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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
 narrow_synonym: AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS
 broad_synonym: AXIN2-RELATED DISORDER
 primary_id: MESH:C563898
 alt_id: MIM:608615;   RDO:0013033



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: AXIN2-related disorder | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
OMIM
CTD
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 19100
    syndrome 11271
      Oligodontia-Colorectal Cancer Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19100
    disease of cellular proliferation 7914
      Neoplasms by Site 7370
        Digestive System Neoplasms 3852
          Gastrointestinal Neoplasms 3728
            Intestinal Neoplasms 1814
              intestinal cancer 1009
                large intestine cancer 1007
                  colorectal cancer 1007
                    Oligodontia-Colorectal Cancer Syndrome 3
paths to the root