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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;   oligodontia-cancer predisposition syndrome
 narrow_synonym: AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS
 broad_synonym: AXIN2-related disorder
 xref: MESH:C563898;   MIM:608615;   MONDO:0012075


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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: Oligodontia-cancer predisposition syndrome 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Oligodontia-Colorectal Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            mouth disease 896
              tooth disease 314
                Tooth Abnormalities 149
                  tooth agenesis 52
                    anodontia 42
                      Oligodontia-Colorectal Cancer Syndrome 1
paths to the root