46,XX sex reversal 2

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Summary

Literature (0)

DOID:0111763 - 46,XX sex reversal 2

Disease Ontology Definition:A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.

Synonyms: SRXX2, chromosome 17q24 dupication syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): 46,XX sex reversal (is_a), autosomal dominant disease (is_a)