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
03184 - Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 - - - SPR - -
03870 HH17 hypogonadism, hypogonadotropic, type 17 with/without anosmia (HH-17) 615266 AD - - SPRY4 - -
05763 ichthyosis ichthyosis - - 5 5 ASPRV1 - -
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 - -
06215 IGAN3 {?IgA nephropathy, susceptibility to, 3} 616818 AD - - SPRY2 - -
03028 LGSS Legius syndrome (LGSS) 611431 AD 204 204 SPRED1 - -
00383 NS Noonan syndrome (NS) - - 232 225 BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, SOS1, SOS2, SPRED2 - autosomal dominant
07064 NS14 Noonan syndrome, type 14 619745 AR - - SPRED2 - -
04277 RJALS Ruijs-Aalfs syndrome (RJALS) 616200 AR - - SPRTN - -
05193 SEMDFA dysplasia, spondylopeimetaphyseal, Faden-Alkuraya type (SEMDFA) 616723 AR 1 1 RSPRY1 - -
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