Term Name: 46,XY sex reversal 1
Synonyms: 46,XY gonadal dysgenesis, complete, SRY-related, 46,XY sex reversal, SRY-related, SRXY1
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 mutation in SRY on chromosome Yp11.2.
Ontology: Human Disease [DOID:0111778]   ( DOID:0111778 )

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