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Human Disease

46,XY sex reversal 9

Term ID
DOID:0111770
Synonyms
  • 46,XY sex reversal, ZFPM2-related
  • SRXY9
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 mutation in the ZFPM2 gene on chromosome 8q23.1. (2)
References
Ontology
Human Disease   ( DOID:0111770 )
Relationships
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Genes Involved
Zebrafish Models