46, xy disorder of sex development

Disease Term Disease ID Gene Symbol Classification References Source
46,XY DISORDER OF SEX DEVELOPMENT
MONDO:0020040
DMRT1 Unknown — GenCC
46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY
MONDO:0009916
HSD17B3 Unknown — GenCC
46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY
MONDO:0009923
SRD5A2 Unknown
1406794 1944596 20736251 22453073 28663096 7554313 8768837
GWAS catalog
46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY
MONDO:0019597
CYB5A Unknown
20080843
GWAS catalog
CYP17A1 Unknown
12466376
Disgenet
46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY
MONDO:0013664
AKR1C2 Causal
21802064
GWAS catalog
AKR1C4 Unknown — GenCC
CONGENITAL ADRENAL INSUFFICIENCY WITH 46, XY SEX REVERSAL OR 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY
MONDO:0013400
CYP11A1 Causal
15507506 22435390 229968487 27855232
ClinVar GWAS catalog
DISORDER OF SEX DEVELOPMENT, 46,XY
MESH:D058490
CYP11A1 Unknown
11502818
CTD
LHCGR Unknown
19887492 7719343
CTD
NR5A1 Unknown — CTD