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epilepsy, childhood absence, susceptibility to, 6

^ http://purl.obolibrary.org/obo/MONDO_0012763


An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene. [ MONDO:patterns/inherited_susceptibility MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:611942 (MONDO:equivalentTo)
Subsets

predisposition

abbreviation
ECA6 [ OMIM:611942 MONDO:Lexical ]

definition

An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.

exactMatch

https://omim.org/entry/611942

has exact synonym

ECA6, epilepsy, childhood absence, susceptibility to, type 6, epilepsy, childhood absence, susceptibility to, 6, susceptibility to childhood absence epilepsy 6

has related synonym

epilepsy, idiopathic generalized, susceptibility to, 6, childhood absence epilepsy caused by mutation in CACNA1H, CACNA1H childhood absence epilepsy

id

MONDO:0012763