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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 60
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Accession:DOID:0080432 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. (DO)
Synonyms:exact_synonym: DEE60;   EIEE60;   early infantile epileptic encephalopathy 60
 primary_id: OMIM:617929

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developmental and epileptic encephalopathy 60 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 OMIM
ClinVar		 PMID:25741868 PMID:25741895 PMID:29394991 NCBI chrNW_004955437:8,930,883...8,939,869
Ensembl chrNW_004955437:8,930,885...8,939,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      electroclinical syndrome 1237
        developmental and epileptic encephalopathy 892
          developmental and epileptic encephalopathy 60 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            epilepsy 2595
              electroclinical syndrome 1237
                neonatal period electroclinical syndrome 868
                  early infantile epileptic encephalopathy 848
                    developmental and epileptic encephalopathy 60 1
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