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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:Generalized Epilepsy with Febrile Seizures Plus, Type 3
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Accession:DOID:9005485 term browser browse the term
Synonyms:exact_synonym: GEFS+, TYPE 3;   GEFSP3
 broad_synonym: GABRG2-RELATED DISORDER
 primary_id: MESH:C565811
 alt_id: RDO:0014353


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Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		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
              Febrile Seizures 60
                generalized epilepsy with febrile seizures plus 27
                  Generalized Epilepsy with Febrile Seizures Plus, Type 3 1
Path 2
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
                  generalized epilepsy with febrile seizures plus 27
                    Generalized Epilepsy with Febrile Seizures Plus, Type 3 1
paths to the root