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Metadata
ID DOID:0070246
Name X-linked Emery-Dreifuss muscular dystrophy 1
Definition An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/8042665
Xrefs

OMIM:310300

Synonyms

EDMD1 [EXACT]

EMD1 [EXACT]

Emery-Dreifuss muscular dystrophy 1, X-linked [EXACT]

humeroperoneal neuromuscular disease [EXACT]

muscular dystrophy, tardive, Dreifuss-Emery type, with contractures [EXACT]

scapuloperoneal syndrome, X-linked [EXACT]

Parent Relationships

is_a Emery-Dreifuss muscular dystrophy

is_a X-linked recessive disease

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