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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:developmental and epileptic encephalopathy 13
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Accession:DOID:0080445 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: DEE13;   EIEE13;   early infantile epileptic encephalopathy 13
 primary_id: OMIM:614558
 xref: NCI:C188139


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developmental and epileptic encephalopathy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar PMID:20554659 PMID:25741868 PMID:28492532 NCBI chr 5:121,946,527...122,000,273
Ensembl chr 5:127,718,978...127,771,047 		JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:30,661,922...30,690,653 JBrowse link
G SCG3 secretogranin III ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:30,619,990...30,658,668
Ensembl chr15:48,950,839...48,989,481 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 OMIM
ClinVar		 PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:17576681 More... NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357 		JBrowse link
G TMOD2 tropomodulin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:30,690,641...30,757,960
Ensembl chr15:49,035,929...49,079,570 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    syndrome 10220
      electroclinical syndrome 1362
        developmental and epileptic encephalopathy 999
          developmental and epileptic encephalopathy 13 5
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      nervous system disease 13321
        central nervous system disease 11954
          brain disease 11238
            epilepsy 2807
              electroclinical syndrome 1362
                neonatal period electroclinical syndrome 966
                  early infantile epileptic encephalopathy 946
                    developmental and epileptic encephalopathy 13 5
paths to the root