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Familial Adult Myoclonic Epilepsy 7

Disease ID: disease_node_16285

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DbxrefMIM:618075
SubclassofDOID_0050736, DOID_0111689
Data SourceDOID
SynonymsBAFME7, FAME7, FCMTE7, benign adult familial myoclonic epilepsy 7, familial cortical myoclonic tremor and epilepsy 7
Doid Labelfamilial adult myoclonic epilepsy 7
Doid DescriptionA familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.
Existence Starts DuringHP_0003581
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16285
Doid IdDOID_0111694
LabelFamilial Adult Myoclonic Epilepsy 7