Term Name: 46,XY sex reversal 6
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 )

Relationships
is a type of: 46,XY complete gonadal dysgenesis autosomal dominant disease