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DO Term : Peutz-Jeghers syndrome [DOID:3852] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • UMLS_CUI:C0456487,
  • NCI:C4733,
  • DOID:4134,
  • Colonic hamartomatous polyp,
  • DOID:6253,
  • DOID:6252,
  • UMLS_CUI:C0031269,
  • NCI:C7755,
  • ICD10CM:Q85.89,
  • 175200,
  • SNOMEDCT_US_2023_03_01:277161008,
  • SNOMEDCT_US_2023_03_01:157029009,
  • Peutz-Jeghers polyp of small Intestine,
  • UMLS_CUI:C0265323,
  • MESH:D010580,
  • GARD:7378,
  • Peutz Jeghers colon polyp,
  • gastric Peutz-Jeghers polyp,
  • DOID:4133,
  • SNOMEDCT_US_2023_03_01:53633000,
  • peutz-jeghers small bowel hamartoma,
  • Peutz Jeghers polyp,
  • ORDO:2869,
  • NCI:C3324,
  • OMIM:175200
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