All diseases

16 entries on 1 page. Showing entries 1 - 16.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00598 - cancer, cervical, somatic 603956 - 4 4 FGFR3 - -
00600 - nevus, epidermal 162900 - 1 1 FGFR3, HRAS, NRAS, PIK3CA - -
00594 ACH achondroplasia (ACH) 100800 AD 2 2 FGFR3 - -
00597 CAN Crouzon, with acanthosis nigricans syndrome (CAN) 612247 AD - - FGFR3 - -
00315 cancer, bladder cancer, bladder 109800 - 63 63 FGFR3, HRAS, KRAS, RB1 - -
00447 CATSHLS CATSHL syndrome 610474 AD;AR - - FGFR3 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
00595 HCH hypochondroplasia (HCH) 146000 AD 3 3 FGFR3 - -
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 - -
00599 LADD lacrimoauriculodentodigital syndrome - AD 9 9 FGF10, FGFR2, FGFR3 - -
07091 LADD2 lacrimoauriculodentodigital syndrome, type 2 620192 AD - - FGFR3 - -
00527 MNKES Muenke syndrome (MNKES) 602849 AD 2 2 FGFR3 - -
04475 SADDAN SADDAN 616482 AD - - FGFR3 - -
00596 TD1 dysplasia, thanatophoric, type I (TD1) 187600 AD - - FGFR3 - -
00601 TD2 dysplasia, thanatophoric, type II (TD2) 187601 AD - - FGFR3 - -
00602 TGCT tumor, germ cell, testicular (TGCT, spermatocytic seminoma, somatic) 273300 - 7 3 BCL10, FGFR3, KIT, STK11 - -
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