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46,XY sex reversal 6
Summary
- Synonym
-
- 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
- 46,XY sex reversal, partial or complete, MAP3K1-related
- SRXY6
- 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.
- Super Class
- 46,XY sex reversal autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111769
- Mondo Disease Ontology
- OMIM
