DOID:0111776 - 46,XY sex reversal 5
Disease Ontology 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 CBX2 on chromosome 17q25.3.
Synonyms: 46,XY gonadal dysgenesis, complete, CBX2-related, 46,XY sex reversal, CBX2-related, SRXY5, disorder of sex development, 46,XY, CBX2-related, sex reversal, XY, CBX2-related
|OMIM:613080 - 46,XY SEX REVERSAL 5; SRXY5|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : cbx2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD