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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 4
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Accession:DOID:0080412 term browser browse the term
Definition:A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. (DO)
Synonyms:exact_synonym: FAP4;   MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS
 broad_synonym: MSH3-RELATED CONDITION
 primary_id: OMIM:617100


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familial adenomatous polyposis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 4 ClinVar PMID:20154325 PMID:25741868 PMID:26467025 PMID:27476653 PMID:28492532 More... NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis OMIM
ClinVar		 PMID:8782829 PMID:9536098 PMID:11470537 PMID:16199547 PMID:17576681 More... NCBI chr 2:23,444,326...23,585,777 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Hereditary Neoplastic Syndromes 1284
        familial adenomatous polyposis 402
          familial adenomatous polyposis 4 2
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
                  familial adenomatous polyposis 4 2
paths to the root