{"orpha":98879,"name":"Hemophilia B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital F9 deficiency","Congenital factor IX deficiency","Christmas disease"],"definition":"A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98879/","orphanet_url":"https://www.orpha.net/en/disease/detail/98879","names":{"fr":{"name":"Hémophilie B","synonyms":["Déficit congénital en F9","Déficit congénital en facteur IX","Maladie de Christmas"],"definition":"Maladie hématologique rare caractérisée par des hémorragies spontanées ou prolongées dues à un déficit en facteur IX."},"de":{"name":"Hämophilie B","synonyms":["Angeborener F9-Mangel","Faktor-IX-Mangel, kongenitaler","Christmas-Krankheit"],"definition":"Eine seltene hämatologische Störung, die durch spontane oder anhaltende Blutungen aufgrund eines Faktor-IX-Mangels gekennzeichnet ist."},"es":{"name":"Hemofilia B","synonyms":["Deficiencia congénita de F9","Deficiencia congénita de factor IX","Enfermedad de Navidad"],"definition":"Es una enfermedad hematológica poco frecuente caracterizada por hemorragias espontáneas o prolongadas debido a un déficit de factor IX."},"it":{"name":"Emofilia B","synonyms":["Deficit congenito del fattore IX","Deficit congenito di F9","Malattia di Christmas"]},"nl":{"name":"Hemofilie B","synonyms":["Congenitale F9-deficiëntie","Congenitale deficiëntie van factor IX","Ziekte van Christmas"],"definition":"Een zeldzame hematologische aandoening, gekenmerkt door spontane of langdurige hemorragie door deficiëntie van factor IX."},"pt":{"name":"Hemofilia B","synonyms":["Deficiência congénita de F9","Deficiência congénita de factor IX","Doença Christmas"],"definition":"Doença hematológica rara caracterizado por hemorragias espontâneas ou prolongadas devido à deficiência de fator IX."},"pl":{"name":"Hemofilia B","synonyms":["Choroba Christmasa","Niedobór czynnika IX"]},"cs":{"name":"Hemofilie B","synonyms":["Christmasova nemoc","Deficit faktoru IX"]},"uk":{"name":"Гемофілія В","synonyms":["Хвороба Крістмаса","Вроджений дефіцит F9","Вроджений дефіцит фактора IX"],"definition":"A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency."},"zh":{"name":"血友病B","synonyms":["IX因子缺乏症"],"definition":"血友病B是血友病(见该词条)的一种形式，其特征是因凝血因子IX缺乏而导致的自发性或长期出血。"},"tr":{"name":"Hemofili B","synonyms":["Christmas hastalığı","Faktör IX eksikliği"]}},"xrefs":[{"source":"OMIM","code":"300807","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"306900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D67","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3B11.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1901375668"},{"source":"MONDO","code":"0010604","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002836","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008533","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8732","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010467","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":448,"name":"Hemophilia","classifications":[156,194]}],"children":[{"orpha":177929,"name":"Bleeding disorder in hemophilia B carriers","type":"Clinical subtype"},{"orpha":617930,"name":"Hemophilia B Leyden","type":"Clinical subtype"},{"orpha":169799,"name":"Mild hemophilia B","type":"Clinical subtype"},{"orpha":169796,"name":"Moderate hemophilia B","type":"Clinical subtype"},{"orpha":169793,"name":"Severe hemophilia B","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"F9","name":"coagulation factor IX","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3551","ensembl":"ENSG00000101981","omim":"300746","loci":["Xq27.1"],"via":{"orpha":169793,"name":"Severe hemophilia B"}},{"symbol":"F9","name":"coagulation factor IX","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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