{"orpha":295239,"name":"Macrodactyly of fingers, unilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Macrodactyly of hand, unilateral"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-295239/","orphanet_url":"https://www.orpha.net/en/disease/detail/295239","names":{"fr":{"name":"Macrodactylie des doigts, unilatérale","synonyms":["Macrodactylie de la main, unilatérale"]},"de":{"name":"Makrodaktylie der Finger, unilateral","synonyms":["Makrodaktylie der Hand, unilateral"]},"es":{"name":"Macrodactilia unilateral de dedos de la mano","synonyms":["Macrodactilia unilateral de la mano"]},"it":{"name":"Macrodattilia unilaterale delle dita della mano","synonyms":["Macrodattilia unilaterale della mano"]},"nl":{"name":"Macrodactylie van vinger, unilateraal","synonyms":["Macrodactylie van hand, unilateraal"]},"pt":{"name":"Macrodactilia dos dedos da mão, unilateral"},"pl":{"name":"Makrodaktylia palców, jednostronna","synonyms":["Makrodaktylia dłoni, jednostronna"]},"cs":{"name":"Makrodaktylie prstů ruky, unilaterální","synonyms":["Makrodaktylie rukou, unilaterální"]},"uk":{"name":"Макродактилія пальців, одностороння","synonyms":["Макродактилія кисті, одностороння"]},"zh":{"name":"单侧手指巨指症","synonyms":["单侧巨指畸形"]},"tr":{"name":"Parmak makrodaktilisi, unilateral","synonyms":["Makrodaktili el, unilateral"]}},"xrefs":[{"source":"OMIM","code":"155500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB97.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"128394973"},{"source":"MONDO","code":"0017564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":295044,"name":"Macrodactyly of fingers","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":"23100325[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}