{"code":"C119054","name":"Muckle-Wells Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Muckle-Wells Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"MWS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Muckle-Wells Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"MWS","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Muckle-Wells Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0268390"}],"parents":[{"code":"C119050","name":"Autoinflammatory Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C77202","relatedName":"NLRP3 Gene"}]}