Term Name: | 46,XY sex reversal 1 |
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Synonyms: | 46,XY gonadal dysgenesis, complete, SRY-related, 46,XY sex reversal, SRY-related, SRXY1 |
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 hemizygous mutation in SRY on chromosome Yp11.2. |
Ontology: | Human Disease [DOID:0111778] ( DOID:0111778 ) |