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Human Disease

46,XY sex reversal 2

Term ID
DOID:0111777
Synonyms
  • 46,XY sex reversal, DAX1-related
  • 46XY sex reversal 2, dosage-sensitive
  • dosage-sensitive sex reversal
  • SRXY2
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 hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. (3)
References
Ontology
Human Disease   ( DOID:0111777 )
Relationships
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Genes Involved
Zebrafish Models