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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
 primary_id: RDO:9001298
 xref: GARD:10640;   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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of cellular proliferation 5907
      Neoplasms by Histologic Type 3699
        cell type cancer 2575
          high grade glioma 617
            dysembryoplastic neuroepithelial tumor 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          Central Nervous System Neoplasms 1340
            central nervous system cancer 708
              brain cancer 695
                high grade glioma 617
                  dysembryoplastic neuroepithelial tumor 1
paths to the root