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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 chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129 		JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chrNW_004955409:2,862,478...2,874,017 JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chrNW_004955409:2,876,355...2,907,363
Ensembl chrNW_004955409:2,875,017...2,907,363 		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 chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chrNW_004955409:2,801,173...2,842,717
Ensembl chrNW_004955409:2,808,543...2,842,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    syndrome 9376
      electroclinical syndrome 1242
        developmental and epileptic encephalopathy 897
          developmental and epileptic encephalopathy 13 5
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      nervous system disease 12114
        central nervous system disease 10884
          brain disease 10218
            epilepsy 2602
              electroclinical syndrome 1242
                neonatal period electroclinical syndrome 869
                  early infantile epileptic encephalopathy 849
                    developmental and epileptic encephalopathy 13 5
paths to the root