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GENE - TERM ANNOTATION REPORT

RGD ID: 3960
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Vhl
Name: von Hippel-Lindau tumor suppressor
Acc ID: DOID:9005154
Term: Myoclonic Epilepsies
Definition: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Definition Source(s): MESH:D004831
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Vhl ISOVHL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myoclonic-astatic epilepsyPMID:25865495 PMID:28492532 PMID:31401500
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