{"code":"C61262","name":"Sanfilippo Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Mucopolysaccharidosis Type III","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sanfilippo Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sanfilippo Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P366","type":"Legacy Concept Name","value":"Sanfilippo_Syndrome"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0026706"}],"parents":[{"code":"C61259","name":"Mucopolysaccharidosis"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}