FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Peutz-Jeghers syndrome ID (Ontology) DOID:3852 (Human Disease)
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.
Also Known As "Colonic hamartomatous polyp" ; "gastric Peutz-Jeghers polyp" ; "Peutz Jeghers colon polyp" (for all, see Synonyms field below)
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 Genes
 Peutz-Jeghers syndrome       1
 for disease ribbon | Peutz-Jeghers syndrome       1
 model of | Peutz-Jeghers syndrome       1
Spanning Tree (Parents/Children)
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  gastrointestinal system disease
   |__intestinal disease
       |__Peutz-Jeghers syndrome  1 rec.
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Is a intestinal disease
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Synonyms
  • "Colonic hamartomatous polyp" EXACT
    "gastric Peutz-Jeghers polyp" EXACT
    "Peutz Jeghers colon polyp" EXACT
    "Peutz Jeghers polyp" EXACT
    "Peutz-Jeghers polyp of small Intestine" EXACT
    "peutz-jeghers small bowel hamartoma" EXACT
Secondary IDs
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GARD:7378
ICD10CM:Q85.89
MESH:D010580
MIM:175200
NCI:C3324
NCI:C4733
NCI:C7755
ORDO:2869
SNOMEDCT_US_2023_03_01:157029009
SNOMEDCT_US_2023_03_01:277161008
SNOMEDCT_US_2023_03_01:53633000
UMLS_CUI:C0031269
UMLS_CUI:C0265323
UMLS_CUI:C0456487