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DO Term : 46,XY sex reversal 6 [DOID:0111769] 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 MAP3K1 gene on chromosome 5q11.2.

synonyms:
46,XY gonadal dysgenesis, partial or complete, MAP3K1-related,
613762,
46,XY sex reversal, partial or complete, MAP3K1-related,
SRXY6,
OMIM:613762

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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