| {"0": "Splenomegaly", "1": "Phenotypic variability", "2": "Abnormality of the spleen", "3": "Abnormal circulating lipid concentration", "4": "Abnormality of corneal stroma", "5": "Variable expressivity", "6": "Abnormality of the lymphatic system", "7": "Corneal opacity", "8": "Abnormality of head blood vessel", "9": "Arteriosclerosis", "10": "Increased bone mineral density", "11": "Biliary tract abnormality", "12": "Thin ribs", "13": "Abnormality of femur morphology", "14": "Abnormal biliary tract morphology", "15": "Hyperlipidemia", "16": "Abnormal retinal artery morphology", "17": "Disproportionate short stature", "18": "Mental deterioration", "19": "Hepatic failure", "20": "Thickened skin", "21": "Fibrous tissue neoplasm", "22": "Ventricular arrhythmia", "23": "Cortical dysplasia", "24": "Vascular skin abnormality", "25": "Clumsiness", "26": "Abnormality of the ribs", "27": "Cherry red spot of the macula", "28": "Abnormal glycosylation", "29": "Slender long bone", "30": "Cachexia", "31": "Abnormal social behavior", "32": "Abnormal leukocyte physiology", "33": "Unusual infection by anatomical site", "34": "Myoclonus", "35": "Abnormal vertebral morphology", "36": "Abnormality of humoral immunity", "37": "Abdominal pain", "38": "Dementia", "39": "Status epilepticus", "40": "Abnormality of the gingiva", "41": "Abnormal pericardium morphology", "42": "Abnormal circulating cholesterol concentration", "43": "Subcutaneous nodule", "44": "Impaired social interactions", "45": "Hallucinations", "46": "Abnormality of skull ossification", "47": "Retrognathia", "48": "Hypoplasia of the brainstem", "49": "Postural tremor"} |