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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:cerebral ventricle cancer
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Accession:DOID:3541 term browser browse the term
Definition:A cerebrum cancer that is located_in the cerebral ventricles. (DO)
Synonyms:exact_synonym: Intraventricular tumor of brain;   cerebral ventricle neoplasm
 primary_id: RDO:9004641
 xref: GARD:6025;   ICD10CM:C71.5;   ICD9CM:191.5;   NCI:C2937
For additional species annotation, visit the Alliance of Genome Resources.


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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:25741868 PMID:26315354 PMID:26467025 PMID:26580448 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:25741868 PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
choroid plexus carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
third ventricle chordoid glioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkca protein kinase C, alpha ISO DNA:mutation:cds:c.1387G>C,p.D463H(human) RGD PMID:29476136 RGD:13782058 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of cellular proliferation 7036
      cancer 4991
        organ system cancer 4823
          nervous system cancer 1061
            central nervous system cancer 735
              brain cancer 702
                supratentorial cancer 441
                  cerebrum cancer 389
                    cerebral ventricle cancer 9
                      central neurocytoma 0
                      choroid plexus cancer + 4
                      high grade ependymoma + 4
                      intraventricular meningioma + 0
                      third ventricle chordoid glioma 1
paths to the root