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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:familial adenomatous polyposis 3
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Accession:DOID:0080411 term browser browse the term
Definition:An autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. (OMIM)
Synonyms:exact_synonym: FAP3
 primary_id: OMIM:616415
For additional species annotation, visit the Alliance of Genome Resources.


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familial adenomatous polyposis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 3 OMIM
ClinVar
PMID:12144783, PMID:18515411, PMID:20054297, PMID:25741868, PMID:25938944, PMID:26431160, PMID:26559593, PMID:26649986, PMID:27713038, PMID:27720914, PMID:28492532, PMID:30311386, PMID:30552997, PMID:31285513 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Hereditary Neoplastic Syndromes 815
        familial adenomatous polyposis 38
          familial adenomatous polyposis 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        Digestive System Neoplasms 1908
          Gastrointestinal Neoplasms 1768
            Intestinal Neoplasms 690
              Colorectal Neoplasms 669
                familial adenomatous polyposis 38
                  familial adenomatous polyposis 3 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.