Term Name: | X-linked Emery-Dreifuss muscular dystrophy 1 |
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Synonyms: | EDMD1, EMD1, Emery-Dreifuss muscular dystrophy 1, X-linked, humeroperoneal neuromuscular disease, muscular dystrophy, tardive, Dreifuss-Emery type, with contractures, scapuloperoneal syndrome, X-linked |
Definition: | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. |
Ontology: | Human Disease [DOID:0070246] ( DOID:0070246 ) |