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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 59
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Accession:DOID:0080291 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: DEE59;   EIEE59;   early infantile epileptic encephalopathy 59
 primary_id: OMIM:617904
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 59
ClinVar
OMIM
PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 PMID:32860008 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      electroclinical syndrome 698
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 59 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            epilepsy 2152
              electroclinical syndrome 698
                neonatal period electroclinical syndrome 537
                  early infantile epileptic encephalopathy 520
                    developmental and epileptic encephalopathy 59 1
paths to the root