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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:familial focal epilepsy with variable foci 4
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Accession:DOID:0081424 term browser browse the term
Definition:A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)
Synonyms:exact_synonym: FFEVF4
 broad_synonym: SCN3A-RELATED CONDITION;   SCN3A-related disorder
 primary_id: MIM:617935
 alt_id: DOID:9009166


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familial focal epilepsy with variable foci 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A-related disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18242854 PMID:20420834 PMID:24157691 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            epilepsy 2996
              focal epilepsy 389
                familial focal epilepsy with variable foci 15
                  familial focal epilepsy with variable foci 4 1
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