There is a newer version of the record available.

Published September 12, 2023 | Version v2023-09-12
Software Open

monarch-initiative/mondo: v2023-09-12

Creators

  • 1. Critical Path Institute
  • 2. Lawrence Berkeley National Laboratory
  • 3. semanticly Ltd
  • 4. @jhu-bids
  • 5. @actions
  • 6. @related-sciences
  • 7. SIB Swiss Institute of Bioinformatics
  • 8. @RENCI
  • 9. Columbia University
  • 10. Northeastern University
  • 11. tislab.org
  • 12. TISLab, CU

Description

Overview:

  • Number of new terms: 379
  • Number of changed labels: 28
  • Number of changed definitions: 508
  • Number obsoleted terms: 6
  • Number of new obsoletion candidates: 236
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 1
New terms
Mondo ID Label Definition
MONDO:0100524 ASAH1-related sphingolipidosis A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.
MONDO:0100525 TCF7L2-related neurodevelopmental disorder A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.
MONDO:0100526 breast-ovarian cancer, familial, susceptibility to
MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
MONDO:0800448 leukoencephalopathy with vanishing white matter A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \foamy'' aspect."
MONDO:0957202 spermatogenic failure, X-linked, 7
MONDO:0957203 intellectual developmental disorder, X-linked 111
MONDO:0957204 autoinflammation with pulmonary and cutaneous vasculitis
MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8
MONDO:0957210 neurooculorenal syndrome
MONDO:0957211 neurodegeneration and seizures due to copper transport defect
MONDO:0957215 congenital myopathy 20
MONDO:0957216 premature ovarian failure 21
MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12
MONDO:0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
MONDO:0957220 oocyte/zygote/embryo maturation arrest 17
MONDO:0957221 spastic paraplegia 70, autosomal recessive
MONDO:0957224 congenital myopathy 21 with early respiratory failure
MONDO:0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
MONDO:0957229 hatipoglu immunodeficiency syndrome
MONDO:0957230 oocyte/zygote/embryo maturation arrest 18
MONDO:0957231 oocyte/zygote/embryo maturation arrest 19
MONDO:0957240 cone-rod dystrophy 24
MONDO:0957247 congenital myopathy 22A, classic
MONDO:0957248 developmental and epileptic encephalopathy 31B
MONDO:0957249 spermatogenic failure 82
MONDO:0957250 spermatogenic failure 83
MONDO:0957252 ciliary dyskinesia, primary, 50
MONDO:0957253 diarrhea 13
MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
MONDO:0957260 combined low LDL and fibrinogen
MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
MONDO:0957262 osteopetrosis, autosomal recessive 9
MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3
MONDO:0957265 congenital myopathy 22B, severe fetal
MONDO:0957266 RECON progeroid syndrome
MONDO:0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MONDO:0957268 hypersulfaturia
MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28
MONDO:0957271 autoinflammatory disease, systemic, with vasculitis
MONDO:0957273 Charcot-Marie-Tooth disease, dominant intermediate A
MONDO:0957274 spastic paraplegia 89, autosomal recessive
MONDO:0957278 oocyte/zygote/embryo maturation arrest 20
MONDO:0957279 auditory neuropathy, autosomal dominant 2
MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset
MONDO:0957284 nemaline myopathy 5C, autosomal dominant
MONDO:0957288 intellectual developmental disorder, autosomal recessive 79
MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
MONDO:0957301 spermatogenic failure 84
MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2
MONDO:0957307 woolly hair-skin fragility syndrome
MONDO:0957308 spastic paraplegia 90A, autosomal dominant
MONDO:0957309 spastic paraplegia 90B, autosomal recessive
MONDO:0957314 retinitis pigmentosa 97
MONDO:0957337 isolated chorioretinal dystrophy
MONDO:0957341 secondary early-onset glaucoma
MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7
MONDO:0957385 dystonia 37, early-onset, with striatal lesions
MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3
MONDO:0957396 ciliary dyskinesia, primary, 51
MONDO:0957397 intellectual developmental disorder, autosomal dominant 72
MONDO:0957403 periodic fever syndrome of childhood
MONDO:0957404 pyogenic autoinflammatory syndrome of childhood
MONDO:0957405 granulomatous autoinflammatory syndrome of childhood
MONDO:0957408 type 1 interferonopathy of childhood
MONDO:0957421 borna virus encephalitis
MONDO:0957423 immunotherapy induced hypophysitis
MONDO:0957426 autosomal recessive hyper-IgE syndrome
MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19)
MONDO:0957430 childhood-onset schizophrenia
MONDO:0957431 endogenous Cushing syndrome
MONDO:0957432 neonatal compartment syndrome
MONDO:0957433 primary pulmonary vein stenosis
MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency
MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency
MONDO:0957451 non-terminal myelocystocele A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.
MONDO:0957452 segmental arterial mediolysis
MONDO:0957453 true myelomeningocele A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).
MONDO:0957454 hemi-myelomeningocele A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.
MONDO:0957456 classical dermatomyositis
MONDO:0957458 adermatopathic dermatomyositis
MONDO:0957459 congenital esophageal stenosis
MONDO:0957460 spontaneous intestinal perforation
MONDO:0957461 primary tuberculous lymphadenitis
MONDO:0957462 primary pulmonary tuberculosis
MONDO:0957463 primary bone and joint tuberculosis
MONDO:0957464 primary cutaneous tuberculosis
MONDO:0957465 multifocal tuberculosis
MONDO:0957466 primary tuberculosis of the digestive system
MONDO:0957467 primary genito-urinary tuberculosis
MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
MONDO:0957476 isolated persistent urogenital sinus
MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome
MONDO:0957481 idiopathic pregnancy-associated osteoporosis
MONDO:0957487 idiopathic catatonia
MONDO:0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked
MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
MONDO:0957496 intellectual developmental disorder, X-linked 112
MONDO:0957497 disabling pansclerotic morphea of childhood
MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5
MONDO:0957531 neurodevelopmental disorder with microcephaly and movement abnormalities
MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3
MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
MONDO:0957535 immunodeficiency 112
MONDO:0957536 intellectual developmental disorder, autosomal dominant 73
MONDO:0957537 combined oxidative phosphorylation deficiency 58
MONDO:0957538 amyotrophic lateral sclerosis 28
MONDO:0957539 dystonia 22, juvenile-onset
MONDO:0957540 congenital disorder of glycosylation, type IIaa
MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
MONDO:0957542 dystonia 22, adult-onset
MONDO:0957543 auriculocondylar syndrome 4
MONDO:0957544 auriculocondylar syndrome 2B
MONDO:0957545 cardiomyopathy, dilated, 2I
MONDO:0957556 congenital pulmonary vein atresia
MONDO:1010001 epilepsy, non-human animal Epilepsy that occurs in non-human animals.
MONDO:1010002 myoclonus, non-human animal Myoclonus that occurs in non-human animals.
MONDO:1010003 narcolepsy, non-human animal Narcolepsy that occurs in non-human animals.
MONDO:1010004 paroxysmal dyskinesia, non-human animal Paroxysmal dyskinesia that occurs in non-human animals.
MONDO:1010005 autism spectrum disorder, non-human animal Autism spectrum disorder that occurs in non-human animals.
MONDO:1010006 Phelan-McDermid syndrome, non-human animal Phelan-McDermid syndrome that occurs in non-human animals.
MONDO:1010007 subvalvular aortic stenosis, non-human animal Subvalvular aortic stenosis that occurs in non-human animals.
MONDO:1010008 atherosclerosis, non-human animal Atherosclerosis that occurs in non-human animals.
MONDO:1010009 atrial septal defect, non-human animal Atrial septal defect that occurs in non-human animals.
MONDO:1010010 cardiomyopathy, non-human animal Cardiomyopathy that occurs in non-human animals.
MONDO:1010011 dilated cardiomyopathy, non-human animal Dilated cardiomyopathy that occurs in non-human animals.
MONDO:1010012 conotruncal heart malformations, non-human animal Conotruncal heart malformations that occurs in non-human animals.
MONDO:1010013 cor triatriatum dexter, non-human animal Cor triatriatum dexter that occurs in non-human animals.
MONDO:1010014 essential hypertension, non-human animal Essential hypertension that occurs in non-human animals.
MONDO:1010015 hypertrophic cardiomyopathy, non-human animal Hypertrophic cardiomyopathy that occurs in non-human animals.
MONDO:1010016 mitral valve stenosis, non-human animal Mitral valve stenosis that occurs in non-human animals.
MONDO:1010017 patent ductus arteriosus, non-human animal Patent ductus arteriosus that occurs in non-human animals.
MONDO:1010018 persistent truncus arteriosus, non-human animal Persistent truncus arteriosus that occurs in non-human animals.
MONDO:1010019 arrhythmogenic right ventricular cardiomyopathy, non-human animal Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals.
MONDO:1010020 supravalvular aortic stenosis, non-human animal Supravalvular aortic stenosis that occurs in non-human animals.
MONDO:1010021 tetralogy of fallot, non-human animal Tetralogy of fallot that occurs in non-human animals.
MONDO:1010022 ventricular septal defect, non-human animal Ventricular septal defect that occurs in non-human animals.
MONDO:1010023 patent ductus venosus, non-human animal Patent ductus venosus that occurs in non-human animals.
MONDO:1010024 atrial fibrillation, non-human animal Atrial fibrillation that occurs in non-human animals.
MONDO:1010025 Wolff-Parkinson-White syndrome, non-human animal Wolff-Parkinson-White syndrome that occurs in non-human animals.
MONDO:1010026 Budd-Chiari syndrome, non-human animal Budd-Chiari syndrome that occurs in non-human animals.
MONDO:1010027 endocardial fibroelastosis, non-human animal Endocardial fibroelastosis that occurs in non-human animals.
MONDO:1010028 cerebral amyloid angiopathy, non-human animal Cerebral amyloid angiopathy that occurs in non-human animals.
MONDO:1010031 triploidy, non-human animal Triploidy that occurs in non-human animals.
MONDO:1010032 Jacobsen syndrome, non-human animal Jacobsen syndrome that occurs in non-human animals.
MONDO:1010033 holoprosencephaly, non-human animal Holoprosencephaly that occurs in non-human animals.
MONDO:1010034 cleft lip with or without cleft palate, non-human animal Cleft lip with or without cleft palate that occurs in non-human animals.
MONDO:1010035 mandibulofacial dysostosis, non-human animal Mandibulofacial dysostosis that occurs in non-human animals.
MONDO:1010036 frontonasal dysplasia, non-human animal Frontonasal dysplasia that occurs in non-human animals.
MONDO:1010037 cleft palate, non-human animal Cleft palate that occurs in non-human animals.
MONDO:1010038 gingival hypertrophy, non-human animal Gingival hypertrophy that occurs in non-human animals.
MONDO:1010039 megacolon, non-human animal Megacolon that occurs in non-human animals.
MONDO:1010040 pyloric stenosis, non-human animal Pyloric stenosis that occurs in non-human animals.
MONDO:1010041 Meckel diverticulum, non-human animal Meckel diverticulum that occurs in non-human animals.
MONDO:1010042 protein-losing enteropathy, non-human animal Protein-losing enteropathy that occurs in non-human animals.
MONDO:1010043 cystic fibrosis, non-human animal Cystic fibrosis that occurs in non-human animals.
MONDO:1010044 microvillus inclusion disease, non-human animal Microvillus inclusion disease that occurs in non-human animals.
MONDO:1010045 diprosopus, non-human animal Diprosopus that occurs in non-human animals.
MONDO:1010046 patent urachus, non-human animal Patent urachus that occurs in non-human animals.
MONDO:1010047 spina bifida, non-human animal Spina bifida that occurs in non-human animals.
MONDO:1010048 spina bifida occulta, non-human animal Spina bifida occulta that occurs in non-human animals.
MONDO:1010049 acromegaly, non-human animal Acromegaly that occurs in non-human animals.
MONDO:1010050 congenital adrenal hyperplasia, non-human animal Congenital adrenal hyperplasia that occurs in non-human animals.
MONDO:1010051 diabetes insipidus, non-human animal Diabetes insipidus that occurs in non-human animals.
MONDO:1010052 diabetes mellitus, non-human animal Diabetes mellitus that occurs in non-human animals.
MONDO:1010053 familial goiter, non-human animal Familial goiter that occurs in non-human animals.
MONDO:1010054 hyperparathyroidism, non-human animal Hyperparathyroidism that occurs in non-human animals.
MONDO:1010055 hyperthyroidism, non-human animal Hyperthyroidism that occurs in non-human animals.
MONDO:1010056 hypoparathyroidism, non-human animal Hypoparathyroidism that occurs in non-human animals.
MONDO:1010057 congenital hypothyroidism, non-human animal Congenital hypothyroidism that occurs in non-human animals.
MONDO:1010058 exocrine pancreatic insufficiency, non-human animal Exocrine pancreatic insufficiency that occurs in non-human animals.
MONDO:1010059 thyroiditis, non-human animal Thyroiditis that occurs in non-human animals.
MONDO:1010060 pheochromocytoma, non-human animal Pheochromocytoma that occurs in non-human animals.
MONDO:1010061 hyperaldosteronism, non-human animal Hyperaldosteronism that occurs in non-human animals.
MONDO:1010062 congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.
MONDO:1010063 congenital adrenal hypoplasia, non-human animal Congenital adrenal hypoplasia that occurs in non-human animals.
MONDO:1010066 microcephaly, non-human animal Microcephaly that occurs in non-human animals.
MONDO:1010067 omphalocele, non-human animal Omphalocele that occurs in non-human animals.
MONDO:1010068 situs inversus, non-human animal Situs inversus that occurs in non-human animals.
MONDO:1010069 autoimmune thrombocytopenia, non-human animal Autoimmune thrombocytopenia that occurs in non-human animals.
MONDO:1010070 Chediak-Higashi syndrome, non-human animal Chediak-Higashi syndrome that occurs in non-human animals.
MONDO:1010071 factor VII deficiency, non-human animal Factor VII deficiency that occurs in non-human animals.
MONDO:1010072 factor X deficiency, non-human animal Factor X deficiency that occurs in non-human animals.
MONDO:1010073 factor XI deficiency, non-human animal Factor XI deficiency that occurs in non-human animals.
MONDO:1010074 factor XII deficiency, non-human animal Factor XII deficiency that occurs in non-human animals.
MONDO:1010075 hemophilia B, non-human animal Hemophilia B that occurs in non-human animals.
MONDO:1010076 hypereosinophilic syndrome, non-human animal Hypereosinophilic syndrome that occurs in non-human animals.
MONDO:1010077 Pelger-Huet anomaly, non-human animal Pelger-Huet anomaly that occurs in non-human animals.
MONDO:1010078 polycythemia, non-human animal Polycythemia that occurs in non-human animals.
MONDO:1010079 prekallikrein deficiency, non-human animal Prekallikrein deficiency that occurs in non-human animals.
MONDO:1010080 thrombocytopenia, non-human animal Thrombocytopenia that occurs in non-human animals.
MONDO:1010081 autoimmune thrombocytopenic purpura, non-human animal Autoimmune thrombocytopenic purpura that occurs in non-human animals.
MONDO:1010082 Evans syndrome, non-human animal Evans syndrome that occurs in non-human animals.
MONDO:1010083 Scott Syndrome, non-human animal Scott Syndrome that occurs in non-human animals.
MONDO:1010085 factor XIII deficiency, non-human animal Factor XIII deficiency that occurs in non-human animals.
MONDO:1010086 myeloperoxidase deficiency, non-human animal Myeloperoxidase deficiency that occurs in non-human animals.
MONDO:1010090 anotia, non-human animal Anotia that occurs in non-human animals.
MONDO:1010091 microtia, non-human animal Microtia that occurs in non-human animals.
MONDO:1010092 AA amyloidosis, non-human animal AA amyloidosis that occurs in non-human animals.
MONDO:1010093 AL amyloidosis, non-human animal AL amyloidosis that occurs in non-human animals.
MONDO:1010094 analphalipoproteinaemia, non-human animal Analphalipoproteinaemia that occurs in non-human animals.
MONDO:1010095 citrullinemia, non-human animal Citrullinemia that occurs in non-human animals.
MONDO:1010099 pyruvate kinase deficiency of erythrocyte, non-human animal Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals.
MONDO:1010101 galactosemia, non-human animal Galactosemia that occurs in non-human animals.
MONDO:1010102 porphyria cutanea tarda, non-human animal Porphyria cutanea tarda that occurs in non-human animals.
MONDO:1010103 eclampsia, non-human animal Eclampsia that occurs in non-human animals.
MONDO:1010104 trimethylaminuria (fishy taint), non-human animal Trimethylaminuria (fishy taint) that occurs in non-human animals.
MONDO:1010105 pyruvate dehydrogenase deficiency, non-human animal Pyruvate dehydrogenase deficiency that occurs in non-human animals.
MONDO:1010106 multiple acyl-coa dehydrogenase deficiency, non-human animal Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.
MONDO:1010107 acute intermittent porphyria, non-human animal Acute intermittent porphyria that occurs in non-human animals.
MONDO:1010109 dihydropyrimidinase deficiency, non-human animal Dihydropyrimidinase deficiency that occurs in non-human animals.
MONDO:1010110 hyperphosphatemia, non-human animal Hyperphosphatemia that occurs in non-human animals.
MONDO:1010113 glucocorticoid resistance, non-human animal Glucocorticoid resistance that occurs in non-human animals.
MONDO:1010114 phenylketonuria, non-human animal Phenylketonuria that occurs in non-human animals.
MONDO:1010115 c8 deficiency, non-human animal C8 deficiency that occurs in non-human animals.
MONDO:1010118 systemic lupus erythematosus, non-human animal Systemic lupus erythematosus that occurs in non-human animals.
MONDO:1010119 scleroderma, non-human animal Scleroderma that occurs in non-human animals.
MONDO:1010121 periodic fever syndrome, non-human animal Periodic fever syndrome that occurs in non-human animals.
MONDO:1010123 common variable immunodeficiency, non-human animal Common variable immunodeficiency that occurs in non-human animals.
MONDO:1010124 autoimmune lymphoproliferative syndrome, non-human animal Autoimmune lymphoproliferative syndrome that occurs in non-human animals.
MONDO:1010126 atopic dermatitis, non-human animal Atopic dermatitis that occurs in non-human animals.
MONDO:1010127 dermatomyositis, non-human animal Dermatomyositis that occurs in non-human animals.
MONDO:1010129 epidermolysis bullosa, non-human animal Epidermolysis bullosa that occurs in non-human animals.
MONDO:1010130 hypertrichosis, non-human animal Hypertrichosis that occurs in non-human animals.
MONDO:1010133 acrodermatitis enteropathica, non-human animal Acrodermatitis enteropathica that occurs in non-human animals.
MONDO:1010134 pityriasis rosea, non-human animal Pityriasis rosea that occurs in non-human animals.
MONDO:1010135 protoporphyria, non-human animal Protoporphyria that occurs in non-human animals.
MONDO:1010136 vitiligo, non-human animal Vitiligo that occurs in non-human animals.
MONDO:1010137 bullous pemphigoid, non-human animal Bullous pemphigoid that occurs in non-human animals.
MONDO:1010138 pemphigus, non-human animal Pemphigus that occurs in non-human animals.
MONDO:1010139 atrichia with papular lesions, non-human animal Atrichia with papular lesions that occurs in non-human animals.
MONDO:1010140 alopecia areata, non-human animal Alopecia areata that occurs in non-human animals.
MONDO:1010141 ectodermal dysplasia/skin fragility syndrome, non-human animal Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals.
MONDO:1010142 pyoderma, non-human animal Pyoderma that occurs in non-human animals.
MONDO:1010143 incontinentia pigmenti, non-human animal Incontinentia pigmenti that occurs in non-human animals.
MONDO:1010147 stiff skin syndrome, non-human animal Stiff skin syndrome that occurs in non-human animals.
MONDO:1010149 tricho-dento-osseous-like syndrome, non-human animal Tricho-dento-osseous-like syndrome that occurs in non-human animals.
MONDO:1010153 Darier disease, non-human animal Darier disease that occurs in non-human animals.
MONDO:1010155 cutis laxa, non-human animal Cutis laxa that occurs in non-human animals.
MONDO:1010156 brachydactyly, non-human animal Brachydactyly that occurs in non-human animals.
MONDO:1010157 hyperostosis, non-human animal Hyperostosis that occurs in non-human animals.
MONDO:1010158 polydactyly, non-human animal Polydactyly that occurs in non-human animals.
MONDO:1010159 split hand, non-human animal Split hand that occurs in non-human animals.
MONDO:1010160 syndactyly, non-human animal Syndactyly that occurs in non-human animals.
MONDO:1010161 tibial hemimelia, non-human animal Tibial hemimelia that occurs in non-human animals.
MONDO:1010162 radial hemimelia, non-human animal Radial hemimelia that occurs in non-human animals.
MONDO:1010163 tetradysmelia, non-human animal Tetradysmelia that occurs in non-human animals.
MONDO:1010164 Wilson disease, non-human animal Wilson disease that occurs in non-human animals.
MONDO:1010166 galactosialidosis, non-human animal Galactosialidosis that occurs in non-human animals.
MONDO:1010167 gangliosidosis, non-human animal Gangliosidosis that occurs in non-human animals.
MONDO:1010170 Krabbe disease, non-human animal Krabbe disease that occurs in non-human animals.
MONDO:1010171 lysosomal storage disease, non-human animal Lysosomal storage disease that occurs in non-human animals.
MONDO:1010172 alpha-mannosidosis, non-human animal Alpha-mannosidosis that occurs in non-human animals.
MONDO:1010191 deficiency of uridine monophosphate synthase, non-human animal Deficiency of uridine monophosphate synthase that occurs in non-human animals.
MONDO:1010192 central core myopathy, non-human animal Central core myopathy that occurs in non-human animals.
MONDO:1010195 myopathy, non-human animal Myopathy that occurs in non-human animals.
MONDO:1010196 congenital myopathy, non-human animal Congenital myopathy that occurs in non-human animals.
MONDO:1010197 myositis ossificans, non-human animal Myositis ossificans that occurs in non-human animals.
MONDO:1010198 myotonic dystrophy, non-human animal Myotonic dystrophy that occurs in non-human animals.
MONDO:1010199 muscular dystrophy, Duchenne type, non-human animal Muscular dystrophy, Duchenne type that occurs in non-human animals.
MONDO:1010201 congenital pseudomyotonia, non-human animal Congenital pseudomyotonia that occurs in non-human animals.
MONDO:1010202 myotubular myopathy 1, non-human animal Myotubular myopathy 1 that occurs in non-human animals.
MONDO:1010203 polymyositis, non-human animal Polymyositis that occurs in non-human animals.
MONDO:1010208 myofibrillar myopathy, non-human animal Myofibrillar myopathy that occurs in non-human animals.
MONDO:1010209 lymphosarcoma, non-human animal Lymphosarcoma that occurs in non-human animals.
MONDO:1010210 malignant histiocytosis, non-human animal Malignant histiocytosis that occurs in non-human animals.
MONDO:1010211 mycosis fungoides, non-human animal Mycosis fungoides that occurs in non-human animals.
MONDO:1010212 osteosarcoma, non-human animal Osteosarcoma that occurs in non-human animals.
MONDO:1010213 chronic monocytic leukemia, non-human animal Chronic monocytic leukemia that occurs in non-human animals.
MONDO:1010214 non-hodgkin lymphoma, non-human animal Non-hodgkin lymphoma that occurs in non-human animals.
MONDO:1010215 familial adenomatous polyposis, non-human animal Familial adenomatous polyposis that occurs in non-human animals.
MONDO:1010216 embryonal rhabdomyosarcoma, non-human animal Embryonal rhabdomyosarcoma that occurs in non-human animals.
MONDO:1010217 schwannomatosis, non-human animal Schwannomatosis that occurs in non-human animals.
MONDO:1010220 ameloblastoma, non-human animal Ameloblastoma that occurs in non-human animals.
MONDO:1010222 chronic myelomonocytic leukemia, non-human animal Chronic myelomonocytic leukemia that occurs in non-human animals.
MONDO:1010223 prostate cancer, non-human animal Prostate cancer that occurs in non-human animals.
MONDO:1010224 benign prostatic hyperplasia, non-human animal Benign prostatic hyperplasia that occurs in non-human animals.
MONDO:1010225 cystic hygroma, non-human animal Cystic hygroma that occurs in non-human animals.
MONDO:1010226 lymphangiosarcoma, non-human animal Lymphangiosarcoma that occurs in non-human animals.
MONDO:1010227 cauda equina syndrome, non-human animal Cauda equina syndrome that occurs in non-human animals.
MONDO:1010228 Dandy-Walker syndrome, non-human animal Dandy-Walker syndrome that occurs in non-human animals.
MONDO:1010229 dysautonomia, non-human animal Dysautonomia that occurs in non-human animals.
MONDO:1010230 hepatic encephalopathy, non-human animal Hepatic encephalopathy that occurs in non-human animals.
MONDO:1010231 Huntington disease, non-human animal Huntington disease that occurs in non-human animals.
MONDO:1010232 hydranencephaly, non-human animal Hydranencephaly that occurs in non-human animals.
MONDO:1010233 hydrocephalus, non-human animal Hydrocephalus that occurs in non-human animals.
MONDO:1010234 olivopontocerebellar atrophy, non-human animal Olivopontocerebellar atrophy that occurs in non-human animals.
MONDO:1010235 spinal muscular atrophy, non-human animal Spinal muscular atrophy that occurs in non-human animals.
MONDO:1010236 syringomyelia, non-human animal Syringomyelia that occurs in non-human animals.
MONDO:1010237 polymicrogyria, non-human animal Polymicrogyria that occurs in non-human animals.
MONDO:1010238 leukodystrophy, non-human animal Leukodystrophy that occurs in non-human animals.
MONDO:1010239 peripheral neuropathy, non-human animal Peripheral neuropathy that occurs in non-human animals.
MONDO:1010240 Horner syndrome, non-human animal Horner syndrome that occurs in non-human animals.
MONDO:1010241 giant axonal neuropathy, non-human animal Giant axonal neuropathy that occurs in non-human animals.
MONDO:1010242 Alexander disease, non-human animal Alexander disease that occurs in non-human animals.
MONDO:1010243 cerebellar degeneration, non-human animal Cerebellar degeneration that occurs in non-human animals.
MONDO:1010244 L-2-hydroxyglutaricacidemia, non-human animal L-2-hydroxyglutaricacidemia that occurs in non-human animals.
MONDO:1010245 hyperekplexia, non-human animal Hyperekplexia that occurs in non-human animals.
MONDO:1010247 lissencephaly and cerebellar hypoplasia, non-human animal Lissencephaly and cerebellar hypoplasia that occurs in non-human animals.
MONDO:1010249 ataxia telangiectasia, non-human animal Ataxia telangiectasia that occurs in non-human animals.
MONDO:1010252 succinic semialdehyde dehydrogenase deficiency, non-human animal Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals.
MONDO:1010258 glomerulonephritis, non-human animal Glomerulonephritis that occurs in non-human animals.
MONDO:1010259 nephritis, non-human animal Nephritis that occurs in non-human animals.
MONDO:1010260 nephrolithiasis, non-human animal Nephrolithiasis that occurs in non-human animals.
MONDO:1010261 nephrotic syndrome, non-human animal Nephrotic syndrome that occurs in non-human animals.
MONDO:1010262 polycystic kidney disease, non-human animal Polycystic kidney disease that occurs in non-human animals.
MONDO:1010264 renal hypoplasia, non-human animal Renal hypoplasia that occurs in non-human animals.
MONDO:1010265 renal hypoplasia, unilateral, non-human animal Renal hypoplasia, unilateral that occurs in non-human animals.
MONDO:1010266 renal hypoplasia, bilateral, non-human animal Renal hypoplasia, bilateral that occurs in non-human animals.
MONDO:1010267 urolithiasis, non-human animal Urolithiasis that occurs in non-human animals.
MONDO:1010268 renal dysplasia, non-human animal Renal dysplasia that occurs in non-human animals.
MONDO:1010269 hypospadias, non-human animal Hypospadias that occurs in non-human animals.
MONDO:1010270 alkaptonuria, non-human animal Alkaptonuria that occurs in non-human animals.
MONDO:1010272 renal agenesis, non-human animal Renal agenesis that occurs in non-human animals.
MONDO:1010275 cryptorchidism, non-human animal Cryptorchidism that occurs in non-human animals.
MONDO:1010276 hypogonadism, non-human animal Hypogonadism that occurs in non-human animals.
MONDO:1010277 orchitis, non-human animal Orchitis that occurs in non-human animals.
MONDO:1010278 persistent Mullerian duct syndrome, non-human animal Persistent Mullerian duct syndrome that occurs in non-human animals.
MONDO:1010279 hymen, imperforate, non-human animal Hymen, imperforate that occurs in non-human animals.
MONDO:1010280 priapism, non-human animal Priapism that occurs in non-human animals.
MONDO:1010281 testicular regression syndrome, non-human animal Testicular regression syndrome that occurs in non-human animals.
MONDO:1010282 azoospermia, non-human animal Azoospermia that occurs in non-human animals.
MONDO:1010284 allergic rhinitis, non-human animal Allergic rhinitis that occurs in non-human animals.
MONDO:1010285 atrophic rhinitis, non-human animal Atrophic rhinitis that occurs in non-human animals.
MONDO:1010286 pneumothorax, non-human animal Pneumothorax that occurs in non-human animals.
MONDO:1010287 pulmonary hypertension, non-human animal Pulmonary hypertension that occurs in non-human animals.
MONDO:1010289 choanal atresia, non-human animal Choanal atresia that occurs in non-human animals.
MONDO:1010290 pulmonary agenesis, non-human animal Pulmonary agenesis that occurs in non-human animals.
MONDO:1010291 achondroplasia, non-human animal Achondroplasia that occurs in non-human animals.
MONDO:1010292 ankylosing spondylitis, non-human animal Ankylosing spondylitis that occurs in non-human animals.
MONDO:1010293 anodontia, non-human animal Anodontia that occurs in non-human animals.
MONDO:1010294 rheumatoid arthritis, non-human animal Rheumatoid arthritis that occurs in non-human animals.
MONDO:1010295 osteoporosis, non-human animal Osteoporosis that occurs in non-human animals.
MONDO:1010296 Marfan syndrome, non-human animal Marfan syndrome that occurs in non-human animals.
MONDO:1010297 osteoarthritis, non-human animal Osteoarthritis that occurs in non-human animals.
MONDO:1010298 osteochondritis dissecans, non-human animal Osteochondritis dissecans that occurs in non-human animals.
MONDO:1010299 osteochondrosis, non-human animal Osteochondrosis that occurs in non-human animals.
MONDO:1010300 osteopetrosis, non-human animal Osteopetrosis that occurs in non-human animals.
MONDO:1010302 scoliosis, non-human animal Scoliosis that occurs in non-human animals.
MONDO:1010303 spinal stenosis, non-human animal Spinal stenosis that occurs in non-human animals.
MONDO:1010304 synovial chondromatosis, non-human animal Synovial chondromatosis that occurs in non-human animals.
MONDO:1010305 craniosynostosis, non-human animal Craniosynostosis that occurs in non-human animals.
MONDO:1010306 osteochondrodysplasia, non-human animal Osteochondrodysplasia that occurs in non-human animals.
MONDO:1010310 schmid metaphyseal chondrodysplasia dwarfism, non-human animal Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals.
MONDO:1010312 osteopetrosis with gingival hamartomas, non-human animal Osteopetrosis with gingival hamartomas that occurs in non-human animals.
MONDO:1010313 spondylocostal dysostosis, autosomal recessive, non-human animal Spondylocostal dysostosis, autosomal recessive that occurs in non-human animals.
MONDO:1010314 Van den Ende-Gupta syndrome, non-human animal Van den Ende-Gupta syndrome that occurs in non-human animals.
MONDO:1010315 periodontitis, non-human animal Periodontitis that occurs in non-human animals.
MONDO:1010316 hypophosphatasia, non-human animal Hypophosphatasia that occurs in non-human animals.
MONDO:1010318 GAPO syndrome, non-human animal GAPO syndrome that occurs in non-human animals.
MONDO:1010319 coloboma, non-human animal Coloboma that occurs in non-human animals.
MONDO:1010320 corneal dystrophy, non-human animal Corneal dystrophy that occurs in non-human animals.
MONDO:1010321 retinal detachment, non-human animal Retinal detachment that occurs in non-human animals.
MONDO:1010322 ectropion, non-human animal Ectropion that occurs in non-human animals.
MONDO:1010323 entropion, non-human animal Entropion that occurs in non-human animals.
MONDO:1010324 microphthalmia, non-human animal Microphthalmia that occurs in non-human animals.
MONDO:1010325 congenital nystagmus, non-human animal Congenital nystagmus that occurs in non-human animals.
MONDO:1010326 retinal degeneration, non-human animal Retinal degeneration that occurs in non-human animals.
MONDO:1010327 strabismus, non-human animal Strabismus that occurs in non-human animals.
MONDO:1010328 retinoschisis, non-human animal Retinoschisis that occurs in non-human animals.
MONDO:1010329 Leber congenital amaurosis, non-human animal Leber congenital amaurosis that occurs in non-human animals.
MONDO:1010330 keratitis, non-human animal Keratitis that occurs in non-human animals.
MONDO:1010334 retinitis pigmentosa, non-human animal Retinitis pigmentosa that occurs in non-human animals.
MONDO:1010337 myopia, non-human animal Myopia that occurs in non-human animals.
MONDO:1010343 diabetic cataract, non-human animal Diabetic cataract that occurs in non-human animals.
MONDO:1010344 Peters anomaly, non-human animal Peters anomaly that occurs in non-human animals.
MONDO:1010350 macular corneal dystrophy, non-human animal Macular corneal dystrophy that occurs in non-human animals.
MONDO:1010351 age-related macular degeneration, non-human animal Age-related macular degeneration that occurs in non-human animals.
MONDO:1010352 microphthalmia, isolated, with coloboma, non-human animal Microphthalmia, isolated, with coloboma that occurs in non-human animals.
MONDO:1010358 Leber hereditary optic neuropathy, non-human animal Leber hereditary optic neuropathy that occurs in non-human animals.
MONDO:1010359 night blindness, non-human animal Night blindness that occurs in non-human animals.
MONDO:1010360 dacryocystitis, non-human animal Dacryocystitis that occurs in non-human animals.
MONDO:1010361 hyperphagia leading to hepatic steatosis, non-human animal Hyperphagia leading to hepatic steatosis that occurs in non-human animals.
Changed terms Changed labels
Mondo ID Label Previous release New release
MONDO:0003579 retinal nerve fiber layer disorder retinal nerve fibre layer disorder retinal nerve fiber layer disorder
MONDO:0001006 glaucomatous atrophy of optic disk glaucomatous atrophy of optic disc glaucomatous atrophy of optic disk
MONDO:0002503 adult astrocytic tumor adult astrocytic tumour adult astrocytic tumor
MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MONDO:0008686 isolated familial wooly hair disorder isolated familial woolly hair disorder isolated familial wooly hair disorder
MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
MONDO:0011385 intervertebral disk degenerative disorder intervertebral disc degenerative disorder intervertebral disk degenerative disorder
MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic cardiomyopathy with woolly hair and keratoderma arrhythmogenic cardiomyopathy with wooly hair and keratoderma
MONDO:0012687 familial cavitary optic disk anomaly familial cavitary optic disc anomaly familial cavitary optic disk anomaly
MONDO:0014017 intellectual developmental disorder with autism and macrocephaly autism, susceptibility to, 18 intellectual developmental disorder with autism and macrocephaly
MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome woolly hair-palmoplantar keratoderma syndrome wooly hair-palmoplantar keratoderma syndrome
MONDO:0014765 wooly hair, autosomal recessive 3 woolly hair, autosomal recessive 3 wooly hair, autosomal recessive 3
MONDO:0018738 benign metanephric tumor benign metanephric tumour benign metanephric tumor
MONDO:0019311 wooly hair nevus woolly hair nevus wooly hair nevus
MONDO:0020507 leukoencephalopathy with vanishing white matter 1 Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 1
MONDO:0020717 autosomal dominant wooly hair autosomal dominant woolly hair autosomal dominant wooly hair
MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome polymicrogyria with or without vascular-type ehlers-danlos syndrome polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
MONDO:0044339 lumbar disk degenerative disorder lumbar disc degenerative disorder lumbar disk degenerative disorder
MONDO:0044342 thoracic disk degenerative disorder thoracic disc degenerative disorder thoracic disk degenerative disorder
MONDO:0044343 cervical disk degenerative disorder cervical disc degenerative disorder cervical disk degenerative disorder
MONDO:0100201 lumbar disk disease lumbar disc disease lumbar disk disease
MONDO:0100202 lumbar disk herniation, susceptibility to lumbar disc herniation, susceptibility to lumbar disk herniation, susceptibility to
MONDO:0100206 lumbar disk degeneration, susceptibility to lumbar disc degeneration, susceptibility to lumbar disk degeneration, susceptibility to
MONDO:0800312 wooly hair, autosomal recessive 1, with or without hypotrichosis woolly hair, autosomal recessive 1, with or without hypotrichosis wooly hair, autosomal recessive 1, with or without hypotrichosis
MONDO:0850010 congenital optic disk excavation congenital optic disc excavation congenital optic disk excavation
MONDO:0850281 mammary analog secretory carcinoma mammary analogue secretory carcinoma mammary analog secretory carcinoma
MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young polymorphous low grade neuroepithelial tumour of the young polymorphous low grade neuroepithelial tumor of the young
Changed definitions
Mondo ID Label Previous release New release
MONDO:0009943 Pyle disease A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
MONDO:0000179 Neu-Laxova syndrome Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
MONDO:0000212 hypercalcemia, infantile A hypercalcemia disease that occurs between 28 days to one year of life.. A hypercalcemia disease that occurs between 28 days to one year of life.
MONDO:0000253 piedra Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.
MONDO:0019496 neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion).
MONDO:0000437 cerebellar ataxia A neurological syndrome characterised by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.
MONDO:0006649 anterior ischemic optic neuropathy Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.

note: this report was truncated. See all changed definitions report here.

Obsolete terms
Mondo ID Label
MONDO:0001153 obsolete gender dysphoria
MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome
MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter
MONDO:0034147 obsolete neonatal epileptic encephalopathy due to glutaminase deficiency
MONDO:0044618 obsolete CLCN4-related X-linked intellectual disability syndrome
MONDO:0044747 obsolete human anaplasmosis
New obsoletion candidates
Mondo ID Label
MONDO:0021034 hereditary alopecia
MONDO:0015508 hereditary parenchymatous liver disease
MONDO:0018562 hereditary otorhinolaryngological malformation
MONDO:0019743 nephropathy secondary to a storage or other metabolic disease
MONDO:0018454 dysostosis of genetic origin
MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome
MONDO:0017651 primary myoclonus
MONDO:0018329 persistent combined dystonia
MONDO:0018916 isolated anorectal malformation
MONDO:0016054 cerebral malformation
MONDO:0015368 neuro-ophthalmological disease
MONDO:0015217 non-syndromic developmental defect of the eye
MONDO:0001500 gender identity disorder
MONDO:0001693 ego-dystonic sexual orientation
MONDO:0016756 inherited nervous system cancer-predisposing syndrome
MONDO:0017891 inherited renal cancer-predisposing syndrome
MONDO:0020537 occupational allergic alveolitis
MONDO:0017027 primary interstitial lung disease specific to adulthood
MONDO:0018191 tumor of testis and paratestis
MONDO:0016592 non-hereditary degenerative ataxia
MONDO:0019724 secondary glomerular disease
MONDO:0015933 non-syndromic urogenital tract malformation of male
MONDO:0016708 embryonal tumor of neuroepithelial tissue
MONDO:0020144 cerebrovascular dementia
MONDO:0015141 disorder of medulla oblongata
MONDO:0018187 hereditary syndromic Pierre Robin syndrome
MONDO:0020158 eyelids malposition disorder
MONDO:0017676 marginal papular palmoplantar keratoderma
MONDO:0019292 dermis elastic tissue disorder
MONDO:0020197 EEC syndrome and related syndrome
MONDO:0019713 non-syndromic limb reduction defect
MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations
MONDO:0017132 hereditary ATTR amyloidosis
MONDO:0015145 neurovascular malformation
MONDO:0800090 ectrodactyly with and without other manifestations
MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations
MONDO:0018393 male infertility with azoospermia or oligozoospermia due to single gene mutation
MONDO:0015488 predominantly large-vessel vasculitis
MONDO:0016230 simple vascular malformation
MONDO:0800084 primary bone dysplasia with increased bone density
MONDO:0018240 TRPV4-related bone disorder
MONDO:0017673 isolated focal palmoplantar keratoderma
MONDO:0017428 congenital deformities of fingers
MONDO:0015470 familial isolated dilated cardiomyopathy
MONDO:0019150 familial isolated restrictive cardiomyopathy
MONDO:0020375 coralliform cataract
MONDO:0015765 congenital myopathy with cores
MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement
MONDO:0800075 dysostosis with predominant vertebral with and without costal involvement
MONDO:0016520 isolated Klippel-Feil syndrome
MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunity
MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components
MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia
MONDO:0018888 congenital cornea plana
MONDO:0024471 non-inflammatory vasculopathy
MONDO:0018112 isolated scaphocephaly
MONDO:0018113 isolated plagiocephaly
MONDO:0018114 isolated brachycephaly
MONDO:0017234 inherited prion disease
MONDO:0016524 congenital vascular bone syndrome
MONDO:0017922 deafness-onychodystrophy syndrome
MONDO:0020132 cranial nerve and nuclear aplasia
MONDO:0019699 slender bone dysplasia
MONDO:0015221 non-syndromic respiratory or mediastinal malformation
MONDO:0018538 inherited digestive cancer-predisposing syndrome
MONDO:0020256 congenital trochlear nerve palsy
MONDO:0957025 hereditary 46,XY disorder of sex development
MONDO:0015961 hereditary head and neck malformation
MONDO:0800085 dysostosis with predominant craniofacial involvement
MONDO:0015617 hereditary gastro-esophageal disease
MONDO:0015111 gastroesophageal disease
MONDO:0016170 chronic polyradiculoneuropathy
MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia
MONDO:0019688 sulfation-related bone disorder
MONDO:0019720 non-syndromic renal or urinary tract malformation
MONDO:0016352 idiopathic inherited hypercalciuria
MONDO:0015902 major hypertriglyceridemia
MONDO:0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
MONDO:0019712 patellar dysostosis
MONDO:0015337 isolated craniosynostosis
MONDO:0019176 trichorhinophalangeal syndrome type I or III
MONDO:0018385 osteochondrosis of genetic origin
MONDO:0020178 palpebral lentiginosis
MONDO:0018188 hereditary intestinal polyposis
MONDO:0800087 type 11 collagen-related bone disorder
MONDO:0019044 tumor of hematopoietic and lymphoid tissues
MONDO:0035162 PIK3CA-related overgrowth syndrome
MONDO:0019693 multiple metaphyseal dysplasia
MONDO:0016797 multiple mitochondrial DNA deletion syndrome
MONDO:0015499 paralytic facial malformation
MONDO:0019281 isolated genetic hair shaft abnormality
MONDO:0015227 non-syndromic limb malformation
MONDO:0020203 pigmented conjunctival lesion
MONDO:0016518 isolated punctate palmoplantar keratoderma
MONDO:0017828 primary renal tubular acidosis
MONDO:0020238 inherited vitreous-retinal disease
MONDO:0957001 hereditary mixed dermis disorder
MONDO:0017059 neural tube closure defect
MONDO:0015207 non-syndromic esophageal malformation
MONDO:0019723 disease of glomerular basement membrane
MONDO:0017656 motor stereotypies
MONDO:0020154 microblepharon-ablephara syndrome
MONDO:0017421 non-syndromic terminal limb defects
MONDO:0957024 hereditary 46,XX disorder of sex development
MONDO:0017104 central nervous system cystic malformation
MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy
MONDO:0017950 microcephalic primordial dwarfism
MONDO:0019718 lethal chondrodysplasia
MONDO:0015489 predominantly medium-vessel vasculitis
MONDO:0017114 global cerebellar malformation
MONDO:0020118 dense granule disease
MONDO:0015178 congenital intestinal transport defect
MONDO:0015823 primary immunodeficiency due to a defect in adaptive immunity
MONDO:0016805 isolated oxidative phosphorylation complex disorder
MONDO:0020130 malformation of the cerebellar vermis
MONDO:0019126 intractable diarrhea of infancy
MONDO:0015209 non-syndromic gastroduodenal malformation
MONDO:0020194 congenital alacrima
MONDO:0019689 perlecan-related bone disorder
MONDO:0018241 primary short bowel syndrome
MONDO:0016361 isolated hereditary giant platelet disorder
MONDO:0019213 cerebral organic aciduria
MONDO:0015490 predominantly small-vessel vasculitis
MONDO:0800086 primary bone dysplasia with multiple joint dislocations
MONDO:0015132 immunodeficiency predominantly affecting antibody production
MONDO:0020345 presynaptic congenital myasthenic syndrome
MONDO:0016121 congenital myotonia
MONDO:0022409 nephropathy-associated ciliopathy
MONDO:0018720 common cystic lymphatic malformation
MONDO:0017954 pyogenic autoinflammatory syndrome
MONDO:0009997 Roberts syndrome
MONDO:0020160 secondary entropion
MONDO:0020392 discrete fixed membranous subaortic stenosis
MONDO:0016428 multiple sclerosis variant
MONDO:0016409 primary congenital hypothyroidism
MONDO:0016899 Duchenne and Becker muscular dystrophy
MONDO:0018451 X-linked distal hereditary motor neuropathy
MONDO:0017581 familial infantile gigantism
MONDO:0016803 unspecified inborn mitochondrial disorder
MONDO:0015975 hyper-IgM syndrome with susceptibility to opportunistic infections
MONDO:0020174 precancerous lesion of palpebral epidermis
MONDO:0020219 corneogoniodysgenesis
MONDO:0017057 hereditary thrombocytopenia with normal platelets
MONDO:0016794 maternally-inherited mitochondrial myopathy
MONDO:0018831 HTRA1-related cerebral small vessel disease
MONDO:0017090 midline cerebral malformation
MONDO:0018796 isolated constitutional thrombocytopenia
MONDO:0017262 inherited non-syndromic ichthyosis
MONDO:0017667 isolated diffuse palmoplantar keratoderma
MONDO:0015505 tracheal anomaly
MONDO:0015976 hyper-IgM syndrome without susceptibility to opportunistic infections
MONDO:0018701 congenital nemaline myopathy
MONDO:0019541 non-infectious posterior uveitis
MONDO:0018246 homozygous 2p21 microdeletion syndrome
MONDO:0017173 non-syndromic male infertility due to sperm motility disorder
MONDO:0018758 familial patent arterial duct
MONDO:0016816 Leigh syndrome with nephrotic syndrome
MONDO:0018262 fetal anticonvulsant syndrome
MONDO:0017397 constitutional dyserythropoietic anemia
MONDO:0016355 semilobar holoprosencephaly
MONDO:0017218 septopreoptic holoprosencephaly
MONDO:0019758 midline interhemispheric variant of holoprosencephaly
MONDO:0033947 hereditary angioedema with normal C1Inh
MONDO:0016116 generalized bulbospinal muscular atrophy
MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis
MONDO:0015497 hypoglossia/aglossia
MONDO:0018779 hypercontractile muscle stiffness syndrome
MONDO:0019844 pituitary hormone deficiency secondary to storage disease
MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency
MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome
MONDO:0020133 posterior fossa malformation
MONDO:0017629 sodium channelopathy-related small fiber neuropathy
MONDO:0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
MONDO:0016589 progressive cerebello-cerebral atrophy
MONDO:0020506 ovarioleukodystrophy
MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome
MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
MONDO:0016815 Leigh syndrome with leukodystrophy
MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome
MONDO:0018575 microcephalic primordial dwarfism-insulin resistance syndrome
MONDO:0018340 hereditary isolated aplastic anemia
MONDO:0019619 duplication of the esophagus
MONDO:0019800 chronic hepatic porphyria
MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen
MONDO:0015219 non-syndromic central nervous system malformation
MONDO:0015330 overgrowth/obesity syndrome
MONDO:0015482 otomandibular dysplasia
MONDO:0015485 primary hereditary glaucoma
MONDO:0015591 limbic encephalitis associated with antibodies to cell membrane antigens
MONDO:0015668 hereditary dentin defect
MONDO:0015619 non-syndromic urogenital tract malformation
MONDO:0015828 uterovaginal malformation
MONDO:0015829 non-syndromic uterovaginal malformation
MONDO:0015932 non-syndromic urogenital tract malformation of female
MONDO:0015837 Unicervical bicornuate uterus
MONDO:0015915 cerebellar malformation
MONDO:0016678 maternal disease-related embryofetopathy
MONDO:0018745 superficial pemphigus
MONDO:0016169 chronic acquired demyelinating polyneuropathy
MONDO:0016173 non-paraneoplastic sensory ganglionopathy
MONDO:0016174 paraneoplastic sensory ganglionopathy
MONDO:0016348 non-genetic cardiac rhythm disease
MONDO:0016493 variant of Guillain-Barre syndrome
MONDO:0017423 split hand or/and split foot malformation
MONDO:0017955 granulomatous autoinflammatory syndrome
MONDO:0018640 secondary vasculitis
MONDO:0016744 primary melanocytic tumor of central nervous system
MONDO:0018791 Moyomoya angiopathy
MONDO:0017036 Langerhans cell histiocytosis in childhood and adulthood
MONDO:0020131 malformation of the cerebellar hemispheres
MONDO:0017263 inherited ichthyosis syndromic form
MONDO:0020275 oculocutaneous or ocular albinism
MONDO:0017420 intercalary limb defects
MONDO:0017430 non-syndromic congenital joint dislocations
MONDO:0017431 non-syndromic limb overgrowth
MONDO:0017681 erythrokeratoderma variabilis progressiva
MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan
MONDO:0018665 X-linked acrogigantism due to a point mutation
MONDO:0019599 primary lipodystrophy
MONDO:0020084 lymphoproliferative disease associated with primary immune disease
MONDO:0957009 hereditary posterior fossa malformation
MONDO:0020524 primary parathyroid hyperplasia
MONDO:0028618 gastroenteric neuroendocrine neoplasm
MONDO:0036192 EN1-related dorsoventral syndrome
MONDO:0034669 non-syndromic preaxial polydactyly
MONDO:0034670 non-syndromic postaxial polydactyly
MONDO:0034671 non-syndromic complex polydactyly
MONDO:0034872 large granular lymphocyte leukemia
MONDO:0035002 isolated inherited retinal disorder
MONDO:0035014 primary orthostatic disorder
MONDO:0035561 sporadic human prion disease
MONDO:0035645 inherited gynecological cancer-predisposing syndrome
MONDO:0035684 epidermolysis bullosa simplex without extracutaneous involvement
MONDO:0035685 epidermolysis bullosa simplex with extracutaneous involvement
MONDO:0100282 SC phocomelia syndrome
Terms that were previously candidate for obsoletion and are now not anymore
Mondo ID Label
MONDO:0018795 syndromic constitutional thrombocytopenia

Files

monarch-initiative/mondo-v2023-09-12.zip

Files (88.6 MB)

Name Size Download all
md5:3da65d118172a2a3f4c8930501bcc619
88.6 MB Preview Download

Additional details

Related works

Is supplement to
https://github.com/monarch-initiative/mondo/tree/v2023-09-12 (URL)