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DO Term : muscular dystrophy-dystroglycanopathy type B2 [DOID:0112380] 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 POMT2 gene on chromosome 14q24.3.

synonyms:
613156,
OMIM:613156,
MDDGB2,
congenital muscular dystrophy POMT2-related

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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