JSON

juvenile myoclonic epilepsy

^ http://purl.obolibrary.org/obo/MONDO_0009696

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). [ Orphanet:307 ]

Term info

database cross reference
  • DOID:4890 (MONDO:equivalentTo)
  • GARD:0006808 (MONDO:equivalentTo)
  • NCIT:C84796 (MONDO:equivalentTo)
  • MESH:D020190 (Orphanet:307/e)
  • ICD9:345.10 (MONDO:relatedTo)
  • OMIMPS:254770 (MONDO:equivalentTo)
  • Orphanet:307 (OMIM:254770)
  • SCTID:6204001 (MONDO:equivalentTo)
  • EFO:0006572 (MONDO:equivalentTo)
  • OMIM:606904 (MONDO:equivalentObsolete)
  • OMIM:254770 (Orphanet:307/e)
  • UMLS:C0270853 (Orphanet:307/e)
  • MedDRA:10071082 (Orphanet:307/e)
Subsets

gard_rare, ordo_disease, predisposition

abbreviation
JME [ Orphanet:307 ]

abbreviation
EJM [ MONDO:Lexical OMIM:254770 ]

closeMatch

http://identifiers.org/meddra/10071082

definition

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).

exactMatch

https://omim.org/entry/254770, http://identifiers.org/snomedct/6204001, http://linkedlifedata.com/resource/umls/id/C0270853, http://purl.obolibrary.org/obo/NCIT_C84796, https://omim.org/phenotypicSeries/PS254770, http://purl.obolibrary.org/obo/DOID_4890, http://purl.obolibrary.org/obo/Orphanet_307, http://identifiers.org/mesh/D020190

has exact synonym

JME, myoclonic epilepsy, juvenile, 1, epilepsy, myoclonic juvenile, EJM, juvenile myoclonus epilepsy, myoclonic epilepsy, juvenile

has narrow synonym

Janz syndrome, myoclonic epilepsy, juvenile, susceptibility to, 1, petit mal, impulsive

id

MONDO:0009696

seeAlso

https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy