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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
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:25741868 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 16909
    syndrome 7568
      Sessile Serrated Polyposis Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      gastrointestinal system disease 4715
        Gastrointestinal Diseases 2647
          intestinal disease 1604
            rectal disease 888
              Colorectal Neoplasms 694
                familial adenomatous polyposis 36
                  Sessile Serrated Polyposis Cancer Syndrome 1
paths to the root