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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 10
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Accession:DOID:0111292 term browser browse the term
Definition:An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. (DO)
Synonyms:exact_synonym: EIG10;   GABRD-RELATED CONDITION
 narrow_synonym: EJM7
 related_synonym: idiopathic generalized epilepsy, susceptibility to, 10;   juvenile myoclonic epilepsy, susceptibility to, 7
 primary_id: OMIM:613060


show annotations for term's descendants           Sort by:
idiopathic generalized epilepsy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition ClinVar
OMIM		 PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              Generalized Epilepsy 392
                idiopathic generalized epilepsy 249
                  idiopathic generalized epilepsy 10 1
                    Generalized Epilepsy with Febrile Seizures Plus, Type 5 1
paths to the root