{"orpha":295201,"name":"Congenital vertical talus, unilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Congenital vertical talus","url":"https://raremap.alftech.space/d/ORPHA-295201/","orphanet_url":"https://www.orpha.net/en/disease/detail/295201","names":{"fr":{"name":"Pied convexe congénital unilatéral","synonyms":["Pied en piolet congénital unilatéral"]},"de":{"name":"Talus verticalis, kongenital, unilateral"},"es":{"name":"Astrágalo vertical congénito unilateral"},"it":{"name":"Talo verticale congenito unilaterale"},"nl":{"name":"Congenitale verticale talus, unilateraal"},"pt":{"name":"Talo vertical congénito, unilateral"},"pl":{"name":"Wrodzona stopa płasko-koślawa, jednostronna"},"cs":{"name":"Unilaterální vrozený vertikální talus"},"uk":{"name":"Вроджена вертикальна таранна кістка, одностороння"},"zh":{"name":"先天性单侧垂直距骨"},"tr":{"name":"Doğumsal vertikal talus, unilateral"}},"xrefs":[{"source":"OMIM","code":"192950","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB98.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2123428798"},{"source":"MONDO","code":"0017546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":178382,"name":"Congenital vertical talus","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HOXD10","name":"homeobox D10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5133","ensembl":"ENSG00000128710","omim":"142984","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}