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X-Linked Emery-Dreifuss Muscular Dystrophy 1

Disease ID: disease_node_18884

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DbxrefMIM:310300
SubclassofDOID_0080012, DOID_11726
Data SourceDOID
SynonymsEDMD1, EMD1, Emery-Dreifuss muscular dystrophy 1, X-linked, humeroperoneal neuromuscular disease, muscular dystrophy, tardive, Dreifuss-Emery type, with contractures, scapuloperoneal syndrome, X-linked
Doid LabelX-linked Emery-Dreifuss muscular dystrophy 1
Doid DescriptionAn Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_18884
Doid IdDOID_0070246
LabelX-Linked Emery-Dreifuss Muscular Dystrophy 1