Term Name:	46,XY sex reversal 5
Synonyms:	46,XY gonadal dysgenesis, complete, CBX2-related, 46,XY sex reversal, CBX2-related, disorder of sex development, 46,XY, CBX2-related, sex reversal, XY, CBX2-related, SRXY5
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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
Ontology:	Human Disease [DOID:0111776]   ( DOID:0111776 )