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Summary Literature (0)
DOID:3852 - Peutz-Jeghers syndrome

Disease Ontology 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.

Synonyms: Colonic hamartomatous polyp, Peutz Jeghers colon polyp, Peutz Jeghers polyp, Peutz-Jeghers polyp of small Intestine, gastric Peutz-Jeghers polyp, peutz-jeghers small bowel hamartoma,

Xenbase Genes : stk11

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008280 - Peutz-Jeghers syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): intestinal disease (is_a)