| {"0": "Corneal opacity", "1": "Arthritis", "2": "Abnormal biliary tract morphology", "3": "Biliary tract abnormality", "4": "Abnormality of corneal stroma", "5": "Abnormal retinal artery morphology", "6": "Abnormality of head blood vessel", "7": "Osteoarthritis", "8": "Increased bone mineral density", "9": "Abnormal delivery", "10": "Contractures of the joints of the upper limbs", "11": "Abnormal vascular physiology", "12": "Abnormality of femur morphology", "13": "Clumsiness", "14": "Abnormality of humoral immunity", "15": "Neuronal loss in central nervous system", "16": "Joint contracture of the hand", "17": "Cherry red spot of the macula", "18": "Abnormal circulating cholesterol concentration", "19": "Abnormal leukocyte physiology", "20": "Abnormal tissue metabolite concentration", "21": "Loss of speech", "22": "Absent septum pellucidum", "23": "Coxa valga", "24": "Delusions", "25": "Submucous cleft of soft and hard palate", "26": "Abnormality of the 5th toe", "27": "Dementia", "28": "Abnormal pericardium morphology", "29": "Abnormality of the septum pellucidum", "30": "Abnormal epiphyseal ossification", "31": "Postaxial foot polydactyly", "32": "Exaggerated startle response", "33": "Myoclonus", "34": "Airway obstruction", "35": "Abnormal circulating lipid concentration", "36": "Abnormality of the autonomic nervous system", "37": "Cerebral white matter atrophy", "38": "Abnormal pulmonary interstitial morphology", "39": "Polyneuropathy", "40": "Abnormal aortic valve physiology", "41": "Delayed epiphyseal ossification", "42": "Abnormal talus morphology", "43": "Arteriosclerosis", "44": "Intellectual disability progressive", "45": "Osteopenia", "46": "Central apnea", "47": "Aganglionic megacolon", "48": "Abnormal enchondral ossification", "49": "Abnormality of exocrine pancreas physiology"} |