SRXY346,XY sex reversal, partial or complete, NR5A1-relatedsex reversal, XY, with or without adrenal failuredisorder of sex development, 46,XY, NR5A1-related46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
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 heterozygous mutation in NR5A1 on chromosome 9q33.3.