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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.

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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 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198 		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 2:22,163,836...22,373,098
Ensembl chr 2:22,223,919...22,373,275 		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 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198 		JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr16:72,241,519...72,370,710
Ensembl chr16:72,244,245...72,369,859 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15337
    disease of cellular proliferation 7217
      cancer 5279
        cell type cancer 3622
          carcinoma 3070
            high grade ependymoma 3
              anaplastic ependymoma 2
              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 15337
    disease of cellular proliferation 7217
      Neoplasms by Site 6695
        Nervous System Neoplasms 1558
          Central Nervous System Neoplasms 1389
            Brain Neoplasms 1343
              Supratentorial Neoplasms 476
                supratentorial cancer 476
                  cerebrum cancer 447
                    cerebral ventricle cancer 8
                      high grade ependymoma 3
                        anaplastic ependymoma 2
                        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