# OnCo record bloom-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/bloom-syndrome/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "bloom-syndrome" ;
  schema:name "Bloom syndrome"@en ;
  schema:alternateName "BLM syndrome"@en ;
  schema:description "Bloom syndrome is a rare inherited condition, caused by two faulty copies of the BLM gene, that causes small stature, a sun-sensitive facial rash and a high risk of many cancers from childhood. Colonoscopy from age 10 to 12, sun protection and care at a specialist centre are recommended, and cancer treatment has to be adapted."@en ;
  schema:url <https://onco.cc/terms/bloom-syndrome/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Bloom_syndrome> ;
  schema:citation <https://doi.org/10.1158/1078-0432.ccr-24-1098>, <https://www.orpha.net/en/disease/detail/125>, <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/colorectal/>, <https://onco.cc/cancers/all-leukemia/>, <https://onco.cc/cancers/aml/> ;
  onco:technologies <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/blm/> ;
  onco:terms <https://onco.cc/terms/colonoscopy/>, <https://onco.cc/terms/hereditary-cancer-syndromes/> .
