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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 57
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Accession:DOID:0080284 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: DEE57;   EIEE57;   early infantile epileptic encephalopathy 57
 primary_id: OMIM:617771



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developmental and epileptic encephalopathy 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnt2 potassium channel, subfamily T, member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 OMIM
ClinVar
PMID:24166878 PMID:25741868 PMID:26724206 PMID:29069600 PMID:29314763 More... NCBI chr 1:140,173,373...140,541,783
Ensembl chr 1:140,173,896...140,539,805
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    syndrome 10278
      electroclinical syndrome 1353
        developmental and epileptic encephalopathy 985
          developmental and epileptic encephalopathy 57 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      nervous system disease 13469
        central nervous system disease 12052
          brain disease 11311
            epilepsy 2802
              electroclinical syndrome 1353
                neonatal period electroclinical syndrome 958
                  early infantile epileptic encephalopathy 938
                    developmental and epileptic encephalopathy 57 1
paths to the root