JSON

epilepsy, idiopathic generalized, susceptibility to, 8

^ http://purl.obolibrary.org/obo/MONDO_0013032

Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0111322 (MONDO:equivalentTo)
  • OMIM:612899 (MONDO:equivalentTo)
Subsets

predisposition

abbreviation
EIG8 [ OMIM:612899 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2543, https://github.com/monarch-initiative/mondo/issues/4521

definition

Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene.

exactMatch

https://omim.org/entry/612899, http://purl.obolibrary.org/obo/DOID_0111322

has exact synonym

epilepsy idiopathic generalized, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 8, CASR generalised epilepsy, generalised epilepsy caused by mutation in CASR, epilepsy, idiopathic generalized, susceptibility to, type 8

has related synonym

EIG8, susceptibility to idiopathic generalized epilepsy 8

id

MONDO:0013032