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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 1
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Accession:DOID:9003892 term browser browse the term
Synonyms:exact_synonym: BTP1 syndrome;   BTPS1;   MMRCS1;   brain tumor-polyposis syndrome 1
 broad_synonym: MLH1-RELATED CONDITION
 primary_id: OMIM:276300


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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 OMIM
ClinVar		 PMID:7757073 PMID:08808596 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
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
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
paths to the root