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Published July 3, 2023 | Version v2023-07-03
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monarch-initiative/mondo: v2023-07-03

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. Harvard Medical School
  • 11. tislab.org
  • 12. TISLab, CU

Description

Overview:

  • Number of new terms: 82
  • Number of changed labels: 50
  • Number of changed definitions: 24
  • Number obsoleted terms: 24
  • Number of new obsoletion candidates: 20
  • Number of terms who were previously candidate for obsoletion and are now not anymore: 10
New terms
Mondo ID Label Definition
MONDO:0100513 TRAF3 haploinsufficiency Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.
MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17
MONDO:0100520 NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.
MONDO:0100521 NOG-related symphalangism spectrum disorder An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.
MONDO:0100522 hypotrichosis 4
MONDO:0100523 SPAST-related motor disorder Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,
MONDO:0957001 hereditary mixed dermis disorder
MONDO:0957003 hereditary neuro-ophthalmological disease
MONDO:0957008 hereditary cerebral malformation
MONDO:0957009 hereditary posterior fossa malformation
MONDO:0957018 autoinflammatory syndrome of childhood
MONDO:0957024 hereditary 46,XX disorder of sex development
MONDO:0957025 hereditary 46,XY disorder of sex development
MONDO:0957048 isolated macular dystrophy
MONDO:0957097 hereditary hemolytic uremic syndrome
MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect
MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect
MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect
MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect
MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect
MONDO:1011300 acute disease, non-human animal Acute disease that occurs in non-human animals.
MONDO:1011301 auditory system disorder, non-human animal Auditory system disorder that occurs in non-human animals.
MONDO:1011302 branchial arch disease, non-human animal Branchial arch disease that occurs in non-human animals.
MONDO:1011303 mammary gland disorder, non-human animal Mammary gland disorder that occurs in non-human animals.
MONDO:1011304 mammary fibrocystic disease, non-human animal Mammary fibrocystic disease that occurs in non-human animals.
MONDO:1011305 cancer or benign tumor, non-human animal Cancer or benign tumor that occurs in non-human animals.
MONDO:1011306 cardiovascular disorder, non-human animal Cardiovascular disorder that occurs in non-human animals.
MONDO:1011307 chromosomal disorder, non-human animal Chromosomal disorder that occurs in non-human animals.
MONDO:1011308 congenital nervous system disorder, non-human animal Congenital nervous system disorder that occurs in non-human animals.
MONDO:1011309 connective tissue disorder, non-human animal Connective tissue disorder that occurs in non-human animals.
MONDO:1011310 developmental defect during embryogenesis, non-human animal Developmental defect during embryogenesis that occurs in non-human animals.
MONDO:1011311 digestive system disorder, non-human animal Digestive system disorder that occurs in non-human animals.
MONDO:1011312 disease related to transplantation, non-human animal Disease related to transplantation that occurs in non-human animals.
MONDO:1011313 disorder of development or morphogenesis, non-human animal Disorder of development or morphogenesis that occurs in non-human animals.
MONDO:1011314 disorder of glycosylation, non-human animal Disorder of glycosylation that occurs in non-human animals.
MONDO:1011315 disorder of orbital region, non-human animal Disorder of orbital region that occurs in non-human animals.
MONDO:1011316 disorder of visual system, non-human animal Disorder of visual system that occurs in non-human animals.
MONDO:1011317 endocrine system disorder, non-human animal Endocrine system disorder that occurs in non-human animals.
MONDO:1011318 hearing disorder, non-human animal Hearing disorder that occurs in non-human animals.
MONDO:1011319 hematologic disorder, non-human animal Hematologic disorder that occurs in non-human animals.
MONDO:1011321 hereditary disease, non-human animal Hereditary disease that occurs in non-human animals.
MONDO:1011322 iatrogenic disease, non-human animal Iatrogenic disease that occurs in non-human animals.
MONDO:1011323 idiopathic disease, non-human animal Idiopathic disease that occurs in non-human animals.
MONDO:1011325 immunodeficiency-related disorder, non-human animal Immunodeficiency-Related disorder that occurs in non-human animals.
MONDO:1011327 inflammatory disease, non-human animal Inflammatory disease that occurs in non-human animals.
MONDO:1011328 integumentary system disorder, non-human animal Integumentary system disorder that occurs in non-human animals.
MONDO:1011329 keratoconjunctivitis, non-human animal Keratoconjunctivitis that occurs in non-human animals.
MONDO:1011330 lymphoid system disorder, non-human animal Lymphoid system disorder that occurs in non-human animals.
MONDO:1011331 metabolic disease, non-human animal Metabolic disease that occurs in non-human animals.
MONDO:1011332 mitochondrial disease, non-human animal Mitochondrial disease that occurs in non-human animals.
MONDO:1011333 mouth disorder, non-human animal Mouth disorder that occurs in non-human animals.
MONDO:1011334 mouth mucosa disorder, non-human animal Mouth mucosa disorder that occurs in non-human animals.
MONDO:1011335 musculoskeletal system disorder, non-human animal Musculoskeletal system disorder that occurs in non-human animals.
MONDO:1011336 nervous system disorder, non-human animal Nervous system disorder that occurs in non-human animals.
MONDO:1011337 neurocristopathy, non-human animal Neurocristopathy that occurs in non-human animals.
MONDO:1011338 nutritional disorder, non-human animal Nutritional disorder that occurs in non-human animals.
MONDO:1011339 obstetric disorder, non-human animal Obstetric disorder that occurs in non-human animals.
MONDO:1011340 occupational disorder, non-human animal Occupational disorder that occurs in non-human animals.
MONDO:1011341 omphalitis, non-human animal Omphalitis that occurs in non-human animals.
MONDO:1011342 otorhinolaryngologic disease, non-human animal Otorhinolaryngologic disease that occurs in non-human animals.
MONDO:1011343 perceptual disorders, non-human animal Perceptual disorders that occurs in non-human animals.
MONDO:1011344 perinatal disease, non-human animal Perinatal disease that occurs in non-human animals.
MONDO:1011345 poisoning, non-human animal Poisoning that occurs in non-human animals.
MONDO:1011346 post-bacterial disorder, non-human animal Post-Bacterial disorder that occurs in non-human animals.
MONDO:1011347 post-COVID-19 disorder, non-human animal Post-Covid-19 disorder that occurs in non-human animals.
MONDO:1011348 post-infectious disorder, non-human animal Post-Infectious disorder that occurs in non-human animals.
MONDO:1011349 post-viral disorder, non-human animal Post-Viral disorder that occurs in non-human animals.
MONDO:1011350 premature aging syndrome, non-human animal Premature aging syndrome that occurs in non-human animals.
MONDO:1011351 psychiatric disorder, non-human animal Psychiatric disorder that occurs in non-human animals.
MONDO:1011352 radiation-induced disorder, non-human animal Radiation-induced disorder that occurs in non-human animals.
MONDO:1011353 radiculitis, non-human animal Radiculitis that occurs in non-human animals.
MONDO:1011354 reproductive system disorder, non-human animal Reproductive system disorder that occurs in non-human animals.
MONDO:1011356 sensory ganglionopathy, non-human animal Sensory ganglionopathy that occurs in non-human animals.
MONDO:1011357 serositis, non-human animal Serositis that occurs in non-human animals.
MONDO:1011358 skin appendage disorder, non-human animal Skin appendage disorder that occurs in non-human animals.
MONDO:1011359 subcutaneous tissue disorder, non-human animal Subcutaneous tissue disorder that occurs in non-human animals.
MONDO:1011360 syndromic disease, non-human animal Syndromic disease that occurs in non-human animals.
MONDO:1011361 thymus gland disorder, non-human animal Thymus gland disorder that occurs in non-human animals.
MONDO:1011363 ulcer disease, non-human animal Ulcer disease that occurs in non-human animals.
MONDO:1011364 upper digestive tract disorder, non-human animal Upper digestive tract disorder that occurs in non-human animals.
MONDO:1011365 urinary system disorder, non-human animal Urinary system disorder that occurs in non-human animals.
MONDO:1011367 vision disorder, non-human animal Vision disorder that occurs in non-human animals.
Changed terms Changed labels
Mondo ID Label Previous release New release
MONDO:0021034 hereditary alopecia genetic alopecia hereditary alopecia
MONDO:0015508 hereditary parenchymatous liver disease genetic parenchymatous liver disease hereditary parenchymatous liver disease
MONDO:0018562 hereditary otorhinolaryngological malformation genetic otorhinolaryngological malformation hereditary otorhinolaryngological malformation
MONDO:0100118 hereditary skin disorder genetic skin disorder hereditary skin disorder
MONDO:0020127 hereditary peripheral neuropathy genetic peripheral neuropathy hereditary peripheral neuropathy
MONDO:0020242 hereditary macular dystrophy genetic macular dystrophy hereditary macular dystrophy
MONDO:0001504 fetishistic disorder fetishism fetishistic disorder
MONDO:0018187 hereditary syndromic Pierre Robin syndrome genetic syndromic Pierre Robin syndrome hereditary syndromic Pierre Robin syndrome
MONDO:0018751 hereditary otorhinolaryngologic disease genetic otorhinolaryngologic disease hereditary otorhinolaryngologic disease
MONDO:0015509 hereditary biliary tract disease genetic biliary tract disease hereditary biliary tract disease
MONDO:0015547 hereditary dementia genetic dementia hereditary dementia
MONDO:0020087 hereditary lipodystrophy genetic lipodystrophy hereditary lipodystrophy
MONDO:0017131 hereditary cardiac anomaly genetic cardiac anomaly hereditary cardiac anomaly
MONDO:0007037 Achondroplasia achondroplasia Achondroplasia
MONDO:0007041 Apert syndrome apert syndrome Apert syndrome
MONDO:0007044 Acrodysostosis 1 with or without hormone resistance acrodysostosis 1 with or without hormone resistance Acrodysostosis 1 with or without hormone resistance
MONDO:0007055 Acromicric dysplasia acromicric dysplasia Acromicric dysplasia
MONDO:0007057 Acroosteolysis dominant type acroosteolysis dominant type Acroosteolysis dominant type
MONDO:0007058 Acropectorovertebral dysplasia acropectorovertebral dysplasia Acropectorovertebral dysplasia
MONDO:0007073 Hypoglossia-hypodactyly syndrome hypoglossia-hypodactyly syndrome Hypoglossia-hypodactyly syndrome
MONDO:0007078 Pseudohypoparathyroidism type 1A pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A
MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia
MONDO:0007124 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MONDO:0007136 hereditary anorectal anomalies genetic anorectal anomalies hereditary anorectal anomalies
MONDO:0016229 hereditary vascular anomaly genetic vascular anomaly hereditary vascular anomaly
MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome genetic lethal multiple congenital anomalies/dysmorphic syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome
MONDO:0015961 hereditary head and neck malformation genetic head and neck malformation hereditary head and neck malformation
MONDO:0015617 hereditary gastro-esophageal disease genetic gastro-esophageal disease hereditary gastro-esophageal disease
MONDO:0021026 hereditary epidermal appendage anomaly genetic epidermal appendage anomaly hereditary epidermal appendage anomaly
MONDO:0018188 hereditary intestinal polyposis genetic intestinal polyposis hereditary intestinal polyposis
MONDO:0008247 Robin sequence-oligodactyly syndrome robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome
MONDO:0021029 hereditary sebaceous gland anomaly genetic sebaceous gland anomaly hereditary sebaceous gland anomaly
MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy genetic inflammatory or rheumatoid-like osteoarthropathy hereditary inflammatory or rheumatoid-like osteoarthropathy
MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis genetic hemophagocytic lymphohistiocytosis hereditary hemophagocytic lymphohistiocytosis
MONDO:0009123 orthostatic hypotension 1 dopamine beta-hydroxylase deficiency orthostatic hypotension 1
MONDO:0016165 hereditary hypoparathyroidism genetic hypoparathyroidism hereditary hypoparathyroidism
MONDO:0020504 hereditary recurrent myoglobinuria genetic recurrent myoglobinuria hereditary recurrent myoglobinuria
MONDO:0010898 autosomal dominant epilepsy with auditory features Autosomal dominant epilepsy with auditory features autosomal dominant epilepsy with auditory features
MONDO:0020075 hereditary non-syndromic obesity genetic non-syndromic obesity hereditary non-syndromic obesity
MONDO:0016025 myoclonic-astatic epilepsy myoclonic-astastic epilepsy myoclonic-astatic epilepsy
MONDO:0015514 hereditary endocrine growth disease genetic endocrine growth disease hereditary endocrine growth disease
MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency spinocerebellar ataxia, autosomal recessive 23
MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 Sotos syndrome 3 intellectual developmental disorder, autosomal recessive 74
MONDO:0016166 hereditary hyperparathyroidism genetic hyperparathyroidism hereditary hyperparathyroidism
MONDO:0018046 thrombocytopenia-Robin sequence syndrome thrombocytopenia-robin sequence syndrome thrombocytopenia-Robin sequence syndrome
MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome typical hemolytic-uremic syndrome Shiga toxin-associated hemolytic uremic syndrome
MONDO:0021149 hereditary vs non-hereditary etiology genetic vs non-genetic etiology hereditary vs non-hereditary etiology
MONDO:0021905 Apert-like polydactyly syndrome apert-like polydactyly syndrome Apert-like polydactyly syndrome
MONDO:0025510 pythiosis, non-human animal pythiosis pythiosis, non-human animal
MONDO:0043131 Michels Caskey syndrome michels caskey syndrome Michels Caskey syndrome
Changed definitions
Mondo ID Label Previous release New release
MONDO:0020127 hereditary peripheral neuropathy Genetic peripheral neuropathy. An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
MONDO:0001504 fetishistic disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the \fetish\")." A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the \fetish\")."
MONDO:0002457 Treacher-Collins syndrome Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
MONDO:0015547 hereditary dementia Genetic dementia. An instance of dementia that is caused by an inherited genomic modification in an individual.
MONDO:0700104 respiratory system disorder, non-human animal Respiratory system disorder that occurs in non-human animals.
MONDO:0020087 hereditary lipodystrophy Genetic lipodystrophy. An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.
MONDO:0007055 Acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
MONDO:0007057 Acroosteolysis dominant type Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
MONDO:0007058 Acropectorovertebral dysplasia Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
MONDO:0007073 Hypoglossia-hypodactyly syndrome Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
MONDO:0007124 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
MONDO:0007438 dentin dysplasia-sclerotic bones syndrome Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.
MONDO:0009123 orthostatic hypotension 1 Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
MONDO:0016244 atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
MONDO:0016165 hereditary hypoparathyroidism Genetic hypoparathyroidism. An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.
MONDO:0017868 diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
MONDO:0020504 hereditary recurrent myoglobinuria Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.
MONDO:0013885 Malan overgrowth syndrome Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.
MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.
MONDO:0016166 hereditary hyperparathyroidism Genetic hyperparathyroidism. An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.
MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.
MONDO:0700106 immune system disorder, non-human animal Immune system disorder that occurs in non-human animals.
Obsolete terms
Mondo ID Label
MONDO:0000769 obsolete chicken egg allergy
MONDO:0000770 obsolete shellfish allergy
MONDO:0000778 obsolete fruit allergy
MONDO:0000781 obsolete cherry allergy
MONDO:0000782 obsolete Indian plum allergy
MONDO:0000783 obsolete orange allergy
MONDO:0000784 obsolete melon allergy
MONDO:0016123 obsolete muscular tumor
MONDO:0005290 obsolete rhabdomyolysis
MONDO:0005307 obsolete contracture
MONDO:0005849 obsolete milk allergic reaction
MONDO:0005902 obsolete peanut allergic reaction
MONDO:0006516 obsolete sarcopenia
MONDO:0007543 obsolete enolase, sperm specific
MONDO:0016117 obsolete muscular lipidosis
MONDO:0008448 obsolete spheroid body myopathy
MONDO:0008658 obsolete virus Rd114 RNA Complementarity
MONDO:0016118 obsolete muscular glycogenosis
MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate
MONDO:0010682 obsolete myoclonic epilepsy, progressive, X-linked
MONDO:0010975 obsolete arrhythmogenic right ventricular dysplasia 2
MONDO:0018344 obsolete periodic paralysis with transient compartment-like syndrome
MONDO:0020643 obsolete autism susceptibility 1
MONDO:0033211 obsolete diencephalic-mesencephalic junction dysplasia syndrome
New obsoletion candidates
Mondo ID Label
MONDO:0001153 gender dysphoria
MONDO:0007299 Sotos syndrome 1
MONDO:0007779 autosomal dominant Opitz G/BBB syndrome
MONDO:0010204 lysosomal acid lipase deficiency
MONDO:0011380 leukoencephalopathy with vanishing white matter
MONDO:0011499 Okamoto syndrome
MONDO:0017336 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
MONDO:0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy
MONDO:0021927 arthrogryposis epileptic seizures migrational brain disorder
MONDO:0034147 neonatal epileptic encephalopathy due to glutaminase deficiency
MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies
MONDO:0044618 CLCN4-related X-linked intellectual disability syndrome
MONDO:0800342 cap myopathy 2
MONDO:0858986 autosomal dominant spastic paraplegia type 80
MONDO:0858987 autosomal recessive spastic paraplegia type 82
MONDO:0858988 autosomal recessive spastic paraplegia type 83
MONDO:0858989 autosomal recessive spastic paraplegia type 84
MONDO:0858990 autosomal recessive spastic paraplegia type 85
MONDO:0858991 autosomal recessive spastic paraplegia type 86
MONDO:0858992 autosomal recessive spastic paraplegia type 87
Terms that were previously candidate for obsoletion and are now not anymore
Mondo ID Label
MONDO:0015508 hereditary parenchymatous liver disease
MONDO:0020127 hereditary peripheral neuropathy
MONDO:0018751 hereditary otorhinolaryngologic disease
MONDO:0015547 hereditary dementia
MONDO:0016229 hereditary vascular anomaly
MONDO:0015617 hereditary gastro-esophageal disease
MONDO:0018188 hereditary intestinal polyposis
MONDO:0019201 thyrotoxic periodic paralysis
MONDO:0016165 hereditary hypoparathyroidism
MONDO:0016166 hereditary hyperparathyroidism

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