All diseases

7 entries on 1 page. Showing entries 1 - 7.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01122 - Choroideremia, deafness, and mental retardation - 0 0 CHM - -
03706 ALS-17 sclerosis, lateral, amyotrophic, type 17 (ALS-17) 614696 4 0 CHMP2B - -
02223 CHM choroideremia (CHM) 303100 516 516 CHM - -
02547 CTCRT-31;CTPP-3 cataract, type 31, multiple types (CTRCT-31, cataract, posterior polar, type 3 (CTPP-3)) 605387 0 0 CHMP4B - -
02314 FTD-3 dementia, frontotemporal, chromosome 3-linked (FTD-3) 600795 0 0 CHMP2B - -
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 - -
01153 PCH-8 hypoplasia, pontocerebellar, type 8 (PCH-8) 614961 0 0 CHMP1A - -