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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:juvenile absence epilepsy
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Accession:DOID:0060172 term browser browse the term
Definition:An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO)
Synonyms:exact_synonym: JAE;   juvenile absence epilepsies
 xref: OMIM:PS607631
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:17159113, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      electroclinical syndrome 393
        absence epilepsy 113
          adolescence-adult electroclinical syndrome 44
            juvenile absence epilepsy 2
              idiopathic generalized epilepsy 11 1
              juvenile absence epilepsy 1 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            epilepsy 1481
              electroclinical syndrome 393
                absence epilepsy 113
                  childhood electroclinical syndrome 76
                    childhood absence epilepsy 38
                      juvenile absence epilepsy 2
                        idiopathic generalized epilepsy 11 1
                        juvenile absence epilepsy 1 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.