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DO Term : 46,XY sex reversal 2 [DOID:0111777] 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 duplication of the NR0B1 gene on chromosome Xp21.2.

synonyms:
46,XY sex reversal, DAX1-related,
OMIM:300018,
GARD:9159,
SRXY2,
300018,
46XY sex reversal 2, dosage-sensitive,
dosage-sensitive sex reversal

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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