{"orpha":79344,"name":"OBSOLETE: Chondrodysplasia punctata, Sheffield type","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Brachytelephalangic chondrodysplasia punctata","url":"https://raremap.alftech.space/d/ORPHA-79344/","orphanet_url":"https://www.orpha.net/en/disease/detail/79344","names":{"fr":{"name":"OBSOLETE : Chondrodysplasie ponctuée type Sheffield"},"de":{"name":"OBSOLET: Chondrodysplasia punctata Typ Sheffield"},"es":{"name":"OBSOLETO: Condrodisplasia punctata tipo Sheffield"},"it":{"name":"OBSOLETO: Condrodisplasia puntata autosomica dominante","synonyms":["OBSOLETO: Condrodisplasia puntata, tipo Sheffield"]},"nl":{"name":"OBSOLEET: Chondrodysplasia punctata, Sheffield-type"},"pt":{"name":"OBSOLETO: Condrodisplasia pontuada tipo Sheffield"},"pl":{"name":"NIEAKTUALNE: Chondrodysplazja punktowa, typu Sheffielda"},"cs":{"name":"NEAKTUÁLNÍ: Autozomálně dominantní chondrodysplasia punctata","synonyms":["NEAKTUÁLNÍ: Chondrodysplasia punctata, Sheffieldův typ"]},"uk":{"name":"ЗАСТАРІЛО: Хондродисплазія точкова, тип Шеффілда"},"zh":{"name":"弃用：点状软骨发育不良，Sheffield型"},"tr":{"name":"Eski adı: Kondrodisplazi punktata, Sheffield tipi"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":79345,"name":"Brachytelephalangic chondrodysplasia punctata"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}