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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 4
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Accession:DOID:0070275 term browser browse the term
Definition:A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. (DO)
Synonyms:exact_synonym: HNPCC4;   LYNCH SYNDROME 4;   LYNCH4
 broad_synonym: PMS2-RELATED CONDITION
 primary_id: MESH:C563971
 alt_id: OMIM:614337;   RDO:0013082


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hereditary nonpolyposis colorectal cancer type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: Lynch syndrome 4		 OMIM
CTD
ClinVar		 PMID:187425 PMID:216319 PMID:285143 PMID:572224 PMID:663563 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lynch syndrome 4 ClinVar PMID:7795591 PMID:12541220 PMID:14722923 PMID:15884040 PMID:16199547 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      Hereditary Neoplastic Syndromes 1279
        Lynch syndrome 105
          hereditary nonpolyposis colorectal cancer type 4 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                Lynch syndrome 105
                  hereditary nonpolyposis colorectal cancer type 4 2
paths to the root