{"orpha":220452,"name":"Isolated hereditary giant platelet disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Isolated hereditary macrothrombocytopenia","Isolated inherited giant platelet disorder","Isolated inherited macrothrombocytopenia"],"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-220452/","orphanet_url":"https://www.orpha.net/en/disease/detail/220452","names":{"fr":{"name":"Macrothrombocytopénie héréditaire isolée"},"de":{"name":"Giant-Platelet-Syndrom, isoliertes hereditäres","synonyms":["Makrothrombozytopenie, isolierte hereditäre"]},"es":{"name":"Trastorno aislado hereditario de las plaquetas gigantes","synonyms":["Macrotrombocitopenia heredada aislada","Macrotrombocitopenia hereditaria aislada"]},"it":{"name":"Disturbo ereditario delle piastrine giganti","synonyms":["Macrotrombocitopenia ereditaria"]},"nl":{"name":"Geïsoleerde erfelijke reuzenbloedplaatjesstoornis","synonyms":["Geïsoleerde erfelijke macrotrombocytopenie","Geïsoleerde overgeërfde macrotrombocytopenie","Geïsoleerde overgeërfde reuzenbloedplaatjesstoornis"]},"pt":{"name":"Doença hereditária das plaquetas gigantes"},"pl":{"name":"Izolowane dziedziczne zaburzenie z obecnością płytek olbrzymich","synonyms":["Izolowana wrodzona makrotrombocytopenia","Izolowana dziedziczna makrotrombocytopenia","Izolowane wrodzone zaburzenie z obecnością płytek olbrzymich"]},"cs":{"name":"Vrozená porucha obrovských krevních destiček","synonyms":["Vrozená makrotrombocytopenie"]},"uk":{"name":"Ізольована спадкова гігантська тромбоцитопенія","synonyms":["Ізольована спадкова макротромбоцитопенія","Ізольована спадкова гігантська тромбоцитопенія","Ізольована спадкова макротромбоцитопенія"]},"zh":{"name":"孤立性遗传性巨血小板疾病","synonyms":["孤立性遗传性巨血小板疾病"]},"tr":{"name":"İzole kalıtsal dev trombosit bozukluğu","synonyms":["İzole kalıtsal makrotrombositopeni","İzole kalıtsal makrotrombositopeni","İzole kalıtımsal dev trombosit bozukluğu"]}},"xrefs":[{"source":"ICD-11","code":"3B62.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2069754587"},{"source":"MONDO","code":"16361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679822","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477797,"name":"Isolated constitutional thrombocytopenia","classifications":[156,194]}],"children":[{"orpha":98455,"name":"Alpha granule disease","type":"Category"},{"orpha":140957,"name":"Autosomal dominant macrothrombocytopenia","type":"Disease"},{"orpha":274,"name":"Bernard-Soulier syndrome","type":"Disease"},{"orpha":438207,"name":"Severe autosomal recessive macrothrombocytopenia","type":"Disease"},{"orpha":67044,"name":"Thrombocytopenia with congenital dyserythropoietic anemia","type":"Disease"},{"orpha":363727,"name":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}