All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03706 ALS17 sclerosis, lateral, amyotrophic, type 17 (ALS17) 614696 AD 4 - CHMP2B - -
02223 CHM choroideremia (CHM) 303100 XLD 570 569 CHM - -
02547 CTCRT31;CTPP3 cataract, type 31, multiple types (CTRCT-31, cataract, posterior polar, type 3 (CTPP-3)) 605387 AD - - CHMP4B - -
02314 FTD3 dementia, frontotemporal, chromosome 3-linked (FTD-3) 600795 AD - - CHMP2B - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
01153 PCH8 hypoplasia, pontocerebellar, type 8 (PCH-8) 614961 AR - - CHMP1A - -
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