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DO Term : congenital muscular dystrophy-dystroglycanopathy type A3 [DOID:0111236] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.

synonyms:
Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related,
MDDGA3,
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3,
OMIM:253280,
253280

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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