{"orpha":98878,"name":"Hemophilia A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital F8 deficiency","Congenital FVIII deficiency","Congenital Factor VIII deficiency"],"definition":"A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98878/","orphanet_url":"https://www.orpha.net/en/disease/detail/98878","names":{"fr":{"name":"Hémophilie A","synonyms":["Déficit congénital en F8","Déficit congénital en FVIII","Déficit congénital en facteur VIII"],"definition":"Maladie hématologique génétique rare caractérisée par des hémorragies spontanées ou prolongées dues à un déficit en facteur VIII."},"de":{"name":"Hämophilie A","synonyms":["Angeborener F8-Mangel","Faktor-VIII-Mangel, kongenitaler"],"definition":"Eine seltene genetisch bedingte hämatologische Störung, die durch spontane oder lang anhaltende Blutungen aufgrund eines Faktor-VIII-Mangels gekennzeichnet ist."},"es":{"name":"Hemofilia A","synonyms":["Deficiencia congénita de F8","Deficiencia congénita de FVIII","Deficiencia congénita de factor VIII"],"definition":"Es una enfermedad hematológica poco frecuente de origen genético y caracterizada por hemorragias espontáneas o prolongadas debido a un déficit del factor VIII."},"it":{"name":"Emofilia A","synonyms":["Deficit congenito del fattore VIII","Deficit congenito di F8","Deficit congenito di FVIII"]},"nl":{"name":"Hemofilie A","synonyms":["Congenitale F8-deficiëntie","Congenitale FVIII-deficiëntie","Congenitale deficiëntie van factor VIII"],"definition":"Een zeldzame genetische hematologische aandoening, gekenmerkt door spontane of langdurige hemorragie door deficiëntie van factor VIII."},"pt":{"name":"Hemofilia A","synonyms":["Deficiência congénita de F8","Deficiência congénita de factor VIII"],"definition":"Doença hematológica genética rara caracterizada por hemorragias espontâneas ou prolongadas devido à deficiência de fator VIII."},"pl":{"name":"Hemofilia A","synonyms":["Niedobór czynnika VIII"]},"cs":{"name":"Hemofilie A","synonyms":["Deficit faktoru VIII"]},"uk":{"name":"Гемофілія А","synonyms":["Вроджений дефіцит F8","Вроджений дефіцит фактора VIII","Вроджений дефіцит FVIII"],"definition":"A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency."},"zh":{"name":"血友病A","synonyms":["VIII因子缺乏症"],"definition":"血友病A是最常见的血友病(见该词条)，其特征是因VIII因子缺乏导致的自发性或长期出血。"},"tr":{"name":"Hemofili A","synonyms":["FVIII eksikliği","Faktör VIII eksikliği"]}},"xrefs":[{"source":"OMIM","code":"306700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D66","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3B10.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"337607970"},{"source":"MONDO","code":"0010602","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6591","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010468","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":177926,"name":"Bleeding disorder in hemophilia A carriers","type":"Clinical subtype"},{"orpha":169808,"name":"Mild hemophilia A","type":"Clinical subtype"},{"orpha":169805,"name":"Moderate hemophilia A","type":"Clinical subtype"},{"orpha":169802,"name":"Severe hemophilia A","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"F8","name":"coagulation factor VIII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301578[PMID]","hgnc":"3546","ensembl":"ENSG00000185010","omim":"300841","loci":["Xq28"],"via":{"orpha":169802,"name":"Severe hemophilia A"}},{"symbol":"F8","name":"coagulation factor VIII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301578[PMID]","hgnc":"3546","ensembl":"ENSG00000185010","omim":"300841","loci":["Xq28"],"via":{"orpha":169805,"name":"Moderate hemophilia A"}},{"symbol":"F8","name":"coagulation factor 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prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Georgia","status":"Validated","source":"19845775[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-04","source":"11246535[PMID]_427411[PMID]_20301578[PMID]_27178624[PMID]_20301578[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011889","label":"Bleeding with minor or no trauma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003125","label":"Reduced factor VIII activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Frequent 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