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Myoclonic Dystonia 11

Disease ID: disease_node_14354

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DbxrefICD10CM:G24.1, MIM:159900, ORDO:36899
SubclassofDOID_0050736, DOID_0090033
Data SourceDOID
Doid Labelmyoclonic dystonia 11
Doid DescriptionA myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal domit inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_14354
Doid IdDOID_0090034
LabelMyoclonic Dystonia 11