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Human Disease

46,XY sex reversal 1

Term ID
DOID:0111778
Synonyms
  • 46,XY gonadal dysgenesis, complete, SRY-related
  • 46,XY sex reversal, SRY-related
  • SRXY1
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 mutation in SRY on chromosome Yp11.2. (2)
References
Ontology
Human Disease   ( DOID:0111778 )
Relationships
is a type of
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Genes Involved
Zebrafish Models