{"orpha":726050,"name":"Congenital amegakaryocytic thrombocytopenia-THPO","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CAMT-THPO","Congenital amegakaryocytic thrombocytopenia due to THPO deficiency","Congenital amegakaryocytic thrombocytopenia due to thrombopoietin deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726050/","orphanet_url":"https://www.orpha.net/en/disease/detail/726050","names":{"fr":{"name":"Thrombocytopénie amégacaryocytaire congénitale-THPO","synonyms":["CAMT-THPO","Thrombocytopénie amégacaryocytaire congénitale par déficit en thrombopoïétine","Thrombocytopénie amégacaryocytaire congénitale par déficit en THPO"]},"de":{"name":"Kongenitale amegakaryozytäre Thrombozytopenie, THPO-assoziierte","synonyms":["CAMT2","Angeborene amegakaryozytäre Thrombozytopenie durch THPO-Defizienz","Thrombozytopenie, amegakaryozytäre, kongenitale, Typ 2"]},"es":{"name":"Trombocitopenia amegacariocítica congénita por deficiencia de trombopoyetina","synonyms":["TAC-TPO","Trombocitopenia amegacariocítica congénita por deficiencia de TPO"]},"it":{"name":"Trombocitopenia amegacariocitica congenita-THPO","synonyms":["CAMT-THPO","Trombocitopenia amegacariocitica congenita da deficit di THPO","Trombocitopenia amegacariocitica congenita da deficit di trombopoietina"]},"nl":{"name":"Congenitale amegakaryocytaire trombocytopenie-THPO","synonyms":["CAMT-THPO","Congenitale amegakaryocytaire trombocytopenie door THPO-deficiëntie","Congenitale amegakaryocytaire trombocytopenie door deficiëntie van trombopoëtine"]},"pt":{"name":"Congenital amegakaryocytic thrombocytopenia-THPO"},"pl":{"name":"Congenital amegakaryocytic thrombocytopenia-THPO","synonyms":["CAMT-THPO","Congenital amegakaryocytic thrombocytopenia due to THPO deficiency","Congenital amegakaryocytic thrombocytopenia due to thrombopoietin deficiency"]},"cs":{"name":"Congenital amegakaryocytic thrombocytopenia-THPO","synonyms":["CAMT-THPO","Congenital amegakaryocytic thrombocytopenia due to THPO deficiency","Congenital amegakaryocytic thrombocytopenia due to thrombopoietin deficiency"]}},"xrefs":[{"source":"OMIM","code":"620481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":3319,"name":"Congenital amegakaryocytic thrombocytopenia","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"THPO","name":"thrombopoietin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29191945[PMID]","hgnc":"11795","ensembl":"ENSG00000090534","omim":"600044","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}