"46,XY gonadal dysgenesis, complete, SRY-related"^^ . "disease_ontology"^^ . . . _:vb50945448 . . _:vb50945448 . "SRXY1"^^ . "DOID:0111778"^^ . "OMIM:400044"^^ . . _:vb50945448 . "46,XY sex reversal, SRY-related"^^ . "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2."^^ . _:vb50945448 . _:vb50945448 . "46,XY sex reversal 1"^^ .