All diseases

10 entries on 1 page. Showing entries 1 - 10.
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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 - -
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
05795 CSS8 Coffin-Siris syndrome, type 8 (CSS8) 618362 AR - - SMARCC2 - neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
06740 FANCU ?Fanconi anemia, complementation group U 617247 AR - - XRCC2 - -
00139 ID intellectual disability (ID) - - 2752 2434 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
05186 POF17 ovarian failure, premature, type 17 619146 AR - - XRCC2 - -
06908 SPGF50 spermatogenic failure, type 50 619145 AR - - XRCC2 - -
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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