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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:chordoma
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Accession:DOID:3302 term browser browse the term
Definition:A notochordal cancer that derives_from cellular remnants of the notochord. (DO)
Synonyms:exact_synonym: CHDM;   chordomas;   notochordoma
 related_synonym: chordoma, susceptibility to
 primary_id: MESH:D002817
 alt_id: OMIM:215400
 xref: EFO:0000334;   GARD:1303;   MONDO:0008978;   NCI:C2947;   ORDO:178
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
chordoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Chordoma ClinVar PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Chordoma ClinVar NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Chordoma ClinVar PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 More... NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781 		JBrowse link
G Tbxt T-box transcription factor T ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801981 PMID:23064415 NCBI chrNW_004955439:15,675,680...15,683,542
Ensembl chrNW_004955439:15,676,095...15,683,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      Neoplasms by Histologic Type 4641
        Germ Cell and Embryonal Neoplasms 484
          chordoma 4
            chondroid chordoma + 0
            poorly differentiated chordoma 0
            skull base chordoma + 0
            spinal chordoma + 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      cancer 4847
        organ system cancer 4630
          musculoskeletal system cancer 745
            connective tissue cancer 724
              bone cancer 678
                notochordal cancer 4
                  chordoma 4
                    chondroid chordoma + 0
                    poorly differentiated chordoma 0
                    skull base chordoma + 0
                    spinal chordoma + 0
paths to the root