{"orpha":166081,"name":"Von Willebrand disease type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166081/","orphanet_url":"https://www.orpha.net/en/disease/detail/166081","names":{"fr":{"name":"Maladie de von Willebrand type 2","definition":"Forme de la maladie de von Willebrand (MvW) caractérisée par un trouble hémorragique associé à des anomalies qualitatives et fonctionnelles du facteur von Willebrand (FVW). Selon le type d'anomalies fonctionnelles, on distingue les types 2A, 2B, 2M ou 2N."},"de":{"name":"Von-Willebrand-Erkrankung Typ 2","synonyms":["Von-Willebrand-Syndrom Typ 2","VWE Typ 2"],"definition":"Der Typ 2 der von-Willebrand-Erkraknung (Typ 2 VWE), eine Form der VWE, ist gekennzeichnet durch eine Blutungsneigung mit qualitativem Mangel und funktionellen Anomalien des von-Willebrand-Faktors (VWF). Je nach Art der funktionellen Anomalien werden 4 Subtypen unterschieden: Typ 2A, 2B, 2M oder 2N."},"es":{"name":"Enfermedad de Von Willebrand tipo 2","definition":"Es una forma de la enfermedad de von Willebrand (EVW) caracterizada por un trastorno hemorrágico asociado a una deficiencia cualitativa y anomalías funcionales del factor von Willebrand (FVW). Según el tipo de anomalías funcionales, esta forma se clasifica como subtipo 2A, 2B, 2M o 2N."},"it":{"name":"Malattia di von Willebrand, tipo 2","synonyms":["Malattia di Willebrand, tipo 2"],"definition":"La malattia di Von Willebrand tipo 2 (VWD tipo 2) è una forma della malattia di Von Willebrand (VWD) caratterizzata da una malattia emorragica associata e ad un deficit qualitativo e ad anomalie funzionali del fattore Willebrand (VWF). A seconda del tipo di anomalie funzionali, questa forma della malattia viene suddivisa nei tipi 2A, 2B, 2M o 2N."},"nl":{"name":"Ziekte van von Willebrand type 2","definition":"Een vorm van ziekte van von Willebrand (VWD), gekarakteriseerd door een bloedingsstoornis geassocieerd met kwalitatieve deficiëntie en functionele anomalieën van von Willebrand-factor (VWF). Afhankelijk van het type van functionele afwijking, wordt deze vorm geclassificeerd als type 2A, 2B, 2M of 2N."},"pt":{"name":"Doença de von Willebrand, tipo 2","definition":"A doença de von Willebrand tipo 2 (VWD tipo 2) é uma forma da VWD (ver este termo) caracterizada por uma patologia hemorrágica associada a uma deficiência qualitativa e anomalias funcionais do factor de Willebrand (factor de von Willebrand; VWF)."},"pl":{"name":"Choroba von Willebranda typu 2","synonyms":["Choroba Willebranda typu 2"],"definition":"Postać choroby von Willebranda (VWD) charakteryzująca się zaburzeniami krzepnięcia związanymi z jakościowym niedoborem i nieprawidłowościami funkcjonalnymi czynnika Willebranda (VWF). W zależności od rodzaju nieprawidłowości funkcjonalnych postać tę klasyfikuje się jako typ 2A, 2B, 2M lub 2N."},"cs":{"name":"Von Willebrandova nemoc, typ 2"},"uk":{"name":"Хвороба фон Віллебранда, тип 2","definition":"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N."},"zh":{"name":"血管性血友病2型","definition":"2型血管性血友病(2型VWD)是VWD的一种(见该词条)，其特征是伴血友病因子(血管性血友病因子，VWF)定性缺陷和功能异常的出血性疾病。"},"tr":{"name":"Von Willebrand hastalığı tip 2"}},"xrefs":[{"source":"OMIM","code":"613554","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1658351780"},{"source":"MONDO","code":"0013304","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056728","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1264040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":903,"name":"Von Willebrand disease","classifications":[156,194]}],"children":[{"orpha":166084,"name":"Von Willebrand disease type 2A","type":"Clinical subtype"},{"orpha":166087,"name":"Von Willebrand disease type 2B","type":"Clinical subtype"},{"orpha":166090,"name":"Von Willebrand disease type 2M","type":"Clinical subtype"},{"orpha":166093,"name":"Von Willebrand disease type 2N","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.935,"area":"Worldwide","status":"Validated","source":"30306084[PMID]"}],"phenotypes":null}