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DO Term : congenital muscular dystrophy-dystroglycanopathy type A6 [DOID:0111242] 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 LARGE on 22q12.3.

synonyms:
MDDGA6,
613154,
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6,
Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related,
OMIM:613154

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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