# OnCo record rothmund-thomson-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/rothmund-thomson-syndrome/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "rothmund-thomson-syndrome" ;
  schema:name "Rothmund-Thomson syndrome"@en ;
  schema:alternateName "Rothmund-Thomson syndrome type 2"@en, "RECQL4 syndrome"@en ;
  schema:description "Rothmund-Thomson syndrome is a rare inherited condition with a distinctive skin rash called poikiloderma, and its type 2 form, caused by faults in RECQL4, carries a high risk of bone cancer in childhood. Families are taught the signs of bone cancer, and a baseline skeletal survey is done by age five."@en ;
  schema:url <https://onco.cc/terms/rothmund-thomson-syndrome/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Rothmund–Thomson_syndrome> ;
  schema:citation <https://doi.org/10.1158/1078-0432.ccr-24-1098>, <https://www.orpha.net/en/disease/detail/221016> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:cancers <https://onco.cc/cancers/osteosarcoma/> ;
  onco:technologies <https://onco.cc/technologies/whole-body-mri/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/recql4/> ;
  onco:terms <https://onco.cc/terms/hereditary-cancer-syndromes/> .