{"orpha":448,"name":"Hemophilia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448/","orphanet_url":"https://www.orpha.net/en/disease/detail/448","names":{"fr":{"name":"Hémophilie","definition":"Maladie hématologique rare caractérisée par des hémorragies spontanées ou des saignements prolongés dus à un déficit en facteur VIII ou IX."},"de":{"name":"Hämophilie","definition":"Eine seltene hämatologische Störung, die durch spontane Blutungen oder anhaltende Blutungen aufgrund eines Mangels an Faktor VIII oder IX gekennzeichnet ist."},"es":{"name":"Hemofilia","definition":"Es una enfermedad hematológica poco frecuente caracterizada por hemorragias espontáneas o sangrado prolongado debido a un déficit de factor VIII o IX."},"it":{"name":"Emofilia"},"nl":{"name":"Hemofilie","definition":"Een zeldzame hematologische aandoening, gekenmerkt door spontane hemorragie of langdurige bloeding door deficiëntie van factor VIII of IX."},"pt":{"name":"Hemofilia","definition":"Doença hematológica rara caracterizada por hemorragia espontânea ou sangramento prolongado devido à deficiência de fator VIII ou IX."},"pl":{"name":"Hemofilia"},"cs":{"name":"Hemofilie"},"uk":{"name":"Гемофілія","definition":"A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency."},"zh":{"name":"血友病"},"tr":{"name":"Hemofili"}},"xrefs":[{"source":"MONDO","code":"0018660","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18660","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0684275","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10418","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10061992","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[{"orpha":98878,"name":"Hemophilia A","type":"Disease"},{"orpha":98879,"name":"Hemophilia B","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.25,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.7,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.46,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":null}