Term Name: | Peutz-Jeghers syndrome |
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Synonyms: | Colonic hamartomatous polyp, gastric Peutz-Jeghers polyp, Peutz Jeghers colon polyp, Peutz Jeghers polyp, Peutz-Jeghers polyp of small Intestine, peutz-jeghers small bowel hamartoma |
Definition: | An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:3852] ( DOID:3852 ) |