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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 69
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Accession:DOID:0112205 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. (DO)
Synonyms:exact_synonym: CACNA1E-RELATED CONDITION;   DEE69;   EIEE69;   early infantile epileptic encephalopathy 69
 primary_id: OMIM:618285


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developmental and epileptic encephalopathy 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: CACNA1E-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 OMIM
ClinVar		 PMID:16199547 PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 More... NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 981
          developmental and epileptic encephalopathy 69 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            epilepsy 2816
              electroclinical syndrome 1357
                neonatal period electroclinical syndrome 952
                  early infantile epileptic encephalopathy 931
                    developmental and epileptic encephalopathy 69 1
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