SRXY7GDXYM46,XY gonadal dysgenesis, partial or complete, DHH-relatedgonadal dysgenesis, XY, male limited46,XY sex reversal, partial or complete, DHH-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 homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.