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Human Disease

46,XY sex reversal 10

Term ID
DOID:0111775
Synonyms
  • chromosome 17q24 deletion syndrome
  • SRXY10
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 deletion of a region upstream of the SOX9 gene on chromosome 17q24. (2)
References
Ontology
Human Disease   ( DOID:0111775 )
Relationships
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Genes Involved
Zebrafish Models