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DO Term : X-linked Emery-Dreifuss muscular dystrophy 1 [DOID:0070246] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.

synonyms:
Emery-Dreifuss muscular dystrophy 1, X-linked,
310300,
EMD1,
OMIM:310300,
muscular dystrophy, tardive, Dreifuss-Emery type, with contractures,
humeroperoneal neuromuscular disease,
EDMD1,
scapuloperoneal syndrome, X-linked

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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