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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 68
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Accession:DOID:0112204 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. (DO)
Synonyms:exact_synonym: DEE68;   EIEE68;   early infantile epileptic encephalopathy 68
 primary_id: OMIM:618201


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developmental and epileptic encephalopathy 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 OMIM
ClinVar		 PMID:25741868 PMID:28364549 PMID:28492532 PMID:28940097 PMID:29846532 NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      electroclinical syndrome 1351
        developmental and epileptic encephalopathy 976
          developmental and epileptic encephalopathy 68 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                neonatal period electroclinical syndrome 950
                  early infantile epileptic encephalopathy 929
                    developmental and epileptic encephalopathy 68 1
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