| {"0": "Abnormality of the spleen", "1": "Vascular skin abnormality", "2": "Mental deterioration", "3": "Recurrent respiratory infections", "4": "Abnormal vertebral morphology", "5": "Abnormality of the lymphatic system", "6": "Abnormality of glycolipid metabolism", "7": "Somatic sensory dysfunction", "8": "Cherry red spot of the macula", "9": "Urinary glycosaminoglycan excretion", "10": "Dysostosis multiplex", "11": "Hypoplasia of the odontoid process", "12": "Abnormal systemic arterial morphology", "13": "Thickened skin", "14": "Abnormality of the odontoid process", "15": "Splenomegaly", "16": "Abnormal shape of the frontal region", "17": "Respiratory tract infection", "18": "Abnormality of the upper respiratory tract", "19": "Abnormal upper limb bone morphology", "20": "Abnormality of the cervical spine", "21": "Dysphagia", "22": "Abnormal tissue metabolite concentration", "23": "Cerebral cortical atrophy", "24": "Corneal opacity", "25": "Abnormality of bone mineral density", "26": "Cognitive impairment", "27": "Abnormality of corneal stroma", "28": "Abnormality of the peripheral nervous system", "29": "Abnormal cornea morphology", "30": "Pulmonary infiltrates", "31": "Clumsiness", "32": "Abnormality of the tongue", "33": "Abnormality of head blood vessel", "34": "Abnormality of cardiovascular system electrophysiology", "35": "Abnormal retinal artery morphology", "36": "Beaking of vertebral bodies", "37": "Thoracic kyphosis", "38": "Bulbar signs", "39": "Abnormal pyramidal sign", "40": "Aplasia hypoplasia involving the vertebral column", "41": "Abnormal bone structure", "42": "Limb ataxia", "43": "Abnormal circulating cholesterol concentration", "44": "Developmental regression", "45": "Osteoarthritis", "46": "Abnormality of upper limb joint", "47": "Mask like facies", "48": "Abnormal lower limb bone morphology", "49": "Restrictive ventilatory defect"} |