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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 110
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Accession:DOID:0070395 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: CACNA2D1-RELATED CONDITION;   DEE110;   early infantile epileptic encephalopathy 110
 primary_id: MIM:620149
 alt_id: DOID:9005910


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developmental and epileptic encephalopathy 110 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: CACNA2D1-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 110 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30847666 PMID:35293990 NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      electroclinical syndrome 1524
        developmental and epileptic encephalopathy 1145
          developmental and epileptic encephalopathy 110 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              electroclinical syndrome 1524
                developmental and epileptic encephalopathy 1145
                  developmental and epileptic encephalopathy 110 1
paths to the root