Term Name: | 46,XY sex reversal 2 |
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Synonyms: | 46,XY sex reversal, DAX1-related, 46XY sex reversal 2, dosage-sensitive, dosage-sensitive sex reversal, SRXY2 |
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 duplication of the NR0B1 gene on chromosome Xp21.2. |
Ontology: | Human Disease [DOID:0111777] ( DOID:0111777 ) |