Version: 8.0.0
Date: Tue Jan 28 2025
Peutz-Jeghers syndrome
DOID:3852
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Peutz-Jeghers syndrome

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
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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