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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
For additional species annotation, visit the Alliance of Genome Resources.



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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: Turcot syndrome
CTD
ClinVar
PMID:5713769 PMID:8872463 PMID:8880570 PMID:9377556 PMID:9536098 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: CNS tumors with Familial polyposis of the colon | ClinVar Annotator: match by term: Turcot syndrome ClinVar PMID:8261515 PMID:8566964 PMID:8592341 PMID:9288790 PMID:9748699 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: CNS tumors with Familial polyposis of the colon | ClinVar Annotator: match by term: Turcot syndrome ClinVar PMID:10508506 PMID:10537275 PMID:11807791 PMID:12019211 PMID:15483016 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: Turcot syndrome
CTD
ClinVar
PMID:2440087 PMID:6144131 PMID:7628019 PMID:7629132 PMID:7632227 More... NCBI chr12:10,676,819...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 OMIM
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: MISMATCH REPAIR CANCER SYNDROME 1 ClinVar PMID:8566964 PMID:8592341 PMID:9288790 PMID:10080150 PMID:10323887 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 PMID:11807791 PMID:15483016 PMID:18269114 PMID:18301448 PMID:20028993 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: MISMATCH REPAIR CANCER SYNDROME 1 ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr12:10,676,819...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:10196371 PMID:11809679 PMID:11920650 PMID:12549480 PMID:12658575 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:10508506 PMID:12732731 PMID:15098177 PMID:15340263 PMID:15483016 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 OMIM
ClinVar
PMID:2440087 PMID:7628019 PMID:7629132 PMID:7632227 PMID:7661930 More... NCBI chr12:10,676,819...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 18213
    disease of cellular proliferation 7348
      Hereditary Neoplastic Syndromes 1057
        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 18213
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11803
        genetic disease 11314
          monogenic disease 8883
            autosomal genetic disease 7925
              autosomal recessive disease 4931
                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