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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: 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: Developmental and epileptic encephalopathy 110 OMIM
ClinVar		 PMID:25741868 PMID:35293990 NCBI chr18:21,561,091...21,949,970
Ensembl chr18:21,564,676...21,949,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15675
    syndrome 10403
      electroclinical syndrome 1494
        developmental and epileptic encephalopathy 1121
          developmental and epileptic encephalopathy 110 1
Path 2
Term Annotations click to browse term
  disease 15675
    disease of anatomical entity 15318
      nervous system disease 13408
        central nervous system disease 12032
          brain disease 11306
            epilepsy 2956
              electroclinical syndrome 1494
                developmental and epileptic encephalopathy 1121
                  developmental and epileptic encephalopathy 110 1
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