{"orpha":293144,"name":"Familial clubfoot due to 5q31 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hereditary clubfoot due to 5q31 microdeletion"],"definition":null,"note":"This disease is described under Familial clubfoot with or without associated lower limb anomalies","url":"https://raremap.alftech.space/d/ORPHA-293144/","orphanet_url":"https://www.orpha.net/en/disease/detail/293144","names":{"fr":{"name":"Pied bot familial dû à une microdélétion 5q31","synonyms":["Pied bot héréditaire dû à une microdélétion 5q31"]},"de":{"name":"Klumpfuß, familiärer, durch Mikrodeletion 5q31","synonyms":["Klumpfuß, hereditärer, durch Mikrodeletion 5q31"]},"es":{"name":"Pie zambo familiar por una microdeleción 5q31","synonyms":["Pie zambo hereditario por una microdeleción 5q31"]},"it":{"name":"Piede torto familiare da microdelezione 5q31","synonyms":["Piede torto ereditario da microdelezione 5q31"]},"nl":{"name":"Familiale klompvoet door 5q31-microdeletie","synonyms":["Erfelijke klompvoet door 5q31-microdeletie"]},"pt":{"name":"Pé boto familiar por microdeleção 5q31","synonyms":["Pé boto hereditário por microdeleção 5q31"]},"pl":{"name":"Rodzinna stopa końsko-szpotawa z powodu mikrodelecji 5q31","synonyms":["Dziedziczna stopa końsko-szpotawa z powodu mikrodelecji 5q31"]},"cs":{"name":"Familiární pes equinovarus způsobený mikrodelecí 5q31","synonyms":["Dědičný pes equinovarus congenitus způsobený mikrodelecí 5q31"]},"uk":{"name":"Сімейна клишоногість внаслідок мікроделеції 5q31","synonyms":["Спадкова клишоногість внаслідок мікроделеції 5q31"]},"zh":{"name":"5q31微缺失所致家族性马蹄内翻足","synonyms":["5q31微缺失所致家族性马蹄内翻足"]},"tr":{"name":"5q31 mikrodelesyonu kaynaklı ailesel çarpık ayak","synonyms":["5q31 mikrodelesyonuna bağlı kalıtsal çarpık ayak"]}},"xrefs":[{"source":"OMIM","code":"119800","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.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679944","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PITX1","name":"paired like homeodomain 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21775501[PMID]","hgnc":"9004","ensembl":"ENSG00000069011","omim":"602149","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}