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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;   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 18969
    disease of cellular proliferation 7692
      Neoplasms by Histologic Type 5288
        cell type cancer 3760
          high grade glioma 703
            dysembryoplastic neuroepithelial tumor 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          Central Nervous System Neoplasms 1445
            central nervous system cancer 799
              brain cancer 783
                high grade glioma 703
                  dysembryoplastic neuroepithelial tumor 1
paths to the root