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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 3
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Accession:DOID:9009145 term browser browse the term
Synonyms:exact_synonym: MMRCS3
 primary_id: MIM:619097

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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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      Hereditary Neoplastic Syndromes 1465
        mismatch repair cancer syndrome 12
          Mismatch Repair Cancer Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          monogenic disease 10479
            autosomal genetic disease 10028
              autosomal recessive disease 6787
                mismatch repair cancer syndrome 12
                  Mismatch Repair Cancer Syndrome 3 1
paths to the root