Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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: OMIM:618008
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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
PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 More... NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
JBrowse link

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 65 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 65 1
paths to the root