{"code":"C85067","name":"Sialic Acid Storage Disease","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Sialic Acid Storage Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Salla Disease","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sialic Acid Storage Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sialic Acid Storage Disease","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia.","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":"C0342853"}],"parents":[{"code":"C61250","name":"Lysosomal Storage Disease"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C207893","relatedName":"SLC17A5 Gene"}]}