| {"0": "Recurrent fractures", "1": "Serositis", "2": "Malignant neoplasm of the central nervous system", "3": "Clubbing", "4": "Abnormality of the female genitalia", "5": "Abnormality of the ovary", "6": "Abnormal glial cell morphology", "7": "Somatic mutation", "8": "Neoplasm of the skeletal system", "9": "Increased susceptibility to fractures", "10": "Abnormality of coagulation", "11": "Abnormal metabolism", "12": "Talipes equinovarus", "13": "Neonatal onset", "14": "Slowly progressive", "15": "Abnormal epidermal morphology", "16": "Abnormal circulating lipid concentration", "17": "Sarcoma", "18": "Abnormality of the metaphysis", "19": "Contractures of the joints of the upper limbs", "20": "Immunologic hypersensitivity", "21": "Distal muscle weakness", "22": "Diffuse mesangial sclerosis", "23": "Abnormal duodenum morphology", "24": "Fibrous tissue neoplasm", "25": "Abnormality of the peritoneum", "26": "Abnormal glomerular mesangium morphology", "27": "Abnormal form of the vertebral bodies", "28": "Subcutaneous nodule", "29": "Abnormal cranial nerve physiology", "30": "Cough", "31": "Abnormality of the lymph nodes", "32": "Glomerulonephritis", "33": "Abnormal internal genitalia", "34": "Childhood onset", "35": "Nephritis", "36": "Neoplasm of the respiratory system", "37": "Recurrent bacterial infections", "38": "Retinopathy", "39": "Multiple cafe au lait spots", "40": "Proptosis", "41": "Colon cancer", "42": "Long fingers", "43": "Dolichocephaly", "44": "Limb joint contracture", "45": "Intestinal malrotation", "46": "Joint contracture of the hand", "47": "Neoplasm of the genitourinary tract", "48": "Hand polydactyly", "49": "Abnormal uvula morphology"} |