# OnCo record peutz-jeghers-syndrome (term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)". Whole corpus: https://onco.cc/api/v1/onco.nt
@prefix schema: <https://schema.org/> .
@prefix onco: <https://onco.cc/ns#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://onco.cc/terms/peutz-jeghers-syndrome/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "peutz-jeghers-syndrome" ;
  schema:name "Peutz-Jeghers syndrome"@en ;
  schema:alternateName "PJS"@en, "Peutz-Jeghers"@en ;
  schema:description "Peutz-Jeghers syndrome is an inherited condition, caused by a fault in the STK11 gene, that causes freckling of the lips and mouth and polyps in the bowel from childhood, and raises the risk of several cancers in adult life. Checks of the gut start at about eight years old, and removing large polyps prevents the bowel from telescoping into itself."@en ;
  schema:url <https://onco.cc/terms/peutz-jeghers-syndrome/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Peutz–Jeghers_syndrome> ;
  schema:citation <https://doi.org/10.1136/gutjnl-2019-319915>, <https://doi.org/10.1158/1078-0432.ccr-24-0953>, <https://doi.org/10.1136/gutjnl-2019-319352>, <https://www.orpha.net/en/disease/detail/2869>, <https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:cancers <https://onco.cc/cancers/pancreatic/>, <https://onco.cc/cancers/sertoli-cell-tumour/> ;
  onco:technologies <https://onco.cc/technologies/capsule-endoscopy-systems/>, <https://onco.cc/technologies/pancreatic-surveillance/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/stk11/> ;
  onco:terms <https://onco.cc/terms/endoscopy/>, <https://onco.cc/terms/colonoscopy/>, <https://onco.cc/terms/hereditary-cancer-syndromes/> ;
  onco:keyPapers <https://onco.cc/key-papers/paper-caps-consortium-surveillance-recommendations-gut-2020/> .