{"orpha":295197,"name":"Synpolydactyly type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SD2, Debeer type","SD2b","SPD, Debeer type","SPD2","Synpolydactyly, Debeer type"],"definition":null,"note":"This disease is described under Syndactyly type 2","url":"https://raremap.alftech.space/d/ORPHA-295197/","orphanet_url":"https://www.orpha.net/en/disease/detail/295197","names":{"fr":{"name":"Sympolydactylie type 2","synonyms":["SD2 type Debeer","SD2b","SPD type Debeer","SPD2","Sympolydactylie type Debeer"]},"de":{"name":"Synpolydaktylie Typ 2","synonyms":["SD2 Typ Debeer","SD2b","SPD Typ Debeer","SPD2","Synpolydaktylie Typ Debeer"]},"es":{"name":"Polisindactilia tipo 2","synonyms":["Polisindactilia tipo Debeer","SD2 tipo Debeer","SD2b","SPD tipo Debeer","SPD2"]},"it":{"name":"Sinpolidattilia, tipo 2","synonyms":["SD2, tipo Debeer","SD2b","SPD, tipo Debeer","SPD2","Sinpolidattilia, tipo Debeer"]},"nl":{"name":"Synpolydactylie type 2","synonyms":["SD2, Debeer-type","SD2b","SPD, Debeer-type","SPD2","Synpolydactylie, Debeer-type"]},"pt":{"name":"Simpolidactilia, tipo 2","synonyms":["SD2, tipo Debeer","SD2b","SPD, tipo Debeer","SPD2","Simpolidactilia, tipo Debeer"]},"pl":{"name":"Synpolidaktylia typu 2","synonyms":["SD2, typ Debeera","SD2b","SPD, typ Debeera","SPD2","Synpolidaktylia, typ Debeera"]},"cs":{"name":"Synpolydaktylie, typ 2","synonyms":["SD2b","SPD2","SD2, Debeerův typ","SPD, Debeerův typ","Synpolydaktylie, Debeerův typ"]},"uk":{"name":"Синполідактилія, тип 2","synonyms":["SD2, тип Debeer","SD2b","SPD, тип Debeer","SPD2","Синполідактилія, тип Дебера"]},"zh":{"name":"联指2型","synonyms":["并指（趾）Debeer型"]},"tr":{"name":"Sinpolidaktili tip 2","synonyms":["SD2b","SPD2","SD2, Debeer tipi","SPD, Debeer tipi","Sinpolidaktili, Debeer tip"]}},"xrefs":[{"source":"OMIM","code":"608180","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q70.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1370014661"},{"source":"MONDO","code":"0011984","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564278","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842422","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93403,"name":"Syndactyly type 2","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FBLN1","name":"fibulin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22448207[PMID]_11836357[PMID]","hgnc":"3600","ensembl":"ENSG00000077942","omim":"135820","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}