{"orpha":248401,"name":"Rare thrombotic disorder due to a constitutional platelet anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-248401/","orphanet_url":"https://www.orpha.net/en/disease/detail/248401","names":{"fr":{"name":"Maladie thrombotique rare par anomalie constitutionnelle des plaquettes"},"de":{"name":"Seltene thrombotische Störung durch konstitutionelle Blutplättchenanomalie"},"es":{"name":"Enfermedad trombótica rara por anomalía constitucional de las plaquetas"},"it":{"name":"Disturbo trombotico raro da difetto piastrinico costituzionale"},"nl":{"name":"Zeldzame trombotische stoornis als gevolg van een constitutionele bloedplaatjesanomalie"},"pt":{"name":"Doença trombótica rara por anomalia constitucional das plaquetas"},"pl":{"name":"Rzadkie zaburzenie krzepnięcia z powodu konstytucjonalnej anomalii płytek krwi"},"cs":{"name":"Vzácná trombotická vada z konstituční poruchy destiček"},"uk":{"name":"Рідкісний тромботичний розлад, зумовлений конституційною аномалією тромбоцитів"},"zh":{"name":"先天性血小板异常所致罕见性血栓性疾病"},"tr":{"name":"Yapısal trombosit anomalisine bağlı nadir trombotik bozukluk"}},"xrefs":[{"source":"MONDO","code":"16636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680686","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":183654,"name":"Rare genetic coagulation disorder","classifications":[156]},{"orpha":248368,"name":"Rare thrombotic disorder due to a platelet anomaly","classifications":[194]}],"children":[{"orpha":71493,"name":"Familial thrombocytosis","type":"Disease"},{"orpha":329319,"name":"Thrombocythemia with distal limb defects","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}