DHRS11, dehydrogenase/reductase 11, 79154

N. diseases: 43; N. variants: 3
Disease: Ambiguous Genitalia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 Biomarker disease BEFREE Steroid 17β-hydroxysteroid dehydrogenase III (17β-HSD3) deficiency is a rare autosomal recessive disorder that usually presents in patients with a 46,XY karyotype with ambiguous genitalia at birth. 25536660 2015