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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:idiopathic generalized epilepsy 11
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Accession:DOID:0111312 term browser browse the term
Definition:An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. (DO)
Synonyms:exact_synonym: EIG11
 narrow_synonym: EJA2;   EJM8
 related_synonym: idiopathic generalized epilepsy, susceptibility to, 11;   juvenile absence epilepsy, susceptibility to, 2;   juvenile myoclonic epilepsy, susceptibility to, 8
 primary_id: OMIM:607628
For additional species annotation, visit the Alliance of Genome Resources.


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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, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
OMIM
ClinVar
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
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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
          adolescence-adult electroclinical syndrome 39
            juvenile myoclonic epilepsy 10
              idiopathic generalized epilepsy 11 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
                      juvenile absence epilepsy 2
                        idiopathic generalized epilepsy 11 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.