Search Ontology:
Human Disease

46,XY sex reversal 7

Term ID
DOID:0111774
Synonyms
  • 46,XY gonadal dysgenesis, partial or complete, DHH-related
  • 46,XY sex reversal, partial or complete, DHH-related
  • GDXYM
  • gonadal dysgenesis, XY, male limited
  • SRXY7
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 homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. (2)
References
Ontology
Human Disease   ( DOID:0111774 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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