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| Term | 46,XY sex reversal 2 | ID (Ontology) | DOID:0111777 (Human Disease) |
| 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. | ||
| Also Known As | "46,XY sex reversal, DAX1-related" ; "46XY sex reversal 2, dosage-sensitive" ; "dosage-sensitive sex reversal" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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monogenic disease |__X-linked monogenic disease_________ gonadal dysgenesis | |__46,XY complete gonadal dysgenesis__| 46,XY sex reversal 2 |
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X-linked monogenic disease 46,XY complete gonadal dysgenesis |
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GARD:9159 MIM:300018 |
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