{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","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-477794/","orphanet_url":"https://www.orpha.net/en/disease/detail/477794","names":{"fr":{"name":"Thrombocytopénie constitutionnelle syndromique"},"de":{"name":"Konstitutionelle Thrombozytopenie, syndromale"},"es":{"name":"Trombocitopenia constitucional sindrómica"},"it":{"name":"Trombocitopenia costituzionale sindromica"},"nl":{"name":"Syndromale constitutionele trombocytopenie"},"pt":{"name":"Trombocitopenia constitucional sindromática"},"pl":{"name":"Syndromiczna małopłytkowość konstytucyjna"},"cs":{"name":"Syndromická konstituční trombocytopenie"},"uk":{"name":"Синдромна конституціональна тромбоцитопенія"},"zh":{"name":"综合征性全身性血小板减少"},"tr":{"name":"Sendromik yapısal trombositopeni"}},"xrefs":[{"source":"MONDO","code":"0018795","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18795","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275729,"name":"Rare hemorrhagic disorder due to a constitutional thrombocytopenia","classifications":[156,194]}],"children":[{"orpha":261323,"name":"21q22.11q22.12 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":674653,"name":"Actinomyopathy-associated syndromic thrombocytopenia","type":"Disease"},{"orpha":734,"name":"Alpha delta granule deficiency","type":"Disease"},{"orpha":728467,"name":"Congenital macrothrombocytopenia with focal myelofibrosis","type":"Disease"},{"orpha":714493,"name":"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency","type":"Disease"},{"orpha":494444,"name":"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","type":"Disease"},{"orpha":98456,"name":"Dense granule disease","type":"Category"},{"orpha":602,"name":"GNE myopathy","type":"Disease"},{"orpha":480851,"name":"Hereditary thrombocytopenia with early-onset myelofibrosis","type":"Disease"},{"orpha":714496,"name":"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome","type":"Disease"},{"orpha":2308,"name":"Jacobsen syndrome","type":"Malformation syndrome"},{"orpha":182050,"name":"MYH9-related syndromic thrombocytopenia","type":"Disease"},{"orpha":220448,"name":"Macrothrombocytopenia with mitral valve insufficiency","type":"Disease"},{"orpha":652522,"name":"Periodic fever-immunodeficiency-thrombocytopenia syndrome","type":"Disease"},{"orpha":71289,"name":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","type":"Malformation syndrome"},{"orpha":3204,"name":"Stormorken-Sjaastad-Langslet syndrome","type":"Disease"},{"orpha":487796,"name":"Takenouchi-Kosaki syndrome","type":"Malformation syndrome"},{"orpha":3320,"name":"Thrombocytopenia-absent radius syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}