All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00633 - steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency 613571 - - - POR - -
00632 ABS1 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS-1) 201750 AR 3 3 POR - -
01322 ECYT1 erythrocytosis, familial, type 1 (ECYT-1) 133100 - 24 24 EPOR, JAK2, SH2B3 - -
00298 FDH hypoplasia, dermal, focal (FDH) 305600 XLD 219 218 PORCN - X-linked dominant
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 - -
02885 RP31 retinitis pigmentosa, type 31 (RP31) 609923 - - - TOPORS - -
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