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DO Term : autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DOID:0070247] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.

synonyms:
autosomal dominant limb-girdle muscular dystrophy type 1B,
EMD2,
muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant,
181350,
Emery-Dreifuss muscular dystrophy 2, autosomal dominant,
Hauptmann-Thannhauser muscular dystrophy,
Emery-Dreifuss muscular dystrophy, autosomal dominant,
ORDO:264,
EDMD2,
ICD10CM:G71.0,
OMIM:181350,
scapuloilioperoneal atrophy with cardiopathy

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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