Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Juvenile absence epilepsy
Synonyms

JAE

Definitions

Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.

ID

http://www.orpha.net/ORDO/Orphanet_1941

alternative_term

JAE

definition

Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1941

has_age_of_onset

Adolescent

has_inheritance

Multigenic/multifactorial

Unknown

hasDbXref

MedDRA:10085031

UMLS:C4317339

OMIM:607631

ICD-10:G40.3

ICD-11:8A61.31

label

Juvenile absence epilepsy

notation

ORPHA:1941

part_of

http://www.orpha.net/ORDO/Orphanet_309

prefixIRI

ORDO:Orphanet_1941

prefLabel

Juvenile absence epilepsy

present_in

Europe AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_annual_incidence_average_value : 7.5 AND has_annual_incidence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_309

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_1941 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_1941 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_1941 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0800453 MONDO LOOM
http://www.case.edu/EpilepsyOntology.owl#JuvenileAbsenceEpilepsy EPSO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129868 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_101 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011876 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_0060172 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060172 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060172 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060172 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0060172 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060172 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060172 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060172 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060172 FNS-H LOOM
http://www.case.edu/EpSO.owl#JuvenileAbsenceEpilepsy MEPO LOOM
http://purl.obolibrary.org/obo/MONDO_0800453 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0800453 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0800453 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0800453 EFO LOOM
http://purl.bioontology.org/ontology/RCD/X006K RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/230413002 SNOMEDCT LOOM
http://www.semanticweb.org/ontologies/2009/3/EpilepsyOntology.owl#Juvenile_absence_epilepsy EPILONT LOOM
http://www.semanticweb.org/ontologies/2009/3/EpilepsyOntology.owl#Juvenile_absence_epilepsy MEPO LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClass369e6a90_3386_4133_8d78_03c6b06c5908 WWECA LOOM
http://purl.bioontology.org/ontology/RCTV2/F250400 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10085031 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C129868 BERO LOOM