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46,Xy Sex Reversal 9

Disease ID: disease_node_17158

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DbxrefMIM:616067
SubclassofDOID_0050736, DOID_14448
Data SourceDOID
Synonyms46,XY sex reversal, ZFPM2-related, SRXY9
Doid Label46,XY sex reversal 9
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 mutation in the ZFPM2 gene on chromosome 8q23.1.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_17158
Doid IdDOID_0111770
Label46,Xy Sex Reversal 9