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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:Oligodontia-Colorectal Cancer Syndrome
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Accession:DOID:9007387 term browser browse the term
Synonyms:exact_synonym: ODCRCS;   Tooth Agenesis-Colorectal Cancer Syndrome
 primary_id: MESH:C563898
 alt_id: OMIM:608615;   RDO:0013033
For additional species annotation, visit the Alliance of Genome Resources.


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Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome
ClinVar Annotator: match by OMIM:608615
OMIM
ClinVar
PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Gna13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Oligodontia-Colorectal Cancer Syndrome 3
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      gastrointestinal system disease 6061
        Digestive System Neoplasms 3429
          Gastrointestinal Neoplasms 3307
            gastrointestinal system cancer 2527
              intestinal cancer 763
                large intestine cancer 760
                  colorectal cancer 760
                    Oligodontia-Colorectal Cancer Syndrome 3
paths to the root