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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 7
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Accession:DOID:0111295 term browser browse the term
Definition:A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. (DO)
Synonyms:exact_synonym: GEFS+, type 7;   GEFS+7;   GEFSP7;   generalised epilepsy with febrile seizures plus 7;   generalised epilepsy with febrile seizures plus type 7;   generalized epilepsy with febrile seizures plus, type 7
 narrow_synonym: FEB3B;   GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B;   familial febrile seizures 3B
 primary_id: MESH:C567827
 alt_id: OMIM:613863


show annotations for term's descendants           Sort by:
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 ClinVar PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		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 7 7
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 7 7
paths to the root