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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: DEE65;   EIEE65;   early infantile epileptic encephalopathy 65
 primary_id: OMIM:618008
For additional species annotation, visit the Alliance of Genome Resources.


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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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65
ClinVar
OMIM
PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 PMID:28492532 PMID:29534297 PMID:29667327 PMID:30664714 NCBI chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 530
          developmental and epileptic encephalopathy 65 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            epilepsy 2151
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 65 1
paths to the root