OBO ID: DOID:0112182 |
Term Name: | mismatch repair cancer syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0112182 ) |
OTHER mismatch repair cancer syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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