JSON

epilepsy, idiopathic generalized, susceptibility to, 9

^ http://purl.obolibrary.org/obo/MONDO_0011892

Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0111323 (MONDO:equivalentTo)
  • OMIM:607682 (MONDO:equivalentTo)
Subsets

predisposition

abbreviation
EIG9 [ MONDO:Lexical OMIM:607682 ]

IAO 0000233

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

definition

Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111323, https://omim.org/entry/607682

has exact synonym

epilepsy, idiopathic generalized, susceptibility to, type 9, epilepsy, idiopathic generalized, susceptibility to, 9, CACNB4 generalised epilepsy, generalised epilepsy caused by mutation in CACNB4

has related synonym

epilepsy, juvenile myoclonic, susceptibility to, 6, EIG9, susceptibility to idiopathic generalized epilepsy 9

id

MONDO:0011892