National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Juvenile Absence Epilepsy
Synonyms

Juvenile Absence Epilepsy

Definitions

A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129868

code

C129868

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1.

FULL_SYN

Juvenile Absence Epilepsy

label

Juvenile Absence Epilepsy

NCI_META_CUI

CL512872

Preferred_Name

Juvenile Absence Epilepsy

prefixIRI

Thesaurus:C129868

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C199475

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3021

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0800453 MONDO LOOM
http://www.case.edu/EpilepsyOntology.owl#JuvenileAbsenceEpilepsy EPSO 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://www.orpha.net/ORDO/Orphanet_1941 ORDO 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