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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 16085
    syndrome 7041
      Hereditary Neoplastic Syndromes 811
        familial adenomatous polyposis 37
          familial adenomatous polyposis 3 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      gastrointestinal system disease 4643
        Digestive System Neoplasms 1915
          Gastrointestinal Neoplasms 1774
            Intestinal Neoplasms 694
              Colorectal Neoplasms 673
                familial adenomatous polyposis 37
                  familial adenomatous polyposis 3 1
paths to the root