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DO Term : Bethlem myopathy 1A [DOID:0061198] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22.

synonyms:
158810,
OMIM:158810

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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