|  Help  |  About  |  Contact Us

DO Term : familial adult myoclonic epilepsy 3 [DOID:0111695] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2.
  • synonyms:
  • FCMTE3,
  • familial cortical myoclonic tremor and epilepsy 3,
  • OMIM:613608,
  • 613608,
  • FAME3
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