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developmental and epileptic encephalopathy 13 - Ontology Report - Rat Genome Database

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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
 xref: MIM:614558;   MONDO:0013801;   NCI:C188139

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show annotations for term's descendants           Sort by:
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 chr18:52,208,035...52,240,293
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr 8:85,259,443...85,274,876
Ensembl chr 8:76,379,219...76,394,654 		JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar PMID:25741868 NCBI chr 1:4,940,207...5,238,777
Ensembl chr 1:3,121,332...3,439,870 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr 8:85,280,253...85,322,484
Ensembl chr 8:76,399,777...76,442,015 		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 chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr 8:85,197,222...85,250,627
Ensembl chr 8:76,325,667...76,365,720 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      electroclinical syndrome 1518
        developmental and epileptic encephalopathy 1125
          developmental and epileptic encephalopathy 13 6
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            epilepsy 2935
              electroclinical syndrome 1518
                neonatal period electroclinical syndrome 1098
                  early infantile epileptic encephalopathy 1077
                    developmental and epileptic encephalopathy 13 6
paths to the root