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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 regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Aste1 asteroid homolog 1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430 		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 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		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 chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Pms2 PMS1 homolog 2, 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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO DNA:SNP:CDS:rs4077170 (human) RGD PMID:28218421 RGD:153297765 NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
G Rnaset2 ribonuclease T2 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147 		JBrowse link
G Slc22a25 solute carrier family 22, member 25 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 1:205,338,698...205,498,486
Ensembl chr 1:205,338,699...205,433,085 		JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 6:41,116,980...41,194,593
Ensembl chr 6:41,117,420...41,194,593 		JBrowse link
G Tfdp1 transcription factor Dp-1 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations:cds: (human) RGD PMID:28218421 RGD:153297765 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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:08808596 PMID:8809606 PMID:8872463 PMID:8880570 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617 		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 chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Pms2 PMS1 homolog 2, 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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		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 chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		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 homolog 2, 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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Hereditary Neoplastic Syndromes 1284
        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 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                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