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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:physical disorder
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Accession:DOID:0080015 term browser browse the term
Definition:A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (DO)
Synonyms:exact_synonym: congenital disorder
For additional species annotation, visit the Alliance of Genome Resources.


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  disease 16085
    physical disorder 2526
      Congenital Foot Deformities + 118
      Klippel-Feil syndrome + 6
      Leber congenital amaurosis + 73
      MLS syndrome + 3
      Meckel's diverticulum 0
      Poland syndrome 0
      Silver-Russell syndrome + 7
      T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
      TORCH syndrome 0
      Zika virus congenital syndrome 0
      agnathia-otocephaly complex 3
      autosomal dominant congenital deafness with onychodystrophy 1
      autosomal recessive congenital ichthyosis + 29
      bladder exstrophy-epispadias-cloacal exstrophy complex + 10
      caudal regression syndrome 5
      cleft palate-lateral synechia syndrome 1
      congenital adrenal hyperplasia + 21
      congenital adrenal insufficiency 1
      congenital afibrinogenemia + 5
      congenital amegakaryocytic thrombocytopenia 1
      congenital aphakia 1
      congenital bilateral absence of vas deferens + 2
      congenital bile acid synthesis defect + 6
      congenital central hypoventilation syndrome 8
      congenital chylothorax 2
      congenital contractural arachnodactyly 1
      congenital diaphragmatic hernia + 58
      congenital diarrhea + 10
      congenital disorder of glycosylation + 124
      congenital epulis 0
      congenital fibrosarcoma 0
      congenital fibrosis of the extraocular muscles + 4
      congenital generalized lipodystrophy + 5
      congenital granular cell tumor 0
      congenital heart block + 4
      congenital heart disease + 1074
      congenital hemolytic anemia + 136
      congenital hereditary endothelial dystrophy of cornea 2
      congenital hypogammaglobulinemia 0
      congenital hypoplastic anemia + 109
      congenital hypothyroidism + 46
      congenital hypotrichosis with juvenile macular dystrophy 1
      congenital intrinsic factor deficiency 1
      congenital lactase deficiency 1
      congenital leptin deficiency 1
      congenital megabladder 1
      congenital mesoblastic nephroma + 0
      congenital mirror movement disorder + 4
      congenital muscular dystrophy + 72
      congenital myasthenic syndrome + 88
      congenital myopathy + 31
      congenital nervous system abnormality + 552
      congenital nystagmus + 14
      congenital ptosis + 7
      congenital secretory chloride diarrhea 1 1
      congenital stationary night blindness + 29
      congenital stromal corneal dystrophy 1
      congenital structural myopathy + 151
      congenital sucrase-isomaltase deficiency 1
      congenital syphilis + 0
      congenital toxoplasmosis 0
      cryptophthalmia + 19
      developmental cardiac valvular defect 2
      epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
      gastroschisis + 6
      hypospadias + 23
      imperforate anus + 52
      large congenital melanocytic nevus 3
      laryngomalacia + 19
      lethal congenital contracture syndrome + 12
      lethal congenital glycogen storage disease of heart 1
      multiple congenital anomalies-hypotonia-seizures syndrome + 6
      neural tube defect + 120
      non-congenital cyst of kidney 0
      nonsyndromic congenital nail disorder + 8
      omphalocele 7
      orofacial cleft + 132
      palmoplantar keratoderma and congenital alopecia 1 1
      palmoplantar keratoderma and congenital alopecia 2 0
      polydactyly + 127
      primary congenital glaucoma + 9
      radioulnar synostosis + 3
      severe congenital encephalopathy due to MECP2 mutation 34
      severe congenital neutropenia + 11
      spondyloepiphyseal dysplasia with congenital joint dislocations 2
      visceral heterotaxy + 94
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