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Summary Literature (0)
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

Referenced OMIM:
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
Parent(s): 46,XY sex reversal (is_a), autosomal recessive disease (is_a)


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