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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 1
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Accession:DOID:0081421 term browser browse the term
Definition:A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: FFEVF1;   partial epilepsy with variable foci
 broad_synonym: DEPDC5-related disorder
 primary_id: MESH:C565785
 alt_id: DOID:9001601;   OMIM:604364
 xref: NCI:C161005

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familial focal epilepsy with variable foci 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20864493 PMID:23542697 More... NCBI chr19:14,634,836...14,798,050
Ensembl chr19:14,635,947...14,787,591 		JBrowse link
G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:20810575 PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 More... NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G NPRL2 NPR2 like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr22:11,735,853...11,739,325 JBrowse link
G NPRL3 NPR3 like, GATOR1 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:40,674...94,265
Ensembl chr 5:43,150...94,174 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14894
      nervous system disease 12973
        central nervous system disease 11626
          brain disease 10914
            epilepsy 2746
              focal epilepsy 370
                familial focal epilepsy with variable foci 9
                  familial focal epilepsy with variable foci 1 5
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