| {"0": "Abnormal bone structure", "1": "Abnormality of bone mineral density", "2": "Abnormal cellular phenotype", "3": "Vascular skin abnormality", "4": "Abnormal lower limb bone morphology", "5": "Abnormal sternum morphology", "6": "Abnormal joint morphology", "7": "Dyspnea", "8": "Cognitive impairment", "9": "Pain", "10": "Abnormality of long bone morphology", "11": "Fluctuations in consciousness", "12": "Recurrent respiratory infections", "13": "Aplasia hypoplasia involving the femoral head and neck", "14": "Reduced consciousness confusion", "15": "Hypoketotic hypoglycemia", "16": "Abnormality of upper limb joint", "17": "Hepatomegaly", "18": "Abnormal upper limb bone morphology", "19": "Abnormal vertebral morphology", "20": "Reduced visual acuity", "21": "Abnormality of the curvature of the vertebral column", "22": "Abnormal abdomen morphology", "23": "Abnormal bleeding", "24": "Avascular necrosis", "25": "Abnormality of skeletal maturation", "26": "Mental deterioration", "27": "Abnormal myocardium morphology", "28": "Short nose", "29": "Generalized joint laxity", "30": "Abnormal inflammatory response", "31": "Neonatal hypoglycemia", "32": "Neuronal loss in central nervous system", "33": "Localized skin lesion", "34": "Abnormality of the middle ear", "35": "Abnormality of the palm", "36": "Abnormality of the cerebrospinal fluid", "37": "Abnormal nervous system electrophysiology", "38": "Abnormal blood glucose concentration", "39": "Abnormality of the nail", "40": "Constitutional symptom", "41": "Abnormal pericardium morphology", "42": "Bone pain", "43": "Short ribs", "44": "Aplasia hypoplasia of the femur", "45": "Short digit", "46": "Wormian bones", "47": "Aplasia hypoplasia involving bones of the lower limbs", "48": "Abnormality of the upper respiratory tract", "49": "Abnormality of skin pigmentation"} |