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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 alpha1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
JBrowse link

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 13 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
                  adolescence-adult electroclinical syndrome 39
                    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.