SRXY8male pseudohermaphroditism due to deficiency of testicular 17,20-desmolaseTDD
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.