| {"0": "Increased bone mineral density", "1": "Abnormal circulating lipid concentration", "2": "Disproportionate short stature", "3": "Clumsiness", "4": "Abnormality of femur morphology", "5": "Biliary tract abnormality", "6": "Abnormal circulating cholesterol concentration", "7": "Cherry red spot of the macula", "8": "Abnormality of head blood vessel", "9": "Corneal opacity", "10": "Macular degeneration", "11": "Dementia", "12": "Pathologic fracture", "13": "Abnormal retinal artery morphology", "14": "Abnormality of epiphysis morphology", "15": "Rhizomelia", "16": "Abnormal biliary tract morphology", "17": "Avascular necrosis", "18": "Dermal atrophy", "19": "Disproportionate short limb short stature", "20": "Mental deterioration", "21": "Delusions", "22": "Abnormality of corneal stroma", "23": "Psychomotor deterioration", "24": "Abnormality of the ribs", "25": "Increased susceptibility to fractures", "26": "Abnormality of alkaline phosphatase level", "27": "Splenomegaly", "28": "Severe short stature", "29": "Contractures of the joints of the upper limbs", "30": "Proportionate short stature", "31": "Abnormal diaphysis morphology", "32": "Abnormal cardiac ventricular function", "33": "Abnormality of the wrist", "34": "Abnormality of pulmonary circulation", "35": "Slender long bone", "36": "Abnormal epiphyseal ossification", "37": "Microretrognathia", "38": "Arthritis", "39": "Aplasia hypoplasia of the femur", "40": "Sensorimotor neuropathy", "41": "Elevated pulmonary artery pressure", "42": "Abnormal form of the vertebral bodies", "43": "Ventricular arrhythmia", "44": "Aplasia hypoplasia involving the femoral head and neck", "45": "Bone pain", "46": "Subcutaneous nodule", "47": "Hypocalcemia", "48": "Abnormal pulmonary interstitial morphology", "49": "Abnormal muscle fiber morphology"} |