All diseases

3 entries on 1 page. Showing entries 1 - 3.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05519 AOA ataxia-oculomotor apraxia (AOA) - 11 11 APTX, PIK3R5, PNKP, SETX - -
01672 EAOH ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH) 208920 59 59 APTX - -
00139 ID intellectual disability (ID) - 902 791 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 518 more - -