All diseases

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00673 - Scaphocephaly, maxillary retrusion, and mental retardation 609579 - 0 0 FGFR2 - -
00950 - dysplasia, craniofacial-skeletal-dermatologic - - 0 0 FGFR2 - -
00951 - Scaphocephaly and Axenfeld-Rieger anomaly - - 0 0 FGFR2 - -
00672 ABS2 Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS-2) 207410 AD 0 0 FGFR2 - -
00524 Apert Apert syndrome 101200 AD 7 7 FGFR2 - -
00674 BBDS dysplasia, bent bone syndrome (BBDS) 614592 AD 5 5 FGFR2 - -
00528 BSTVS Beare-Stevenson syndrome (BSTVS) 123790 AD 2 2 FGFR2 - -
03381 cancer, gastric cancer, gastric (Neoplasm of stomach) 613659 - 102 88 APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA - -
00949 craniosynost. craniosynostosis, nonspecific - AR 13 13 FGFR2 - -
00525 Crouzon Crouzon syndrome 123500 AD 29 29 FGFR2 - -
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 - -
00650 JWS Jackson-Weiss syndrome 123150 AD 0 0 FGFR1, FGFR2 - -
00599 LADD LADD syndrome (lacrimoauriculodentodigital, Levy-Hollister) 149730 AD 8 8 FGF10, FGFR2, FGFR3 - -
00526 Pfeiffer Pfeiffer syndrome 101600 AD 21 21 FGFR1, FGFR2 - -
00529 SCS Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS) 101400 AD 13 11 FGFR2, TWIST1 - autosomal dominant
Legend   How to query