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
|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)