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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 the SOX9 gene on chromosome 17q24.
Synonyms: chromosome 17q24 deletion syndrome, SRXY10
Xenbase Genes
:
sox9
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
46,XY sex reversal (is_a),
autosomal dominant disease (is_a),
chromosomal deletion syndrome (is_a)