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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 21155
        physical disorder 4941
          Compton-North congenital myopathy 1
          Congenital Foot Deformities + 175
          Klippel-Feil syndrome + 52
          Leber congenital amaurosis + 131
          MLS syndrome + 3
          Meckel's diverticulum 0
          Poland syndrome 0
          Silver-Russell syndrome + 9
          T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
          TORCH syndrome 0
          Zika virus congenital syndrome 0
          agnathia-otocephaly complex 3
          arthrogryposis multiplex congenita + 241
          autosomal dominant congenital deafness with onychodystrophy 1
          autosomal recessive congenital ichthyosis + 51
          bladder exstrophy-epispadias-cloacal exstrophy complex + 33
          blepharophimosis + 17
          caudal regression syndrome 6
          cleft palate-lateral synechia syndrome 0
          congenital adrenal hyperplasia + 21
          congenital adrenal insufficiency 1
          congenital afibrinogenemia + 5
          congenital amegakaryocytic thrombocytopenia + 2
          congenital aphakia 3
          congenital bilateral absence of vas deferens + 4
          congenital bile acid synthesis defect + 7
          congenital central hypoventilation syndrome + 10
          congenital chylothorax 2
          congenital contractural arachnodactyly 1
          congenital diaphragmatic hernia + 67
          congenital diarrhea + 12
          congenital disorder of glycosylation + 538
          congenital epulis 0
          congenital fibrosarcoma 2
          congenital fibrosis of the extraocular muscles + 6
          congenital generalized lipodystrophy + 7
          congenital granular cell tumor 0
          congenital heart block + 13
          congenital heart disease + 1341
          congenital hemolytic anemia + 348
          congenital hereditary endothelial dystrophy of cornea 1
          congenital hypogammaglobulinemia 0
          congenital hypoplastic anemia + 237
          congenital hypothyroidism + 232
          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 + 173
          congenital myasthenic syndrome + 189
          congenital myopathy 4A + 8
          congenital nervous system abnormality + 1482
          congenital nystagmus + 19
          congenital ptosis + 2
          congenital stationary night blindness + 28
          congenital stromal corneal dystrophy 1
          congenital structural myopathy + 131
          congenital sucrase-isomaltase deficiency 1
          congenital syphilis + 0
          congenital toxoplasmosis 1
          cryptophthalmia + 22
          epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
          gastroschisis + 5
          hypospadias + 85
          imperforate anus + 111
          large congenital melanocytic nevus 3
          laryngomalacia + 1
          lethal congenital contracture syndrome + 13
          lethal congenital glycogen storage disease of heart 25
          multiple congenital anomalies-hypotonia-seizures syndrome + 33
          myotonia congenita + 12
          neural tube defect + 130
          non-congenital cyst of kidney 0
          nonsyndromic congenital nail disorder + 7
          omphalocele 7
          orofacial cleft + 154
          palmoplantar keratoderma and congenital alopecia 1 1
          palmoplantar keratoderma and congenital alopecia 2 0
          polydactyly + 364
          primary congenital glaucoma + 13
          radioulnar synostosis + 3
          rapidly involuting congenital hemangioma 0
          severe congenital encephalopathy due to MECP2 mutation 34
          severe congenital neutropenia + 299
          spondyloepiphyseal dysplasia with congenital joint dislocations 1
          visceral heterotaxy + 111
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