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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
 broad_synonym: GNAO1-RELATED CONDITION
 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 term: Developmental and epileptic encephalopathy, 17 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 OMIM
ClinVar
PMID:18414213 PMID:23993195 PMID:25356970 PMID:25533962 PMID:25741868 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 18156
    syndrome 9705
      electroclinical syndrome 976
        developmental and epileptic encephalopathy 745
          developmental and epileptic encephalopathy 17 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            epilepsy 2644
              electroclinical syndrome 976
                neonatal period electroclinical syndrome 740
                  early infantile epileptic encephalopathy 720
                    developmental and epileptic encephalopathy 17 1
paths to the root