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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 13
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Accession:DOID:0111314 term browser browse the term
Definition:An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. (DO)
Synonyms:exact_synonym: EIG13
 narrow_synonym: ECA4;   EJM5;   EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
 related_synonym: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
 primary_id: OMIM:611136
For additional species annotation, visit the Alliance of Genome Resources.


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idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar
OMIM
PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:18534981, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27521439, PMID:28251550, PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      electroclinical syndrome 393
        absence epilepsy 113
          adolescence-adult electroclinical syndrome 44
            juvenile myoclonic epilepsy 10
              idiopathic generalized epilepsy 13 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            epilepsy 1481
              electroclinical syndrome 393
                absence epilepsy 113
                  adolescence-adult electroclinical syndrome 44
                    juvenile myoclonic epilepsy 10
                      idiopathic generalized epilepsy 13 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.