JSON

epilepsy, idiopathic generalized, susceptibility to, 11

^ http://purl.obolibrary.org/obo/MONDO_0011875

An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene. [ MONDO:patterns/disease_series_by_gene MONDO:patterns/inherited_susceptibility ]

Term info

database cross reference
  • DOID:0111312 (MONDO:equivalentTo)
  • OMIM:607628 (MONDO:equivalentTo)
Subsets

predisposition

abbreviation
EIG11 [ MONDO:Lexical OMIM:607628 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2543

definition

An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.

exactMatch

https://omim.org/entry/607628, http://purl.obolibrary.org/obo/DOID_0111312

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0011876, http://purl.obolibrary.org/obo/MONDO_0005579, http://purl.obolibrary.org/obo/MONDO_0009696

has exact synonym

epilepsy, idiopathic generalized, susceptibility to, type 11, epilepsy, idiopathic generalized, susceptibility to, 11, generalised epilepsy caused by mutation in CLCN2, EIG11, CLCN2 generalised epilepsy

has related synonym

epilepsy, juvenile absence, susceptibility to, 2, epilepsy, juvenile myoclonic, susceptibility to, 8, susceptibility to idiopathic generalized epilepsy 11

id

MONDO:0011875