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
00627 CRS1 craniosynostosis, type 1 (CRS-1) 123100 AD - - TWIST1 - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00628 RobinowSorauf Robinow-Sorauf syndrome 180750 AD - - TWIST1 - autosomal dominant
00529 SCS Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS) 101400 AD 14 12 FGFR2, TWIST1 - autosomal dominant
06747 SWCOS Sweeney-Cox syndrome 617746 AD - - TWIST1 - -
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