Search Ontology:
Human Disease

46,XY sex reversal 6

Term ID
DOID:0111769
Synonyms
  • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
  • 46,XY sex reversal, partial or complete, MAP3K1-related
  • SRXY6
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 MAP3K1 gene on chromosome 5q11.2. (2)
References
Ontology
Human Disease   ( DOID:0111769 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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