{"code":"C98964","name":"Isovaleric Acidemia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Isovaleric Acidemia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Isovaleric Acidemia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Isovalericacidemia","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Isovaleric Acidemia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Isovaleryl-CoA Dehydrogenase Deficiency","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Isovaleric Acidemia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.","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":"C0268575"}],"parents":[{"code":"C101334","name":"Organic Acid Metabolism Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C190588","relatedName":"IVD Gene"}]}