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DO Term : muscular dystrophy-dystroglycanopathy type B3 [DOID:0112378] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.

synonyms:
congenital muscular dystrophy POMGNT1-related,
OMIM:613151,
MDDGB3,
613151

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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