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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: SSPCS
 primary_id: OMIM:617108;   RDO:9001277
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome ClinVar
OMIM
PMID:22552244, PMID:24512911, PMID:27081527 NCBI chr10:74,956,411...75,028,951
Ensembl chr10:74,959,285...75,028,951
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Sessile Serrated Polyposis Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        Gastrointestinal Diseases 2541
          intestinal disease 1503
            colonic disease 1016
              Colorectal Neoplasms 668
                familial adenomatous polyposis 38
                  Sessile Serrated Polyposis Cancer Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.