|  Help  |  About  |  Contact Us

DO Term : familial adult myoclonic epilepsy 5 [DOID:0111691] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.
  • synonyms:
  • FAME5,
  • OMIM:615400,
  • FCMTE5,
  • familial cortical myoclonic tremor and epilepsy 5,
  • 615400
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents