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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:Sessile Serrated Polyposis Cancer Syndrome
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Accession:DOID:9001231 term browser browse the term
Definition:A rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. (OMIM)
Synonyms:exact_synonym: RNF43-RELATED CONDITION;   SSPCS
 primary_id: OMIM:617108


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Sessile Serrated Polyposis Cancer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf43 ring finger protein 43 ISO DNA:nonsense mutation:CDS:p.R113X (human)
ClinVar Annotator: match by term: RNF43-related condition | ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome		 OMIM
ClinVar
RGD		 PMID:22552244 PMID:24512911 PMID:25741868 PMID:27081527 PMID:27582512 More... RGD:11552863 NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Sessile Serrated Polyposis Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Site 7143
        Digestive System Neoplasms 3837
          Gastrointestinal Neoplasms 3712
            Intestinal Neoplasms 1811
              Colorectal Neoplasms 1792
                familial adenomatous polyposis 402
                  Sessile Serrated Polyposis Cancer Syndrome 1
paths to the root