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Autosomal Domit Emery-Dreifuss Muscular Dystrophy 5

Disease ID: disease_node_18880

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DbxrefMIM:612999
SubclassofDOID_0050736, DOID_11726
Data SourceDOID
SynonymsEDMD5, Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Doid Labelautosomal domit Emery-Dreifuss muscular dystrophy 5
Doid DescriptionAn Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal domit mutation of the SYNE2 gene on chromosome 14q23.2.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18880
Doid IdDOID_0070250
LabelAutosomal Domit Emery-Dreifuss Muscular Dystrophy 5