All diseases

10 entries on 1 page. Showing entries 1 - 10.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02420 - Desmosterolosis 602398 AR - - DHCR24 - -
01861 CVID2 immunodeficiency, variable, common, type 2 (CVID-2) 240500 AD;AR - - CD19, CR2, ICOS, TNFRSF13B, TNFRSF13C - -
03707 CVID7 immunodeficiency, variable, common, type 7 (CVID-7) 614699 AR - - CR2 - -
04099 DFNB101 deafness, autosomal recessive, type 101 (DFNB-101) 615837 AR - - GRXCR2 - -
04636 HLD10 leukodystrophy, hypomyelinating, type 10 (HLD-10) 616420 AR - - PYCR2 - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00991 PVHH Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 AR 9 - FLVCR2 - -
02994 SLEB9 lupus erythematosus, systemic, type 9 (SLEB-9) 610927 - - - CR2 - -
06677 SPTCL T-cell lymphoma, subcutaneous panniculitis-like 618398 AR - - HAVCR2 - -
01048 VCFS velocardiofacial syndrome 192430 AD 2 2 DGCR14, DGCR2, DGCR6, DGCR8, TBX1 - -
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