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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
absence epilepsy +   
developmental and epileptic encephalopathy +   
An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
infancy electroclinical syndrome +   
neonatal period electroclinical syndrome +   
variable age at onset electroclinical syndrome +   

Synonyms
Narrow Synonyms: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY ;   KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY ;   RYR3-RELATED EPILEPTIC ENCEPHALOPATHY
Broad Synonyms: RYR3-RELATED CONDITION ;   TMEM63B-ASSOCIATED DISORDER
Xrefs: MIM:PS308350
Definition Sources: PMID:28276062 "DO" "DO", PMID:31926847 "DO" "DO"

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