{"orpha":295243,"name":"Macrodactyly of toes, unilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Macrodactyly of foot, unilateral"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-295243/","orphanet_url":"https://www.orpha.net/en/disease/detail/295243","names":{"fr":{"name":"Macrodactylie des orteils, unilatérale","synonyms":["Macrodactylie du pied, unilatérale"]},"de":{"name":"Makrodaktylie der Zehen, unilateral","synonyms":["Makrodaktylie des Fusses, unilateral"]},"es":{"name":"Macrodactilia unilateral de dedos del pie","synonyms":["Macrodactilia unilateral del pie"]},"it":{"name":"Macrodattilia unilaterale delle dita del piede","synonyms":["Macrodattilia unilaterale del piede"]},"nl":{"name":"Macrodactylie van tenen, unilateraal","synonyms":["Macrodactylie van voet, unilateraal"]},"pt":{"name":"Macrodactilia dos dedos do pé, unilateral"},"pl":{"name":"Makrodaktylia palców stóp, jednostronna","synonyms":["Makrodaktylia stóp, jednostronna"]},"cs":{"name":"Makrodaktylie prstů nohy, unilaterální","synonyms":["Makrodaktylie nohou, unilaterální"]},"uk":{"name":"Макродактилія пальців ніг, одностороння","synonyms":["Макродактилія стопи, одностороння"]},"zh":{"name":"单侧巨趾症","synonyms":["单侧巨趾畸形"]},"tr":{"name":"Ayak parmakların makrodaktilisi, unilateral","synonyms":["Makrodaktili ayak, unilateral"]}},"xrefs":[{"source":"OMIM","code":"155500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB97.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1009940304"},{"source":"MONDO","code":"0017566","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679988","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":295047,"name":"Macrodactyly of toes","classifications":[147,156]},{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24782230[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}