{"orpha":295195,"name":"Synpolydactyly type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SD2, Vordingborg type","SD2a","SPD, Vordingborg type","SPD1","Synpolydactyly, Vordingborg type"],"definition":null,"note":"This disease is described under Syndactyly type 2","url":"https://raremap.alftech.space/d/ORPHA-295195/","orphanet_url":"https://www.orpha.net/en/disease/detail/295195","names":{"fr":{"name":"Sympolydactylie type 1","synonyms":["SD2 type Vordingborg","SD2a","SPD type Vordingborg","SPD1","Sympolydactylie type Vordingborg"]},"de":{"name":"Synpolydaktylie Typ 1","synonyms":["SD2 Typ Vordingborg","SD2a","SPD Typ Vordingborg","SPD1","Synpolydaktylie Typ Vordingborg"]},"es":{"name":"Polisindactilia tipo 1","synonyms":["Polisindactilia tipo Vordingborg","SD2 tipo Vordingborg","SD2a","SPD tipo Vordingborg","SPD1"]},"it":{"name":"Sinpolidattilia, tipo 1","synonyms":["SD2, tipo Vordingborg","SD2a","SPD, tipo Vordingborg","SPD1","Sinpolidattilia, tipo Vordingborg"]},"nl":{"name":"Synpolydactylie type 1","synonyms":["SD2, Vordingborg-type","SD2a","SPD, Vordingborg-type","SPD1","Synpolydactylie, Vordingborg-type"]},"pt":{"name":"Simpolidactilia tipo 1","synonyms":["SD2, tipo Vordingborg","SD2a","SPD, tipo Vordingborg","SPD1","Simpolidactilia, tipo Vordingborg"]},"pl":{"name":"Synpolidaktylia typu 1","synonyms":["SD2, typ Vordingborga","SD2a","SPD, typ Vordingborga","SPD1","Synpolidaktylia, typ Vordingborga"]},"cs":{"name":"Synpolydaktylie, typ 1","synonyms":["SD2a","SPD1","SD2, Vordingborgův typ","SPD, Vordingborgův typ","Synpolydaktylie, Vordingborgův typ"]},"uk":{"name":"Синполідактилія, тип 1","synonyms":["SD2, тип Вордінгборг","SD2a","SPD, тип Вордінгборг","SPD1","Синполідактилія, вордінгборзький тип"]},"zh":{"name":"联指1型","synonyms":["并指（趾）Vordingborg型"]},"tr":{"name":"Sinpolidaktili tip 1","synonyms":["SD2a","SPD1","SD2, Vordingborg tipi","SPD, Vordingborg tipi","Sinpolidaktili, Vordingborg tipi"]}},"xrefs":[{"source":"OMIM","code":"186000","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":"1701170393"},{"source":"MONDO","code":"0008513","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574994","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":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22448207[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}