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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 6
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Accession:DOID:9001945 term browser browse the term
Synonyms:exact_synonym: ECA6;   EIG6
 broad_synonym: CACNA1H-RELATED CONDITION
 related_synonym: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6;   EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
 primary_id: MIM:611942


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Childhood Absence Epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 ClinVar
OMIM		 PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      electroclinical syndrome 1522
        absence epilepsy 255
          childhood electroclinical syndrome 111
            childhood absence epilepsy 34
              Childhood Absence Epilepsy 6 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2941
              electroclinical syndrome 1522
                absence epilepsy 255
                  childhood electroclinical syndrome 111
                    childhood absence epilepsy 34
                      Childhood Absence Epilepsy 6 1
paths to the root