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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 65
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Accession:DOID:0080430 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: CYFIP2-RELATED NEURODEVELOPMENTAL DISORDER;   DEE65;   EIEE65;   early infantile epileptic encephalopathy 65
 primary_id: MIM:618008
 xref: NCI:C201518

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developmental and epileptic encephalopathy 65 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 OMIM
ClinVar		 PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 More... NCBI chrNW_004624733:31,996,717...32,115,571
Ensembl chrNW_004624733:31,996,423...32,115,577 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    syndrome 9307
      electroclinical syndrome 1231
        developmental and epileptic encephalopathy 884
          developmental and epileptic encephalopathy 65 1
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      nervous system disease 12061
        central nervous system disease 10821
          brain disease 10153
            epilepsy 2590
              electroclinical syndrome 1231
                neonatal period electroclinical syndrome 859
                  early infantile epileptic encephalopathy 839
                    developmental and epileptic encephalopathy 65 1
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