| {"0": "Abnormality of the mitochondrion", "1": "Abnormal blood glucose concentration", "2": "Abnormal urine ph", "3": "Organic aciduria", "4": "Metabolic acidosis", "5": "Hyperammonemia", "6": "Lethargy", "7": "Abnormal circulating nitrogen compound concentration", "8": "Aminoaciduria", "9": "Abnormal circulating fatty acid concentration", "10": "Dicarboxylic aciduria", "11": "Abnormal synaptic transmission at the neuromuscular junction", "12": "Reduced consciousness confusion", "13": "Abnormality of acid base homeostasis", "14": "Abnormal circulating fatty acid anion concentration", "15": "Abnormal circulating dicarboxylic acid concentration", "16": "Decreased plasma carnitine", "17": "Coma", "18": "Myalgia", "19": "Increased head circumference", "20": "Encephalopathy", "21": "Recurrent fractures", "22": "Increased serum lactate", "23": "Myopathy", "24": "Abnormality of circulating enzyme level", "25": "Leukodystrophy", "26": "Limb undergrowth", "27": "Abnormal activity of mitochondrial respiratory chain", "28": "Distal muscle weakness", "29": "Abnormal circulating carboxylic acid concentration", "30": "Platyspondyly", "31": "Hamartoma", "32": "Hammertoe", "33": "Tachycardia", "34": "Abnormality of hepatobiliary system physiology", "35": "Ventricular arrhythmia", "36": "Abnormal circulating lipid concentration", "37": "Dehydration", "38": "Abnormal circulating proteinogenic amino acid concentration", "39": "Elevated hepatic transaminase", "40": "Ragged red muscle fibers", "41": "Abnormality of cardiovascular system electrophysiology", "42": "Lipid accumulation in hepatocytes", "43": "Neonatal hypoglycemia", "44": "Infection related seizure", "45": "Cardiac conduction abnormality", "46": "Polyhydramnios", "47": "Immunologic hypersensitivity", "48": "Renal tubular acidosis", "49": "Goiter"} |