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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, gastric Peutz-Jeghers polyp, Peutz Jeghers colon polyp, Peutz Jeghers polyp, Peutz-Jeghers polyp of small Intestine, peutz-jeghers small bowel hamartoma
Xenbase Genes
:
stk11
| MONDO:0008280 - Peutz-Jeghers syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
intestinal disease (is_a)