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DO Term : 46,XY sex reversal 1 [DOID:0111778] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 mutation in SRY on chromosome Yp11.2.
  • synonyms:
  • OMIM:400044,
  • 46,XY sex reversal, SRY-related,
  • 46,XY gonadal dysgenesis, complete, SRY-related,
  • SRXY1,
  • 400044
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents