{"orpha":98886,"name":"Bleeding diathesis due to integrin alpha2-beta1 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Bleeding diathesis due to a collagen receptor defect","url":"https://raremap.alftech.space/d/ORPHA-98886/","orphanet_url":"https://www.orpha.net/en/disease/detail/98886","names":{"fr":{"name":"Troubles hémmoragiques par déficit en intégrine alpha2-bêta1"},"de":{"name":"Hämorrhagische Diathese durch Integrin alpha2-beta1-Mangel","synonyms":["Integrin alpha2-beta1-Mangel"]},"es":{"name":"Deficiencia de integrina alfa2-beta1"},"it":{"name":"Deficit di integrina alfa2-beta1"},"nl":{"name":"Bloedingsdiathese door integrine alfa-2-bèta-1-deficiëntie"},"pt":{"name":"Diátese hemorrágica por deficiência de integrina alfa2-beta1","synonyms":["Deficiência de integrina alfa2-beta1"]},"pl":{"name":"Skaza krwotoczna z powodu niedoboru integryny alfa2-beta1"},"cs":{"name":"Krvácivá diatéza způsobená deficitem integrinu alfa2-beta1"},"uk":{"name":"Кровоточивий діатез, спричинений дефіцитом інтегрину альфа2-бета1"},"zh":{"name":"整合素α2-β1缺乏所致出血性倾向"},"tr":{"name":"İntegrin alfa2-beta1 eksikliğine bağlı kanama diyatezi"}},"xrefs":[{"source":"OMIM","code":"614200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1508140529"},{"source":"MONDO","code":"0013622","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280114","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":73271,"name":"Bleeding diathesis due to a collagen receptor defect","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}