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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 :


OMIM:
OMIM:278850 - 46,XX SEX REVERSAL 2; SRXX2

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)