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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:hereditary nonpolyposis colorectal cancer type 5
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Accession:DOID:0070272 term browser browse the term
Definition:A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. (DO)
Synonyms:exact_synonym: HNPCC5;   hereditary nonpolyposis colon cancer type 5
 primary_id: MESH:C563456
 alt_id: OMIM:614350;   RDO:0012705


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hereditary nonpolyposis colorectal cancer type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:19250818 PMID:24689082 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:49,838,003...49,864,211
Ensembl chr10:49,838,776...49,925,064 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 OMIM
ClinVar		 PMID:183784 PMID:183865 PMID:277857 PMID:551112 PMID:580251 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 ClinVar PMID:17016615 PMID:20186688 PMID:22290698 PMID:25741868 PMID:25980754 More... NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of cellular proliferation 7264
      Hereditary Neoplastic Syndromes 1239
        Lynch syndrome 99
          hereditary nonpolyposis colorectal cancer type 5 3
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          monogenic disease 10125
            autosomal genetic disease 9332
              autosomal dominant disease 6137
                Lynch syndrome 99
                  hereditary nonpolyposis colorectal cancer type 5 3
paths to the root