All diseases

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05599 CAMRQ ataxia, cerebellar, mental retardation, quadrupedal locomotion (CAMRQ) - - 14 14 ATP8A2, CA8, VLDLR, WDR81 - -
00721 CAMRQ2 ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 2 (CAMRQ-2) 610185 AR 2 2 WDR81 - -
06353 HYC3 Hydrocephalus, congenital, 3, with brain anomalies 617967 AR - - WDR81 - -
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 - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.