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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 alpha 1 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 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 chr10:26,876,926...26,965,523
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      electroclinical syndrome 1519
        absence epilepsy 255
          childhood electroclinical syndrome 111
            childhood absence epilepsy 34
              Childhood Absence Epilepsy 2 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            epilepsy 2936
              electroclinical syndrome 1519
                absence epilepsy 255
                  childhood electroclinical syndrome 111
                    childhood absence epilepsy 34
                      Childhood Absence Epilepsy 2 2
paths to the root