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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 2
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Accession:DOID:0111294 term browser browse the term
Definition:A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. (DO)
Synonyms:exact_synonym: GEFS+, type 2;   GEFS+2;   GEFSP2;   generalised epilepsy with febrile seizures plus 2;   generalised epilepsy with febrile seizures plus type 2;   generalized epilepsy with febrile seizures plus, type 2
 narrow_synonym: FEB3A;   GEFS+2 familial febrile seizures 3A
 primary_id: MESH:C565810
 alt_id: OMIM:604403
For additional species annotation, visit the Alliance of Genome Resources.



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generalized epilepsy with febrile seizures plus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO DNA:missense mutations:cds:p.T875M, p.R1648H (human)
ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
OMIM
ClinVar
RGD
PMID:1893009 PMID:1893099 PMID:9126059 PMID:10486327 PMID:10521305 More... RGD:727292 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            epilepsy 2692
              Febrile Seizures 47
                generalized epilepsy with febrile seizures plus 16
                  generalized epilepsy with febrile seizures plus 2 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            epilepsy 2692
              Generalized Epilepsy 328
                idiopathic generalized epilepsy 194
                  generalized epilepsy with febrile seizures plus 16
                    generalized epilepsy with febrile seizures plus 2 1
paths to the root