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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Childhood Absence Epilepsy 2
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Accession:DOID:9009061 term browser browse the term
Synonyms:exact_synonym: ECA2
 broad_synonym: GABRG2-RELATED DISORDER
 related_synonym: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2


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Childhood Absence Epilepsy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-related disorder ClinVar PMID:9536098 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 More... NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    syndrome 10623
      electroclinical syndrome 1507
        absence epilepsy 239
          childhood electroclinical syndrome 103
            childhood absence epilepsy 26
              Childhood Absence Epilepsy 2 2
Path 2
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13506
        central nervous system disease 12077
          brain disease 11341
            epilepsy 2903
              electroclinical syndrome 1507
                absence epilepsy 239
                  childhood electroclinical syndrome 103
                    childhood absence epilepsy 26
                      Childhood Absence Epilepsy 2 2
paths to the root