| {"0": "Oral ulcer", "1": "Autoimmune hemolytic anemia", "2": "Abnormal circulating sulfur amino acid concentration", "3": "Abnormal palate morphology", "4": "Recurrent viral infections", "5": "Neoplasm by histology", "6": "Abnormality of the female genitalia", "7": "Abnormality of the cervical spine", "8": "Abnormal t cell subset distribution", "9": "Abnormal internal genitalia", "10": "Muscle fiber inclusion bodies", "11": "Persistence of hemoglobin f", "12": "Gonadal neoplasm", "13": "Reticulocytopenia", "14": "Abnormal t cell morphology", "15": "Hamartoma", "16": "Fatty replacement of skeletal muscle", "17": "Malignant genitourinary tract tumor", "18": "Postaxial polydactyly", "19": "Abnormal thyroid morphology", "20": "Erythroid hypoplasia", "21": "Pure red cell aplasia", "22": "Abnormality of the thenar eminence", "23": "Triphalangeal thumb", "24": "Hypoplasia of the corpus callosum", "25": "High palate", "26": "Adenocarcinoma of the colon", "27": "Osteosarcoma", "28": "Recurrent pneumonia", "29": "Absent thumb", "30": "Abnormality of the thyroid gland", "31": "Aplasia of the fingers", "32": "Abnormal hair pattern", "33": "Epicanthus", "34": "Recurrent lower respiratory tract infections", "35": "Abnormal scalp morphology", "36": "Abnormal 5th finger morphology", "37": "Abnormality of the breast", "38": "Sleep disturbance", "39": "Abnormality of long bone morphology", "40": "Lymphopenia", "41": "Developmental glaucoma", "42": "Abnormal erythrocyte enzyme level", "43": "Partial duplication of the phalanx of hand", "44": "Myositis", "45": "Increased mean corpuscular volume", "46": "Aplasia hypoplasia involving the skeleton", "47": "Abnormal number of erythroid precursors", "48": "Aplasia hypoplasia of the extremities", "49": "Aplastic anemia"} |