| {"0": "Holoprosencephaly", "1": "Pierre robin sequence", "2": "Thyroiditis", "3": "Large earlobe", "4": "Abnormality of male internal genitalia", "5": "Impaired antigen specific response", "6": "Embryonal renal neoplasm", "7": "Deviation of the thumb", "8": "Abnormality of the pulmonary veins", "9": "Severe infection", "10": "Abnormal cd4 cd8 ratio", "11": "Gastrointestinal atresia", "12": "Joint contractures involving the joints of the feet", "13": "Vasculitis", "14": "Abnormal vena cava morphology", "15": "Esophageal atresia", "16": "Panniculitis", "17": "Neutropenia in presence of anti neutropil antibodies", "18": "Mild global developmental delay", "19": "Autoimmune hemolytic anemia", "20": "Aplasia hypoplasia of the fibula", "21": "Autoimmune antibody positivity", "22": "Abnormal erythrocyte sedimentation rate", "23": "Pterygium", "24": "Abnormal serum interferon level", "25": "Abnormality of immune serum protein physiology", "26": "Congenital malformation of the right heart", "27": "Metatarsus adductus", "28": "Recurrent viral infections", "29": "Multicystic kidney dysplasia", "30": "Adenocarcinoma of the colon", "31": "Erythroid hypoplasia", "32": "Colpocephaly", "33": "Abnormality of the thenar eminence", "34": "Decreased lacrimation", "35": "Dyscalculia", "36": "Aplastic anemia", "37": "Abnormal number of erythroid precursors", "38": "Malignant genitourinary tract tumor", "39": "Pure red cell aplasia", "40": "Decreased fertility in males", "41": "Abnormal b cell morphology", "42": "Depressed nasal ridge", "43": "Abnormal morphology of the radius", "44": "Wormian bones", "45": "Persistence of hemoglobin f", "46": "Abnormal eyelid morphology", "47": "Prominent nose", "48": "Genital neoplasm", "49": "Large beaked nose"} |