46, xy disorder of sex development

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
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
All3 Causal1 Unknown3
Related Diseases Diseases that share the most curated genes with 46, xy disorder of sex development.
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NR5A1-related sex development disorder 1 shared geneNR5A1 Related via 1 shared gene including NR5A1. Testotoxicosis 1 shared geneLHCGR Related via 1 shared gene including LHCGR. 46,xx sex reversal 1 shared geneNR5A1 Related via 1 shared gene including NR5A1. 46,xx ovotesticular disorder of sex development 1 shared geneNR5A1 Related via 1 shared gene including NR5A1. Disorders of sex development 1 shared geneLHCGR Related via 1 shared gene including LHCGR.