| umls-concept:C0031269 | skos:definition | MSH: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.,NCI: A genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having Peutz-Jeghers syndrome increases the risk of developing gastrointestinal and many other types of cancer.,NCI: An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome. --2004 | lld:umls |
