Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432470
Disease: 46, XY female
46, XY female
0.010 Biomarker disease BEFREE HSD17B3 deficiency is prevalent in the adolescent and adult 46,XY female DSD population and is often associated with lesser degrees of virilisation compared with those with 5α-reductase deficiency. 25740850 2015