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46,Xy Sex Reversal 10

Disease ID: disease_node_15240

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DbxrefMIM:616425
SubclassofDOID_0050736, DOID_14448, DOID_0060388
Data SourceDOID
SynonymsSRXY10, chromosome 17q24 deletion syndrome
Doid Label46,XY sex reversal 10
Doid DescriptionA 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15240
Doid IdDOID_0111775
Label46,Xy Sex Reversal 10