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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 17
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Accession:DOID:0080450 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: DEE17;   EIEE17;   early infantile epileptic encephalopathy 17
 primary_id: OMIM:615473
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by OMIM:615473
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17
OMIM
ClinVar
PMID:18414213 PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 More... NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 17 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            epilepsy 2154
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 536
                  early infantile epileptic encephalopathy 519
                    developmental and epileptic encephalopathy 17 1
paths to the root