JSON

epilepsy, idiopathic generalized, susceptibility to, 13

^ http://purl.obolibrary.org/obo/MONDO_0012627

An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. [ MONDO:patterns/inherited_susceptibility MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • Orphanet:64280 (OMIM:611136)
  • DOID:0111314 (MONDO:equivalentTo)
  • MESH:C567002 (MONDO:equivalentTo)
  • OMIM:611136 (MONDO:equivalentTo)
Subsets

predisposition

abbreviation
EIG13 [ OMIM:611136 MONDO:Lexical ]

definition

An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.

exactMatch

http://identifiers.org/mesh/C567002, https://omim.org/entry/611136, http://purl.obolibrary.org/obo/DOID_0111314

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005579

has exact synonym

epilepsy, idiopathic generalized, susceptibility to, type 13, susceptibility to idiopathic generalized epilepsy 13, epilepsy, idiopathic generalized, susceptibility to, 13, EIG13

has related synonym

epilepsy, childhood absence, susceptibility to, 4, epilepsy, juvenile myoclonic, susceptibility to, 5, juvenile myoclonic epilepsy caused by mutation in GABRA1, GABRA1 juvenile myoclonic epilepsy

id

MONDO:0012627