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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 103
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Accession:DOID:0070389 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: DEE103;   KCNC2-RELATED CONDITION;   early infantile epileptic encephalopathy 103
 primary_id: OMIM:619913
 alt_id: DOID:9005278


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developmental and epileptic encephalopathy 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc2 potassium voltage-gated channel subfamily C member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 103 | ClinVar Annotator: match by term: KCNC2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31972370 PMID:32392612 More... NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      electroclinical syndrome 1351
        developmental and epileptic encephalopathy 976
          developmental and epileptic encephalopathy 103 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            epilepsy 2802
              electroclinical syndrome 1351
                developmental and epileptic encephalopathy 976
                  developmental and epileptic encephalopathy 103 1
paths to the root