All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00749 COFS2 cerebrooculofacioskeletal syndrome, type 2 (COFS-2 610756 AR - - ERCC2 - -
00139 ID intellectual disability (ID) - - 2794 2475 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
00748 TTD trichothiodystrophy (TTD) - - 19 19 ERCC2, ERCC3, GTF2H5, MPLKIP - -
04323 TTD1 trichothiodystrophy, type 1, photosentitive (TTD-1) 601675 AR - - ERCC2 - -
00747 XPD xeroderma pigmentosum, complementation group D (XPD) 278730 AR 3 3 ERCC2 - -
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