Term Name: 46,XY sex reversal 2
Synonyms: 46,XY sex reversal, DAX1-related, 46XY sex reversal 2, dosage-sensitive, dosage-sensitive sex reversal, SRXY2
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.
Ontology: Human Disease [DOID:0111777]   ( DOID:0111777 )

Relationships
is a type of: 46,XY complete gonadal dysgenesis X-linked monogenic disease