| {"0": "Dementia", "1": "Abnormal activity of mitochondrial respiratory chain", "2": "Optic disc pallor", "3": "Muscle abnormality related to mitochondrial dysfunction", "4": "Abnormal biliary tract morphology", "5": "Abnormality of hepatobiliary system physiology", "6": "Muscle stiffness", "7": "Mental deterioration", "8": "Hyperintensity of cerebral white matter on mri", "9": "Abnormal retinal artery morphology", "10": "Optic neuropathy", "11": "Biliary tract abnormality", "12": "Horizontal nystagmus", "13": "Blindness", "14": "Corneal opacity", "15": "Bulbar signs", "16": "Ragged red muscle fibers", "17": "Sensorimotor neuropathy", "18": "Hepatic failure", "19": "Abnormal choroid morphology", "20": "Abnormal chorioretinal morphology", "21": "Mitochondrial myopathy", "22": "Clumsiness", "23": "Polyneuropathy", "24": "Abnormal circulating lipid concentration", "25": "Abnormality of the mitochondrion", "26": "Left ventricular hypertrophy", "27": "Decreased activity of mitochondrial complex i", "28": "Abnormal mitochondria in muscle tissue", "29": "Poor head control", "30": "Disproportionate short stature", "31": "Action tremor", "32": "Progressive neurologic deterioration", "33": "Myoclonic seizure", "34": "Increased csf lactate", "35": "Central scotoma", "36": "Abnormality of head blood vessel", "37": "Abnormal circulating cholesterol concentration", "38": "Abnormality of femur morphology", "39": "Abnormality of pulmonary circulation", "40": "Mucosal telangiectasiae", "41": "Elevated pulmonary artery pressure", "42": "Abnormal csf metabolite level", "43": "Hypopigmented skin patches", "44": "Generalized myoclonic seizure", "45": "Abnormality of alkaline phosphatase level", "46": "Subcutaneous nodule", "47": "Abnormal tissue metabolite concentration", "48": "Respiratory distress", "49": "Young adult onset"} |