| {"0": "Corneal opacity", "1": "Abnormality of the larynx", "2": "Disproportionate short stature", "3": "Ascites", "4": "Clumsiness", "5": "Arteriosclerosis", "6": "Abnormal circulating lipid concentration", "7": "Abnormal biliary tract morphology", "8": "Hallucinations", "9": "Abnormality of femur morphology", "10": "Biliary tract abnormality", "11": "Abnormal retinal artery morphology", "12": "Abnormal circulating cholesterol concentration", "13": "Abnormal delivery", "14": "Abnormal thoracic spine morphology", "15": "Abnormal larynx morphology", "16": "Micromelia", "17": "Dementia", "18": "Disproportionate short limb short stature", "19": "Arthritis", "20": "Dysostosis multiplex", "21": "Delusions", "22": "Bulbar signs", "23": "Abnormality of head blood vessel", "24": "Juvenile onset", "25": "Abnormal femoral neck head morphology", "26": "Increased bone mineral density", "27": "Cherry red spot of the macula", "28": "Loss of speech", "29": "Toe walking", "30": "Abnormality of alkaline phosphatase level", "31": "Progressive neurologic deterioration", "32": "Abnormal vascular physiology", "33": "Increased susceptibility to fractures", "34": "Rhizomelia", "35": "Abnormality of the gingiva", "36": "Skin nodule", "37": "Horizontal nystagmus", "38": "Coxa valga", "39": "Abnormality of glycolipid metabolism", "40": "Pathologic fracture", "41": "Avascular necrosis", "42": "Abnormal tissue metabolite concentration", "43": "Bruising susceptibility", "44": "Subcutaneous hemorrhage", "45": "Abnormal epiphyseal ossification", "46": "Osteolysis", "47": "Epiphyseal stippling", "48": "Abnormality of the tarsal bones", "49": "Abnormal aortic valve morphology"} |