POLD1-related polyposis and colorectal cancer syndrome
An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
MONDO:0000147
polyposis
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MONDO:0018653
Polymerase proofreading-related adenomatous polyposis
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MONDO:0021392
polyp of large intestine
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MONDO:0023113
familial colorectal cancer
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