{"code":"C84628","name":"Cerebrotendinous Xanthomatosis","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Cerebrotendinous Xanthomatosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Cerebrotendinous Xanthomatosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Cerebrotendinous Xanthomatosis","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized by progressive neurologic dysfunction, premature atherosclerosis and development of cataracts.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0238052"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C104149","relatedName":"CYP27A1 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}