{"code":"C202612","name":"Progressive Pseudorheumatoid Dysplasia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Progressive Pseudorheumatoid Dysplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"PPRD","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Progressive Pseudorheumatoid Dysplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Progressive Pseudorheumatoid Dysplasia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive condition caused by mutation(s) in the CCN6 gene, encoding cellular communication network factor 6. It is a progressive arthropathy that clinically resembles rheumatoid arthritis but differs in its radiological appearance.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0432215"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C21418","relatedName":"CCN6 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}