| {"0": "Abnormal circulating cholesterol concentration", "1": "Hyperlipidemia", "2": "Disproportionate short stature", "3": "Abnormality of head blood vessel", "4": "Sensorimotor neuropathy", "5": "Biliary tract abnormality", "6": "Arthritis", "7": "Ascites", "8": "Abnormal biliary tract morphology", "9": "Juvenile onset", "10": "Abnormality of pulmonary circulation", "11": "Increased bone mineral density", "12": "Cherry red spot of the macula", "13": "Bulbar signs", "14": "Abnormal retinal artery morphology", "15": "Abnormality of the metacarpal bones", "16": "Underdeveloped supraorbital ridges", "17": "Skin nodule", "18": "Hand polydactyly", "19": "Polyneuropathy", "20": "Rhizomelia", "21": "Abnormal tissue metabolite concentration", "22": "Ventricular hypertrophy", "23": "Adrenal insufficiency", "24": "Psychomotor deterioration", "25": "Deep palmar crease", "26": "Abnormal metatarsal morphology", "27": "Aplasia hypoplasia of toe", "28": "Abnormal enchondral ossification", "29": "Abnormality of adrenal physiology", "30": "Supranuclear gaze palsy", "31": "Bilateral sensorineural hearing impairment", "32": "Dolichocephaly", "33": "Nephrotic syndrome", "34": "Abnormal pulmonary interstitial morphology", "35": "Hypocholesterolemia", "36": "Horizontal nystagmus", "37": "Hepatic failure", "38": "Retinopathy", "39": "Abnormal conjunctiva morphology", "40": "Arteriosclerosis", "41": "Ectopic calcification", "42": "Paresthesia", "43": "Subcutaneous nodule", "44": "Submucous cleft of soft and hard palate", "45": "Elevated pulmonary artery pressure", "46": "Abnormal talus morphology", "47": "Toe walking", "48": "Anorexia", "49": "Disproportionate short limb short stature"} |