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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
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood Absence Epilepsy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:11326274, PMID:11326275, PMID:11748509, PMID:12097483, PMID:12117362, PMID:12477709, PMID:15342642, PMID:15470132, PMID:15866052, PMID:16510738, PMID:16924025, PMID:17148443, PMID:18094250, PMID:18414213, PMID:18566737, PMID:20485450, PMID:20551311, PMID:21425109, PMID:22190369, PMID:22539854, PMID:22750526, PMID:23708187, PMID:23720301, PMID:23935098, PMID:24407264, PMID:24480790, PMID:24630281, PMID:24811917, PMID:25726841, PMID:25730860, PMID:25731747, PMID:25741868, PMID:26467025, PMID:27066572, PMID:27334371, PMID:27340224, PMID:27367160, PMID:27864268, PMID:27899622, PMID:28460589, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29778030 NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    syndrome 6178
      electroclinical syndrome 375
        absence epilepsy 97
          childhood electroclinical syndrome 65
            childhood absence epilepsy 29
              Childhood Absence Epilepsy 2 1
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      nervous system disease 10042
        central nervous system disease 8491
          brain disease 7869
            epilepsy 1467
              electroclinical syndrome 375
                absence epilepsy 97
                  childhood electroclinical syndrome 65
                    childhood absence epilepsy 29
                      Childhood Absence Epilepsy 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.