JSON

epilepsy, idiopathic generalized, susceptibility to, 10

^ http://purl.obolibrary.org/obo/MONDO_0013103

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

Term info

database cross reference
  • OMIM:613060 (MONDO:equivalentTo)
  • DOID:0111292 (MONDO:equivalentTo)
Subsets

predisposition

abbreviation
EIG10 [ OMIM:613060 MONDO:Lexical ]

IAO 0000233

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

definition

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0111292, https://omim.org/entry/613060

has exact synonym

epilepsy, idiopathic generalized, susceptibility to, type 10, susceptibility to idiopathic generalized epilepsy 10, epilepsy, idiopathic generalized, 10, epilepsy, juvenile myoclonic, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 10, EIG10

has related synonym

generalized epilepsy with febrile seizures plus, type 5, susceptibility to, GEFSP5, susceptibility to, GEFS+5, susceptibility to, GEFS+, type 5, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 7

id

MONDO:0013103