All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00633 - Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 - - - POR - -
00632 ABS-1 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS-1) 201750 - - - POR - -
00672 ABS-2 Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS-2) 207410 - - - FGFR2, POR - -
01322 ECYT-1 erythrocytosis, familial, type 1 (ECYT-1) 133100 - - - EPOR, JAK2, SH2B3 - -
00298 FDH hypoplasia, dermal, focal (FDH) 305600 - - - PORCN - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
02885 RP-31 retinitis pigmentosa, type 31 (RP-31) 609923 - - - TOPORS - -
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