All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00991 - Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 - - - FLVCR2 - -
01048 - velocardiofacial syndrome 192430 - - - DGCR14, DGCR2, DGCR6, DGCR8, TBX1 - -
02420 - Desmosterolosis 602398 - - - DHCR24 - -
01861 CVID-2 immunodeficiency, variable, common, type 2 (CVID-2) 240500 - - - CD19, CR2, ICOS, TNFRSF13B, TNFRSF13C - -
03707 CVID-7 immunodeficiency, variable, common, type 7 (CVID-7) 614699 - - - CR2 - -
04099 DFNB-101 deafness, autosomal recessive, type 101 (DFNB-101) 615837 - - - GRXCR2 - -
04636 HLD-10 leukodystrophy, hypomyelinating, type 10 (HLD-10) 616420 - - - PYCR2 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
02994 SLEB-9 lupus erythematosus, systemic, type 9 (SLEB-9) 610927 - - - CR2 - -
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