{"code":"C84720","name":"Hereditary Fructose Intolerance","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Hereditary Fructose Intolerance","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Fructose Intolerance","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Fructose-1,6-Bisphosphate Aldolase B Deficiency","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hereditary Fructose Intolerance","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Fructose-1,6-Bisphosphate Aldolase B Deficiency","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hereditary Fructose Intolerance","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hereditary Fructose Intolerance","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0016751"}],"parents":[{"code":"C97089","name":"Carbohydrate Metabolism Disorder"},{"code":"C34816","name":"Congenital Metabolic Disorder"},{"code":"C208312","name":"Intolerance to Substance"},{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C214472","relatedName":"ALDOB Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}