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Autosomal Domit Emery-Dreifuss Muscular Dystrophy 4

Disease ID: disease_node_18881

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DbxrefMIM:612998
SubclassofDOID_0050736, DOID_11726
Data SourceDOID
SynonymsEDMD4, Emery-Dreifuss muscular dystrophy 4 with variable features, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Doid Labelautosomal domit Emery-Dreifuss muscular dystrophy 4
Doid DescriptionAn Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal domit mutation of the SYNE1 gene on chromosome 6q25.2.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18881
Doid IdDOID_0070249
LabelAutosomal Domit Emery-Dreifuss Muscular Dystrophy 4