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
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 AD 51 51 CDKN1C, H19, KCNQ1OT1, NSD1 - -
00139 ID intellectual disability (ID) - - 2334 2032 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
00243 IMAGE intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE) 614732 AD 23 23 CDKN1C, POLE - -
00232 SRS;RSS Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS)) 180860 AD 111 110 CDKN1C, HMGA2, IGF2, PLAG1 - -
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