# OnCo record shwachman-diamond-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/shwachman-diamond-syndrome/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "shwachman-diamond-syndrome" ;
  schema:name "Shwachman-Diamond syndrome"@en ;
  schema:alternateName "SBDS deficiency"@en ;
  schema:description "Shwachman-Diamond syndrome is a rare inherited condition, usually caused by two faulty copies of the SBDS gene, that affects the pancreas, bones and bone marrow and raises the risk of myelodysplastic syndrome and leukaemia. Blood counts every three to four months and yearly marrow checks look for changes that would make a stem cell transplant the right step."@en ;
  schema:url <https://onco.cc/terms/shwachman-diamond-syndrome/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/Shwachman–Diamond_syndrome> ;
  schema:citation <https://doi.org/10.1158/1078-0432.ccr-24-0685>, <https://www.orpha.net/en/disease/detail/811> ;
  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/> ;
  onco:technologies <https://onco.cc/technologies/allogeneic-hsct/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/sbds/> ;
  onco:terms <https://onco.cc/terms/pancreatic-enzyme-replacement/>, <https://onco.cc/terms/hereditary-cancer-syndromes/> .