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DO Term : 46,XY sex reversal 3 [DOID:0111772] 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 heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.

synonyms:
sex reversal, XY, with or without adrenal failure,
46,XY sex reversal, partial or complete, NR5A1-related,
612965,
disorder of sex development, 46,XY, NR5A1-related,
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure,
SRXY3,
OMIM:612965

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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