# OnCo record familial-platelet-disorder-runx1 (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/familial-platelet-disorder-runx1/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "familial-platelet-disorder-runx1" ;
  schema:name "RUNX1 familial platelet disorder with associated myeloid malignancy"@en ;
  schema:alternateName "FPD/AML"@en, "FPDMM"@en, "RUNX1-FPD"@en, "familial platelet disorder with predisposition to myeloid malignancy"@en, "germline RUNX1"@en ;
  schema:description "This is an inherited fault in the RUNX1 gene that causes a low or poorly working platelet count and a lifetime risk of leukaemia estimated at 30 to 40 percent. Regular blood and marrow checks watch for change, and relatives are tested before anyone in the family donates stem cells."@en ;
  schema:url <https://onco.cc/terms/familial-platelet-disorder-runx1/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:citation <https://doi.org/10.1002/rth2.12282>, <https://doi.org/10.1158/1078-0432.ccr-24-0685>, <https://www.orpha.net/en/disease/detail/71290> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:related <https://onco.cc/terms/germline-myeloid-predisposition/> ;
  onco:cancers <https://onco.cc/cancers/aml/>, <https://onco.cc/cancers/mds/> ;
  onco:technologies <https://onco.cc/technologies/allogeneic-hsct/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:targets <https://onco.cc/targets/runx1/> ;
  onco:terms <https://onco.cc/terms/hereditary-cancer-syndromes/> .