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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:29394991 NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      electroclinical syndrome 925
        developmental and epileptic encephalopathy 738
          developmental and epileptic encephalopathy 60 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            epilepsy 2588
              electroclinical syndrome 925
                neonatal period electroclinical syndrome 737
                  early infantile epileptic encephalopathy 717
                    developmental and epileptic encephalopathy 60 1
paths to the root