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Summary Literature (0)
DOID:0111775 - 46,XY sex reversal 10


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 heterozygous deletion of a region upstream of SOX9 on chromosome 17q24.

Synonyms: SRXY10, chromosome 17q24 deletion syndrome

In OMIM:
OMIM:616425 - 46,XY SEX REVERSAL 10; SRXY10


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sox9

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): 46,XY sex reversal (is_a), autosomal dominant disease (is_a), chromosomal deletion syndrome (is_a)