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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 7
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Accession:DOID:0111321 term browser browse the term
Definition:An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. (DO)
Synonyms:exact_synonym: EIG7;   EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7
 narrow_synonym: EJM2;   MYOCLONIC EPILEPSY, JUVENILE, 2
 primary_id: OMIM:604827


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idiopathic generalized epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G EFHC1 EF-hand domain containing 1 IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      electroclinical syndrome 1760
        absence epilepsy 257
          adolescence-adult electroclinical syndrome 139
            juvenile myoclonic epilepsy 13
              idiopathic generalized epilepsy 7 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            epilepsy 3685
              electroclinical syndrome 1760
                absence epilepsy 257
                  adolescence-adult electroclinical syndrome 139
                    juvenile myoclonic epilepsy 13
                      idiopathic generalized epilepsy 7 3
paths to the root