| {"0": "Abnormality of hepatobiliary system physiology", "1": "Mental deterioration", "2": "Hepatic failure", "3": "Abnormal circulating lipid concentration", "4": "Dementia", "5": "Abnormal circulating cholesterol concentration", "6": "Respiratory failure", "7": "Muscle abnormality related to mitochondrial dysfunction", "8": "Biliary tract abnormality", "9": "Horizontal nystagmus", "10": "Corneal opacity", "11": "Abnormality of corneal stroma", "12": "Abnormal tissue metabolite concentration", "13": "Abnormal biliary tract morphology", "14": "Arteriosclerosis", "15": "Progressive neurologic deterioration", "16": "Optic disc pallor", "17": "Decreased activity of mitochondrial complex i", "18": "Mitochondrial myopathy", "19": "Cherry red spot of the macula", "20": "Skin nodule", "21": "Abnormal muscle fiber morphology", "22": "Proportionate short stature", "23": "Ectopic calcification", "24": "Abnormal retinal artery morphology", "25": "Abnormal social behavior", "26": "Ascites", "27": "Abnormal brainstem mri signal intensity", "28": "Tetraplegia tetraparesis", "29": "Abnormality of extrapyramidal motor function", "30": "Severe short stature", "31": "Bulbar signs", "32": "Abnormal epiphyseal ossification", "33": "Abnormal pulmonary interstitial morphology", "34": "Blindness", "35": "Schizophrenia", "36": "Abnormality of head blood vessel", "37": "Increased intracranial pressure", "38": "Abnormality of skull ossification", "39": "Variable expressivity", "40": "Abnormality of alkaline phosphatase level", "41": "Splenomegaly", "42": "Foam cells", "43": "Abnormal enchondral ossification", "44": "Toe walking", "45": "Abnormal activity of mitochondrial respiratory chain", "46": "Optic neuropathy", "47": "Ventricular hypertrophy", "48": "Arthritis", "49": "Poor head control"} |