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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:mismatch repair cancer syndrome
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Accession:DOID:0112182 term browser browse the term
Definition:A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. (DO)
Synonyms:exact_synonym: CMMR-D syndrome;   CMMRDS;   CNS tumors with Familial polyposis of the colon;   CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME;   MMR deficiency;   MMRCS;   Turcot syndrome;   childhood cancer syndrome;   mismatch repair cancer syndromes;   mismatch repair deficiency
 primary_id: MESH:C536928
 xref: NCI:C3938;   OMIM:PS276300;   ORDO:252202


show annotations for term's descendants           Sort by:
mismatch repair cancer syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Aste1 asteroid homolog 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 9:105,272,533...105,285,497
Ensembl chr 9:105,272,591...105,289,428 		JBrowse link
G Mlh1 mutL homolog 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MMR DEFICIENCY		 CTD
ClinVar		 PMID:8872463 PMID:9377556 PMID:9927033 PMID:10422993 PMID:10713887 More... NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: MMR DEFICIENCY ClinVar PMID:6096739 PMID:8566964 PMID:8592341 PMID:9288790 PMID:10080150 More... NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: CHILDHOOD CANCER SYNDROME | ClinVar Annotator: match by term: MMR DEFICIENCY ClinVar PMID:2968408 PMID:4728327 PMID:10508506 PMID:10537275 PMID:10612827 More... NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MMR DEFICIENCY
ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome		 CTD
ClinVar		 PMID:2440087 PMID:6144131 PMID:7628019 PMID:7629132 PMID:7632227 More... NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
G Pole polymerase (DNA directed), epsilon ISO DNA:SNP:CDS:rs4077170 (human) RGD PMID:28218421 RGD:153297765 NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340 		JBrowse link
G Rnaset2a ribonuclease T2A ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr17:8,347,412...8,367,078
Ensembl chr17:8,334,277...8,366,929 		JBrowse link
G Slc22a19 solute carrier family 22 (organic anion transporter), member 19 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr19:7,650,440...7,688,675
Ensembl chr19:7,650,426...7,688,675 		JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I, B ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr12:24,548,580...24,608,570
Ensembl chr12:24,548,358...24,608,538 		JBrowse link
G Tfdp1 transcription factor Dp 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 8:13,388,273...13,428,448
Ensembl chr 8:13,388,751...13,428,448 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Trp53 transformation related protein 53 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
Mismatch Repair Cancer Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1
ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1		 OMIM
ClinVar		 PMID:7757073 PMID:8808596 PMID:8809606 PMID:8872463 PMID:8880570 More... NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 ClinVar PMID:6096739 PMID:8261515 PMID:8566964 PMID:8592341 PMID:9288790 More... NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 ClinVar PMID:2968408 PMID:4728327 PMID:10508506 PMID:10537275 PMID:10612827 More... NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 ClinVar PMID:2440087 PMID:2648339 PMID:6144131 PMID:7628019 PMID:7629132 More... NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
Mismatch Repair Cancer Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2 OMIM
ClinVar		 PMID:8521394 PMID:8700523 PMID:9259192 PMID:9718327 PMID:10190329 More... NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
Mismatch Repair Cancer Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3 OMIM
ClinVar		 PMID:2059188 PMID:5559809 PMID:9307272 PMID:9929971 PMID:10471527 More... NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
Mismatch Repair Cancer Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 | ClinVar Annotator: match by term: PMS2-related condition OMIM
ClinVar		 PMID:2440087 PMID:7628019 PMID:7629132 PMID:7632227 PMID:7661930 More... NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of cellular proliferation 7517
      Hereditary Neoplastic Syndromes 1287
        mismatch repair cancer syndrome 13
          Mismatch Repair Cancer Syndrome 1 4
          Mismatch Repair Cancer Syndrome 2 1
          Mismatch Repair Cancer Syndrome 3 1
          Mismatch Repair Cancer Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16109
    Developmental Disease 13808
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12832
        genetic disease 12481
          monogenic disease 10416
            autosomal genetic disease 9594
              autosomal recessive disease 6679
                mismatch repair cancer syndrome 13
                  Mismatch Repair Cancer Syndrome 1 4
                  Mismatch Repair Cancer Syndrome 2 1
                  Mismatch Repair Cancer Syndrome 3 1
                  Mismatch Repair Cancer Syndrome 4 1
paths to the root