Term Name: | 46,XY sex reversal 7 |
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Synonyms: | 46,XY gonadal dysgenesis, partial or complete, DHH-related, 46,XY sex reversal, partial or complete, DHH-related, GDXYM, gonadal dysgenesis, XY, male limited, SRXY7 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111774] ( DOID:0111774 ) |