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
05192 ECCL lipomatosis, encephalocraniocutaneous (ECCL) 613001 - - - FGFR1 - -
04474 FGFR1OP myeloproliferative disorder (FGFR-1OP) 605392 - - - FGFR1OP - -
00651 HH2;KAL2 hypogonadism, hypogonadotropic, type 2 with/without anosmia (HH2) 147950 AD 6 5 FGFR1 - -
01388 HH7 hypogonadism, hypogonadotropic, type 7 (HH7) 146110 AR 4 4 FGFR1, FSHB, GNRH1, GNRHR, WDR11 - -
04473 HRTFDS Hartsfield syndrome (HRTFDS) 615465 AD 1 1 FGFR1 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00650 JWS Jackson-Weiss syndrome 123150 AD - - FGFR1, FGFR2 - -
00652 OGD dysplasia, osteoglophonic (OGD) 166250 AD - - FGFR1 - -
00526 Pfeiffer Pfeiffer syndrome 101600 AD 21 21 FGFR1, FGFR2 - -
00653 TRIGNO1 trigonocephaly, type 1 (TRIGNO-1) 190440 AD - - FGFR1 - -
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