{"code":"C85030","name":"Propionic Acidemia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Propionic Acidemia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Propionic Acidemia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Propionic Acidemia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Propionic Acidemia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.","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":"C0268579"}],"parents":[{"code":"C101334","name":"Organic Acid Metabolism Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C222087","relatedName":"PCCA Gene"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C222090","relatedName":"PCCB Gene"}]}