Send us a Message



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

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 66
go back to main search page
Accession:DOID:0080446 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: DEE66;   EIEE66;   early infantile epileptic encephalopathy 66
 primary_id: OMIM:618067
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
developmental and epileptic encephalopathy 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 ClinVar PMID:25741868 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 NCBI chr 6:137,824,136...137,889,144
Ensembl chr 6:137,824,213...137,887,418
JBrowse link

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 66 2
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 66 2
paths to the root