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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:high grade ependymoma
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Accession:DOID:5074 term browser browse the term
Definition:A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. (DO)
Synonyms:exact_synonym: ependymal neoplasm;   ependymal tumors;   malignant ependymoma
 xref: NCI:C6770
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
high grade ependymoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Malignant ependymoma ClinVar PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Malignant ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult spinal cord ependymoma ClinVar NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755 		JBrowse link
anaplastic ependymoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      cancer 5508
        cell type cancer 3761
          carcinoma 3202
            high grade ependymoma 4
              anaplastic ependymoma 3
              brain stem ependymoma 0
              childhood ependymoma 0
              malignant adult ependymoma 0
              posterior fossa ependymoma + 0
              spinal cord ependymoma + 1
              supratentorial ependymoma + 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Site 7143
        Nervous System Neoplasms 1648
          Central Nervous System Neoplasms 1445
            Brain Neoplasms 1396
              Supratentorial Neoplasms 509
                supratentorial cancer 509
                  cerebrum cancer 456
                    cerebral ventricle cancer 9
                      high grade ependymoma 4
                        anaplastic ependymoma 3
                        brain stem ependymoma 0
                        childhood ependymoma 0
                        malignant adult ependymoma 0
                        posterior fossa ependymoma + 0
                        spinal cord ependymoma + 1
                        supratentorial ependymoma + 0
paths to the root