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| Term | 46,XY sex reversal 6 | ID (Ontology) | DOID:0111769 (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 heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. | ||
| Also Known As | "46,XY gonadal dysgenesis, partial or complete, MAP3K1-related" ; "46,XY sex reversal, partial or complete, MAP3K1-related" ; "SRXY6" | ||
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autosomal genetic disease |__autosomal dominant disease_________ gonadal dysgenesis | |__46,XY complete gonadal dysgenesis__| 46,XY sex reversal 6 |
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autosomal dominant disease 46,XY complete gonadal dysgenesis |
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| MIM:613762 | |||