"SRXY8"^^ . . _:vb50945433 . "OMIM:614279"^^ . _:vb50945433 . . "disease_ontology"^^ . _:vb50945433 . . "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase"^^ . "DOID:0111773"^^ . . _:vb50945433 . _:vb50945433 . "ORDO:443087"^^ . "TDD"^^ . "46,XY sex reversal 8"^^ . "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 homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1."^^ .