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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:Ependymomas
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Accession:DOID:9005834 term browser browse the term
Definition:Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)
Synonyms:exact_synonym: ependymal neoplasm;   ependymal tumor;   ependymoma
 primary_id: MESH:D004806
 xref: EFO:1000027;   EFO:1000028;   NCI:C21951


show annotations for term's descendants           Sort by:
Ependymomas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c B cell CLL/lymphoma 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,260,626...127,307,938
Ensembl chr 7:127,260,628...127,308,105 		JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323 		JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		JBrowse link
G Shc3 src homology 2 domain-containing transforming protein C3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr13:51,577,422...51,724,909
Ensembl chr13:51,585,077...51,723,523 		JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000 		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 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995 		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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr11:119,280,778...119,378,245
Ensembl chr11:119,283,926...119,378,244 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Malignant ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
subependymal giant cell astrocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of cellular proliferation 7493
      cancer 5429
        cell type cancer 3732
          high grade glioma 674
            Ependymomas 13
              benign ependymoma + 1
              high grade ependymoma + 4
              subependymal glioma + 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          Central Nervous System Neoplasms 1398
            Brain Neoplasms 1349
              brain cancer 731
                high grade glioma 674
                  Ependymomas 13
                    benign ependymoma + 1
                    high grade ependymoma + 4
                    subependymal glioma + 1
paths to the root