{"orpha":370127,"name":"Medich giant platelet syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Medich macrothrombocytopenia"],"definition":"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370127/","orphanet_url":"https://www.orpha.net/en/disease/detail/370127","names":{"fr":{"name":"Macrothrombocytopénie de Medich","definition":"Anomalies des granules plaquettaires caractérisée par une thrombocytopénie avec des plaquettes géantes à l'origine d'une tendance aux saignements."},"de":{"name":"Medich Giant-Platelet-Syndrom","synonyms":["Macrothrombocytopenia Medich"]},"es":{"name":"Síndrome de plaquetas gigantes de Medich","synonyms":["Macrotrombocitopenia de Medich"],"definition":"Es un trastorno de los gránulos plaquetarios caracterizado por trombocitopenia con plaquetas gigantes que provocan sangrado fácil."},"it":{"name":"Sindrome delle piastrine giganti di Medich","synonyms":["Macrotrombocitopenia di Medich"]},"nl":{"name":"Reuzenbloedplaatjessyndroom, Medich-type","synonyms":["Macrotrombocytopenie van Medich","Reuzentrombocytensyndroom van Medich"],"definition":"Medich reuzenbloedplaatjessyndroom (MGPS) is een stoornis van de bloedplaatjesgranules die gekenmerkt wordt door trombocytopenie met reuzenbloedplaatjes die resulteert in gemakkelijk bloeden."},"pt":{"name":"Síndrome de plaquetas gigantesMedich"},"pl":{"name":"Zespół olbrzymich płytek Medicha","synonyms":["Makrotrombocytopenia Medicha"]},"cs":{"name":"Medichův syndrom obrovských destiček","synonyms":["Medichova makrotrombocytopenie"]},"uk":{"name":"Синдром гігантських тромбоцитів Медіча","synonyms":["Макротромбоцитопенія Медича"],"definition":"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding."},"zh":{"name":"巨大血小板综合征","synonyms":["Medich巨血小板减少症"],"definition":"Medich巨大血小板综合征(MGPS)是一种血小板颗粒疾病，其特征是血小板减少伴巨大血小板，导致易出血。"},"tr":{"name":"Medich dev trombosit sendromu","synonyms":["Medich makrotrombositopeni"]}},"xrefs":[{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018268","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305375","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98455,"name":"Alpha granule disease","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22931192[PMID]_15370096[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}