OBO ID: DOID:0111777
Term Name: 46,XY sex reversal 2 Search Ontology:
Synonyms:
  • 46,XY sex reversal, DAX1-related
  • 46XY sex reversal 2, dosage-sensitive
  • dosage-sensitive sex reversal
  • SRXY2
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 duplication of NR0B1 on chromosome Xp21.2. (3)
References:
Ontology: Human Disease   (DOID:0111777)
OTHER 46,XY sex reversal 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NR0B1 46XY sex reversal 2, dosage-sensitive 300018
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None