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46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

Disease Summary
Associated Targets (2)
Tchem

2


Uniprot Description A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.
Mondo Term and Equivalent IDs
MONDO:0013664:  46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
DOID:0111773: 
MESH:C564109: 
Orphanet:443087: 
SCTID:49013001: 
UMLS:C1839840: