Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 primary_id: OMIM:617100
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 2:23,585,876...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:11470537 PMID:16199547 PMID:20981092 PMID:21128252 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 18156
    syndrome 9705
      Hereditary Neoplastic Syndromes 1055
        familial adenomatous polyposis 404
          familial adenomatous polyposis 4 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of cellular proliferation 7339
      Neoplasms by Site 6969
        Digestive System Neoplasms 3753
          Gastrointestinal Neoplasms 3629
            Intestinal Neoplasms 1749
              Colorectal Neoplasms 1730
                familial adenomatous polyposis 404
                  familial adenomatous polyposis 4 2
paths to the root