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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:9009305 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: MIM:611136
 alt_id: DOID:0111314


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Idiopathic Generalized Epilepsy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      electroclinical syndrome 1522
        absence epilepsy 255
          adolescence-adult electroclinical syndrome 141
            juvenile myoclonic epilepsy 13
              Idiopathic Generalized Epilepsy 13 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2941
              electroclinical syndrome 1522
                absence epilepsy 255
                  childhood electroclinical syndrome 111
                    childhood absence epilepsy 34
                      Idiopathic Generalized Epilepsy 13 1
paths to the root