{"orpha":98885,"name":"Bleeding diathesis due to glycoprotein VI 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-98885/","orphanet_url":"https://www.orpha.net/en/disease/detail/98885","names":{"fr":{"name":"Troubles hémorragiques par déficit en glycoprotéine VI"},"de":{"name":"Hämorrhagische Diathese durch Glykoprotein VI-Mangel"},"es":{"name":"Diátesis hemorrágica por deficiencia de glicoproteína VI"},"it":{"name":"Deficit di glicoproteina VI"},"nl":{"name":"Bloedingsdiathese door glycoproteïne VI-deficiëntie"},"pt":{"name":"Diátese hemorrágica por deficiência de glicoproteina VI"},"pl":{"name":"Skaza krwotoczna z powodu niedoboru glikoproteiny VI"},"cs":{"name":"Krvácivá diatéza způsobená deficitem glykoproteinu IV"},"uk":{"name":"Кровоточивий діатез внаслідок дефіциту глікопротеїну VI"},"zh":{"name":"糖蛋白VI缺乏所致出血性倾向"},"tr":{"name":"Glikoprotein VI eksikliğine bağlı kanama diyatezi"}},"xrefs":[{"source":"OMIM","code":"614201","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":"1940796688"},{"source":"MONDO","code":"0013623","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280120","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13293","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":[{"symbol":"GP6","name":"glycoprotein VI platelet","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19549989[PMID]_19552682[PMID]","hgnc":"14388","ensembl":"ENSG00000088053","omim":"605546","loci":["19q13.42"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}