| {"0": "Biliary tract abnormality", "1": "Abnormal biliary tract morphology", "2": "Disproportionate short stature", "3": "Abnormality of corneal stroma", "4": "Abnormal pulmonary interstitial morphology", "5": "Increased circulating antibody level", "6": "Abnormality of exocrine pancreas physiology", "7": "Disproportionate short limb short stature", "8": "Cherry red spot of the macula", "9": "Thin eyebrow", "10": "Rhizomelia", "11": "Heterogeneous", "12": "Hypomimic face", "13": "Corneal opacity", "14": "Reticulocytopenia", "15": "Sparse and thin eyebrow", "16": "Abnormality of the shoulder girdle musculature", "17": "Abnormal b cell morphology", "18": "Arthritis", "19": "Neuronal loss in central nervous system", "20": "Shoulder girdle muscle weakness", "21": "Abnormality of bone mineral density", "22": "Telangiectasia", "23": "Adenocarcinoma of the colon", "24": "Goiter", "25": "Erythroid hypoplasia", "26": "Vertebral compression fracture", "27": "Abnormal leukocyte physiology", "28": "Immunodeficiency", "29": "Absent thumb", "30": "Abnormality of the thenar eminence", "31": "Persistence of hemoglobin f", "32": "Osteosarcoma", "33": "Ventricular arrhythmia", "34": "Increased mean corpuscular volume", "35": "Abnormal retinal artery morphology", "36": "Partial duplication of the phalanx of hand", "37": "Slender long bone", "38": "Bradykinesia", "39": "Ventricular hypertrophy", "40": "Bulbar signs", "41": "Abnormal vertebral morphology", "42": "Abnormality of head blood vessel", "43": "Abnormality of hair pigmentation", "44": "Abnormal bone structure", "45": "Increased bone mineral density", "46": "Recurrent respiratory infections", "47": "Abnormal pericardium morphology", "48": "Vascular skin abnormality", "49": "Avascular necrosis"} |