OBO ID: DOID:0111772
Term Name: 46,XY sex reversal 3 Search Ontology:
Synonyms:
  • 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
  • 46,XY sex reversal, partial or complete, NR5A1-related
  • disorder of sex development, 46,XY, NR5A1-related
  • sex reversal, XY, with or without adrenal failure
  • SRXY3
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 NR5A1 gene on chromosome 9q33.3. (2)
References:
Ontology: Human Disease   ( DOID:0111772 )
Relationships
is a type of:
OTHER 46,XY sex reversal 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NR5A1 46XY sex reversal 3 612965
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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