# OnCo record dyskeratosis-congenita (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/dyskeratosis-congenita/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "dyskeratosis-congenita" ;
  schema:name "Dyskeratosis congenita and telomere biology disorders"@en ;
  schema:alternateName "telomere biology disorder"@en, "telomere biology disorders"@en, "short telomere syndrome"@en ;
  schema:description "Dyskeratosis congenita and the related telomere biology disorders are inherited conditions in which the protective ends of chromosomes are too short, causing bone marrow failure and a raised risk of leukaemia and of mouth and throat cancers. Regular blood counts, marrow checks and yearly mouth and throat examinations from age ten are recommended."@en ;
  schema:url <https://onco.cc/terms/dyskeratosis-congenita/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Dyskeratosis_congenita> ;
  schema:citation <https://doi.org/10.1158/1078-0432.ccr-24-1098>, <https://doi.org/10.1158/1078-0432.ccr-24-0685>, <https://www.orpha.net/en/disease/detail/1775> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:related <https://onco.cc/terms/germline-myeloid-predisposition/> ;
  onco:cancers <https://onco.cc/cancers/mds/>, <https://onco.cc/cancers/aml/>, <https://onco.cc/cancers/head-and-neck/> ;
  onco:technologies <https://onco.cc/technologies/allogeneic-hsct/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/tert/> ;
  onco:terms <https://onco.cc/terms/hereditary-cancer-syndromes/> .