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DO Term : myofibrillar myopathy 3 [DOID:0080094] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.

synonyms:
spheroid body myopathy,
ORDO:268129,
ORDO:266,
LGMD 1A,
DOID:0110300,
MESH:C000598645,
609200,
LGMD1A,
GARD:8711,
myotilinopathy,
ICD10CM:G71.0,
GARD:10229,
autosomal dominant limb-girdle muscular dystrophy type 1A,
MESH:C535906,
OMIM:609200,
DOID:0080091

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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