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DO Term : 46,XY sex reversal 8 [DOID:0111773] 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 homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.

synonyms:
614279,
SRXY8,
OMIM:614279,
ORDO:443087,
male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase,
TDD

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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