All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
07037 CMT1I Charcot-Marie-Tooth disease, demyelinating, type 1I 619742 AD - - POLR3B - -
05523 HLD leukodystrophy, hypomyelinating (HLD) - - 281 281 POLR3A, POLR3B - -
03621 HLD8 leukodystrophy, hypomyelinating, type 8, with/without oligodontia and/or hypogonadotropic hypogonadism (HLD8) 614381 AR - - POLR3B - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
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