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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 94
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Accession:DOID:0081325 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: CHD2-related disorder;   DEE94
 primary_id: OMIM:615369
 alt_id: DOID:9001359
 xref: EFO:0020000


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developmental and epileptic encephalopathy 94 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 OMIM
ClinVar		 PMID:9536098 PMID:15955779 PMID:15988005 PMID:16199547 PMID:17576681 More... NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 ClinVar PMID:25741868 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 982
          developmental and epileptic encephalopathy 94 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              electroclinical syndrome 1357
                developmental and epileptic encephalopathy 982
                  developmental and epileptic encephalopathy 94 2
paths to the root