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Paroxysmal Nonkinesigenic Dyskinesia 1

Disease ID: disease_node_14357

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DbxrefICD10CM:G24.8, MIM:118800, ORDO:98810
SubclassofDOID_0050736, DOID_543
Data SourceDOID
Doid Labelparoxysmal nonkinesigenic dyskinesia 1
Doid DescriptionA dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal domit inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.
Has Material Basis InGENO_0000147
Has Disease DriverCHEBI_30879
Disease Node Iddisease_node_14357
Doid IdDOID_0090049
LabelParoxysmal Nonkinesigenic Dyskinesia 1