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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
 primary_id: OMIM:617100
For additional species annotation, visit the Alliance of Genome Resources.


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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:28492532 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
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G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 4
ClinVar Annotator: match by term: Familial adenomatous polyposis 4
ClinVar
OMIM
PMID:8782829 PMID:21128252 PMID:22179786 PMID:25741868 PMID:27476653 PMID:27712984 PMID:28492532 PMID:28875981 PMID:28944238 NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link

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 4 2
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 4 2
paths to the root