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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 97
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Accession:DOID:0070383 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. (DO)
Synonyms:exact_synonym: DEE97;   early infantile epileptic encephalopathy 97
 primary_id: OMIM:619561
 alt_id: DOID:9000553


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developmental and epileptic encephalopathy 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 97 OMIM
ClinVar		 PMID:25741868 PMID:33131106 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333 		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 97 1
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 97 1
paths to the root