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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: Developmental and epileptic encephalopathy, 59 OMIM
ClinVar
PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 More... NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    syndrome 9625
      electroclinical syndrome 925
        developmental and epileptic encephalopathy 738
          developmental and epileptic encephalopathy 59 1
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        central nervous system disease 11278
          brain disease 10564
            epilepsy 2588
              electroclinical syndrome 925
                neonatal period electroclinical syndrome 737
                  early infantile epileptic encephalopathy 717
                    developmental and epileptic encephalopathy 59 1
paths to the root