All diseases

3 entries on 1 page. Showing entries 1 - 3.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01040 BOPS Bohring-Opitz syndrome (BOPS) 605039 9 0 ASXL1 - -
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 - -
00132 MDS myelodysplastic syndrome (MDS) 614286 10 13 ASXL1, EZH2, GATA2, PTPN11, SF3B1, TET2 - -