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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


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    Term Annotations click to browse term
      disease 16465
        physical disorder 4652
          Compton-North congenital myopathy 1
          Congenital Foot Deformities + 170
          Klippel-Feil syndrome + 44
          Leber congenital amaurosis + 116
          MLS syndrome + 3
          Meckel's diverticulum 0
          Poland syndrome 0
          Silver-Russell syndrome + 8
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
          TORCH syndrome 0
          Zika virus congenital syndrome 0
          agnathia-otocephaly complex 3
          arthrogryposis multiplex congenita + 232
          autosomal dominant congenital deafness with onychodystrophy 1
          autosomal recessive congenital ichthyosis + 49
          bladder exstrophy-epispadias-cloacal exstrophy complex + 30
          blepharophimosis + 17
          caudal regression syndrome 6
          cleft palate-lateral synechia syndrome 0
          congenital adrenal hyperplasia + 18
          congenital adrenal insufficiency 1
          congenital afibrinogenemia + 5
          congenital amegakaryocytic thrombocytopenia + 2
          congenital aphakia 3
          congenital bilateral absence of vas deferens + 2
          congenital bile acid synthesis defect + 7
          congenital central hypoventilation syndrome + 10
          congenital chylothorax 2
          congenital contractural arachnodactyly 1
          congenital diaphragmatic hernia + 65
          congenital diarrhea + 12
          congenital disorder of glycosylation + 520
          congenital epulis 0
          congenital fibrosarcoma 2
          congenital fibrosis of the extraocular muscles + 9
          congenital generalized lipodystrophy + 7
          congenital granular cell tumor 0
          congenital heart block + 13
          congenital heart disease + 1281
          congenital hemolytic anemia + 310
          congenital hereditary endothelial dystrophy of cornea 1
          congenital hypogammaglobulinemia 0
          congenital hypoplastic anemia + 218
          congenital hypothyroidism + 216
          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 + 168
          congenital myasthenic syndrome + 182
          congenital myopathy 4A + 8
          congenital nervous system abnormality + 1438
          congenital nystagmus + 19
          congenital ptosis + 2
          congenital stationary night blindness + 25
          congenital stromal corneal dystrophy 1
          congenital structural myopathy + 131
          congenital sucrase-isomaltase deficiency 1
          congenital syphilis + 0
          congenital toxoplasmosis 0
          cryptophthalmia + 19
          epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
          gastroschisis + 5
          hypospadias + 80
          imperforate anus + 111
          large congenital melanocytic nevus 3
          laryngomalacia + 1
          lethal congenital contracture syndrome + 13
          lethal congenital glycogen storage disease of heart 24
          multiple congenital anomalies-hypotonia-seizures syndrome + 29
          myotonia congenita + 12
          neural tube defect + 121
          non-congenital cyst of kidney 0
          nonsyndromic congenital nail disorder + 6
          omphalocele 7
          orofacial cleft + 149
          palmoplantar keratoderma and congenital alopecia 1 1
          palmoplantar keratoderma and congenital alopecia 2 0
          polydactyly + 353
          primary congenital glaucoma + 12
          radioulnar synostosis + 3
          rapidly involuting congenital hemangioma 0
          severe congenital encephalopathy due to MECP2 mutation 33
          severe congenital neutropenia + 267
          spondyloepiphyseal dysplasia with congenital joint dislocations 1
          visceral heterotaxy + 107
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