Term Name: | 46,XY sex reversal 6 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111769] ( DOID:0111769 ) |