46,XY sex reversal, partial or complete, MAP3K1-relatedSRXY646,XY gonadal dysgenesis, partial or complete, MAP3K1-related
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 MAP3K1 on chromosome 5q11.2.