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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:dysembryoplastic neuroepithelial tumor
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Accession:DOID:2679 term browser browse the term
Definition:A rare brain tumor that occurs in children and is characterized by long-standing, intractable partial complex seizures.
Synonyms:exact_synonym: DNET;   DNT;   dysembryoplastic neuroepithelial neoplasm;   dysembryoplastic neuroepithelial tumour
 xref: EFO:0005551;   GARD:10640;   ICDO:9413/0;   MONDO:0005505;   NCI:C9505
For additional species annotation, visit the Alliance of Genome Resources.


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dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of cellular proliferation 7888
      Neoplasms by Histologic Type 5345
        cell type cancer 3782
          high grade glioma 636
            dysembryoplastic neuroepithelial tumor 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          Central Nervous System Neoplasms 1381
            central nervous system cancer 732
              brain cancer 715
                high grade glioma 636
                  dysembryoplastic neuroepithelial tumor 1
paths to the root