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T1 Sex 27 31 male T2 Subject 107 114 Parents T3 Detailed_description 119 132 first cousins R1 MODIFY Arg1:T3 Arg2:T2 T4 Subject 138 145 sibling T5 Family_history 107 132 Parents are first cousins T6 Family_history 65 105 Arab Muslim family of Palestinian origin T7 Personal_background 65 69 Arab T8 Personal_background 70 76 Muslim T9 Personal_background 87 98 Palestinian T10 Outcome 2795 2799 died E1 Outcome:T10 T11 Date 2807 2823 age of 30 months E2 Date:T11 T12 Family_history 134 213 One sibling, a girl died at the age of 1 month due to SIDS according to parents T13 Diagnostic_procedure 276 282 biopsy E3 Diagnostic_procedure:T13 T14 Diagnostic_procedure 293 303 sequencing E4 Diagnostic_procedure:T14 T15 Disease_disorder 455 459 IUGR E5 Disease_disorder:T15 A1 POLARITY E5 UNCERTAIN #1 AnnotatorNotes E5 Intrauterine growth restriction T16 Diagnostic_procedure 529 534 Apgar E6 Diagnostic_procedure:T16 T17 Lab_value 542 543 9 E7 Lab_value:T17 T18 Lab_value 548 550 10 E8 Lab_value:T18 R2 MODIFY Arg1:E7 Arg2:E6 R3 MODIFY Arg1:E8 Arg2:E6 T19 Diagnostic_procedure 552 564 Birth weight E9 Diagnostic_procedure:T19 T20 Lab_value 569 575 2.3 kg E10 Lab_value:T20 T21 Lab_value 577 592 10th percentile E11 Lab_value:T21 R4 MODIFY Arg1:E10 Arg2:E9 R5 MODIFY Arg1:E11 Arg2:E9 T22 Diagnostic_procedure 598 616 head circumference E12 Diagnostic_procedure:T22 T23 Lab_value 617 622 32 cm E13 Lab_value:T23 T24 Lab_value 624 639 10th percentile E14 Lab_value:T24 R6 MODIFY Arg1:E13 Arg2:E12 R7 MODIFY Arg1:E14 Arg2:E12 T25 Diagnostic_procedure 642 655 Physical exam E15 Diagnostic_procedure:T25 T26 Clinical_event 662 667 birth E16 Clinical_event:T26 T27 Sign_symptom 680 695 systolic murmur E17 Sign_symptom:T27 T28 Lab_value 696 699 3/6 E18 Lab_value:T28 R8 MODIFY Arg1:E18 Arg2:E17 T29 Family_history 41 53 fourth child T30 Detailed_description 287 292 exome R9 MODIFY Arg1:T30 Arg2:E4 * OVERLAP E3 E4 T31 Biological_structure 271 275 skin T32 Biological_structure 263 269 muscle R10 MODIFY Arg1:T31 Arg2:E3 R11 MODIFY Arg1:T32 Arg2:E3 R12 AFTER Arg1:E4 Arg2:E5 T33 Clinical_event 468 477 delivered E19 Clinical_event:T33 T34 Therapeutic_procedure 481 497 Cesarian section E20 Therapeutic_procedure:T34 T35 Date 501 523 36+2 gestational weeks E21 Date:T35 R13 BEFORE Arg1:E5 Arg2:E19 * OVERLAP E19 E20 E21 R14 BEFORE Arg1:E21 Arg2:E6 * OVERLAP E6 E9 E12 E15 R15 AFTER Arg1:E15 Arg2:E16 R16 BEFORE Arg1:E16 Arg2:E17 T36 Date 708 725 first day of life E22 Date:T36 T37 Disease_disorder 749 767 metabolic acidosis E23 Disease_disorder:T37 T38 Diagnostic_procedure 773 780 lactate E24 Diagnostic_procedure:T38 T39 Lab_value 790 795 27 mm E25 Lab_value:T39 R17 MODIFY Arg1:E25 Arg2:E24 T40 Diagnostic_procedure 835 842 ammonia E26 Diagnostic_procedure:T40 T41 Lab_value 826 834 elevated E27 Lab_value:T41 T42 Lab_value 850 856 277 μm E28 Lab_value:T42 R18 MODIFY Arg1:E28 Arg2:E26 R19 MODIFY Arg1:E27 Arg2:E26 T43 Diagnostic_procedure 882 899 Metabolic work up E29 Diagnostic_procedure:T43 T44 Diagnostic_procedure 914 928 acylcarnitines E30 Diagnostic_procedure:T44 T45 Lab_value 907 913 normal E31 Lab_value:T45 R20 MODIFY Arg1:E31 Arg2:E30 T46 Diagnostic_procedure 939 946 alanine E32 Diagnostic_procedure:T46 T47 Lab_value 930 938 elevated E33 Lab_value:T47 T48 Lab_value 953 960 1400 μm E34 Lab_value:T48 R21 MODIFY Arg1:E34 Arg2:E32 R22 MODIFY Arg1:E33 Arg2:E32 T49 Diagnostic_procedure 989 1002 organic acids E35 Diagnostic_procedure:T49 T50 Detailed_description 983 988 urine R23 MODIFY Arg1:T50 Arg2:E35 T51 Sign_symptom 1040 1047 ketones E36 Sign_symptom:T51 T52 Sign_symptom 1020 1035 lactic acidosis E37 Sign_symptom:T52 R24 SUB_PROCEDURE Arg1:E30 Arg2:E29 R25 SUB_PROCEDURE Arg1:E32 Arg2:E29 R26 SUB_PROCEDURE Arg1:E35 Arg2:E29 T53 Diagnostic_procedure 1055 1060 X-ray E38 Diagnostic_procedure:T53 T54 Biological_structure 1049 1054 Chest R27 MODIFY Arg1:T54 Arg2:E38 T55 Sign_symptom 1070 1082 cardiomegaly E39 Sign_symptom:T55 T56 Diagnostic_procedure 1096 1100 Echo E40 Diagnostic_procedure:T56 T57 Biological_structure 1088 1095 cardiac R28 MODIFY Arg1:T57 Arg2:E40 T58 Sign_symptom 1173 1195 pulmonary hypertension E41 Sign_symptom:T58 T59 Sign_symptom 1151 1168 tricuspid regurge E42 Sign_symptom:T59 #2 AnnotatorNotes E42 tricuspid regurgitation T60 Sign_symptom 1122 1150 left ventricular hypertrophy E43 Sign_symptom:T60 T61 Detailed_description 1110 1121 symmetrical R29 MODIFY Arg1:T61 Arg2:E43 T62 Clinical_event 1213 1224 transported E44 Clinical_event:T62 T63 Nonbiological_location 1232 1236 NICU R30 MODIFY Arg1:T63 Arg2:E44 T64 Medication 1254 1265 bicarbonate E45 Medication:T64 T65 Medication 1267 1274 acetate E46 Medication:T65 T66 Medication 1279 1288 diuretics E47 Medication:T66 T67 Date 1304 1310 4 days E48 Date:T67 T68 Diagnostic_procedure 1330 1336 biopsy E49 Diagnostic_procedure:T68 T69 Biological_structure 1312 1329 quadriceps muscle R31 MODIFY Arg1:T69 Arg2:E49 T70 Diagnostic_procedure 1352 1361 Pathology E50 Diagnostic_procedure:T70 T71 Diagnostic_procedure 1379 1405 cytochrome c oxidase stain E51 Diagnostic_procedure:T71 T72 Lab_value 1369 1378 decreased E52 Lab_value:T72 R32 MODIFY Arg1:E52 Arg2:E51 R33 SUB_PROCEDURE Arg1:E51 Arg2:E50 T73 Diagnostic_procedure 1413 1423 ultrasound E53 Diagnostic_procedure:T73 T74 Biological_structure 1407 1412 Brain R34 MODIFY Arg1:T74 Arg2:E53 T75 Date 1441 1447 5 days E54 Date:T75 T76 Lab_value 1452 1458 normal E55 Lab_value:T76 R35 MODIFY Arg1:E55 Arg2:E53 T77 Diagnostic_procedure 1474 1492 head circumference E56 Diagnostic_procedure:T77 T78 Date 1535 1542 35 days E57 Date:T78 T79 Lab_value 1493 1505 grew rapidly E58 Lab_value:T79 T80 Lab_value 1506 1527 adding 13 centimeters E59 Lab_value:T80 R36 MODIFY Arg1:E58 Arg2:E56 R37 MODIFY Arg1:E59 Arg2:E56 T81 Diagnostic_procedure 1559 1561 US E60 Diagnostic_procedure:T81 #3 AnnotatorNotes E60 ultrasound T82 Biological_structure 1553 1558 brain R38 MODIFY Arg1:T82 Arg2:E60 T83 Sign_symptom 1571 1578 dilated E61 Sign_symptom:T83 T84 Biological_structure 1579 1589 ventricles R39 MODIFY Arg1:T84 Arg2:E61 T85 Biological_structure 1603 1607 head T86 Diagnostic_procedure 1608 1610 CT E62 Diagnostic_procedure:T86 R40 MODIFY Arg1:T85 Arg2:E62 T87 Sign_symptom 1668 1678 hemorrhage E63 Sign_symptom:T87 T88 Biological_structure 1630 1641 subcortical T89 Biological_structure 1646 1667 white matter cortical R41 MODIFY Arg1:T88 Arg2:E63 R42 MODIFY Arg1:T89 Arg2:E63 T90 Biological_structure 1686 1702 occipital region R43 MODIFY Arg1:T90 Arg2:E63 T91 Date 1707 1715 15 weeks E64 Date:T91 T92 Therapeutic_procedure 1745 1750 shunt E65 Therapeutic_procedure:T92 T93 Detailed_description 1719 1739 ventriculoperitoneal T94 Detailed_description 1741 1743 VP R44 IDENTICAL Arg1:T94 Arg2:T93 R45 MODIFY Arg1:T93 Arg2:E65 T95 Diagnostic_procedure 1770 1772 CT E66 Diagnostic_procedure:T95 T96 Biological_structure 1765 1769 Head R46 MODIFY Arg1:T96 Arg2:E66 T97 Date 1790 1797 2 years E67 Date:T97 T98 Sign_symptom 1815 1825 dilatation E68 Sign_symptom:T98 T99 Biological_structure 1833 1843 ventricles R47 MODIFY Arg1:T99 Arg2:E68 T100 Disease_disorder 1863 1872 hypotonia E69 Disease_disorder:T100 T101 Disease_disorder 1878 1898 feeding difficulties E70 Disease_disorder:T101 T102 Disease_disorder 1913 1924 aspirations E71 Disease_disorder:T102 T103 Detailed_description 1903 1912 recurrent R48 MODIFY Arg1:T103 Arg2:E71 T104 Diagnostic_procedure 2017 2028 examination E72 Diagnostic_procedure:T104 T105 Biological_structure 2013 2016 Eye R49 MODIFY Arg1:T105 Arg2:E72 T106 Date 2043 2051 15 weeks E73 Date:T106 T107 Therapeutic_procedure 1970 1982 feeding tube E74 Therapeutic_procedure:T107 T108 Detailed_description 1965 1968 PEG T109 Detailed_description 1928 1963 percutaneous endoscopic gastrostomy R50 MODIFY Arg1:T108 Arg2:E74 R51 IDENTICAL Arg1:T109 Arg2:T108 T110 Date 2003 2011 10 weeks E75 Date:T110 T111 Diagnostic_procedure 2081 2093 Hearing test E76 Diagnostic_procedure:T111 T112 Diagnostic_procedure 2094 2097 ABR E77 Diagnostic_procedure:T112 R52 SUB_PROCEDURE Arg1:E77 Arg2:E76 T113 Lab_value 2102 2108 normal E78 Lab_value:T113 R53 MODIFY Arg1:E78 Arg2:E77 T114 Diagnostic_procedure 2127 2131 Echo E79 Diagnostic_procedure:T114 T115 Biological_structure 2119 2126 cardiac R54 MODIFY Arg1:T115 Arg2:E79 T116 Sign_symptom 2155 2172 tricuspid regurge E80 Sign_symptom:T116 T117 Severity 2150 2154 mild R55 MODIFY Arg1:T117 Arg2:E80 T118 Severity 2174 2178 mild T119 Sign_symptom 2179 2207 left ventricular hypertrophy E81 Sign_symptom:T119 T120 Sign_symptom 2209 2212 LVH E82 Sign_symptom:T120 R56 IDENTICAL Arg1:E82 Arg2:E81 T121 Sign_symptom 2218 2240 pulmonary hypertension E83 Sign_symptom:T121 T122 Sign_symptom 2242 2246 PHTN E84 Sign_symptom:T122 R57 IDENTICAL Arg1:E84 Arg2:E83 T123 Date 2255 2275 first months of life E85 Date:T123 T124 Date 2291 2299 4 months E86 Date:T124 T125 Disease_disorder 2348 2362 cardiomyopathy E87 Disease_disorder:T125 T126 Detailed_description 2336 2347 obstructive T127 Detailed_description 2323 2335 hypertrophic R58 MODIFY Arg1:T126 Arg2:E87 R59 MODIFY Arg1:T127 Arg2:E87 T128 Medication 2382 2391 diuretics E88 Medication:T128 T129 Medication 2396 2409 beta blockers E89 Medication:T129 T130 Medication 2420 2444 calcium channel blockers E90 Medication:T130 T131 Diagnostic_procedure 2467 2471 Echo E91 Diagnostic_procedure:T131 T132 Date 2486 2493 2 years E92 Date:T132 T133 Sign_symptom 2522 2525 LVH E93 Sign_symptom:T133 A2 TREND E93 DEC T134 Sign_symptom 2533 2537 PHTN E94 Sign_symptom:T134 A3 POLARITY E94 NEG T135 Medication 2539 2551 Coenzyme Q10 E95 Medication:T135 T136 Dosage 2569 2586 60 mg twice daily R60 MODIFY Arg1:T136 Arg2:E95 T137 Date 2605 2613 4 months E96 Date:T137 T138 Detailed_description 2618 2630 discontinued T139 Subject 2638 2645 parents R61 MODIFY Arg1:T138 Arg2:E95 R62 MODIFY Arg1:T139 Arg2:T138 T140 Duration 2654 2670 following months E97 Duration:T140 T141 Clinical_event 2688 2696 admitted E98 Clinical_event:T141 T142 Nonbiological_location 2718 2726 hospital R63 MODIFY Arg1:T142 Arg2:E98 T143 Disease_disorder 2747 2757 infections E99 Disease_disorder:T143 T144 Biological_structure 2741 2746 chest R64 MODIFY Arg1:T144 Arg2:E99 T145 Disease_disorder 2759 2779 shunt malfunctioning E100 Disease_disorder:T145 T146 Sign_symptom 2784 2790 fevers E101 Sign_symptom:T146 T147 Disease_disorder 2856 2871 febrile illness E102 Disease_disorder:T147 T148 Sign_symptom 2838 2847 hypoxemia E103 Sign_symptom:T148 T149 Severity 2831 2837 severe R65 MODIFY Arg1:T149 Arg2:E103 T150 Disease_disorder 2883 2892 infection E104 Disease_disorder:T150 T151 Sign_symptom 2907 2912 edema E105 Sign_symptom:T151 T152 Biological_structure 2897 2906 pulmonary R66 MODIFY Arg1:T152 Arg2:E105 T153 Biological_structure 2877 2882 chest R67 MODIFY Arg1:T153 Arg2:E104 T154 Therapeutic_procedure 2930 2952 mechanical ventilation E106 Therapeutic_procedure:T154 A4 POLARITY E106 NEG T155 Detailed_description 2922 2929 refused T156 Subject 2914 2921 parents R68 MODIFY Arg1:T156 Arg2:T155 R69 MODIFY Arg1:T155 Arg2:E106 T157 Therapeutic_procedure 2965 2976 reanimation E107 Therapeutic_procedure:T157 T158 Detailed_description 2957 2964 refused R70 MODIFY Arg1:T156 Arg2:T158 R71 MODIFY Arg1:T158 Arg2:E107 A5 POLARITY E107 NEG * OVERLAP E17 E22 E23 E24 E26 E29 E37 E36 E38 E39 E40 E43 E42 E41 R72 BEFORE Arg1:E41 Arg2:E44 R73 BEFORE Arg1:E44 Arg2:E45 * OVERLAP E45 E46 E47 R74 BEFORE Arg1:E47 Arg2:E48 * OVERLAP E48 E49 E50 R75 BEFORE Arg1:E50 Arg2:E53 * OVERLAP E53 E54 R76 BEFORE Arg1:E54 Arg2:E56 * OVERLAP E56 E57 E60 E61 E62 E63 R77 BEFORE Arg1:E63 Arg2:E64 * OVERLAP E64 E65 R78 BEFORE Arg1:E65 Arg2:E66 * OVERLAP E66 E67 E68 R79 AFTER Arg1:E68 Arg2:E69 * OVERLAP E69 E70 E71 R80 BEFORE Arg1:E71 Arg2:E74 * OVERLAP E74 E75 R81 BEFORE Arg1:E75 Arg2:E72 T159 Disease_disorder 2070 2079 blindness E108 Disease_disorder:T159 T160 Biological_structure 2061 2069 cortical R82 MODIFY Arg1:T160 Arg2:E108 * OVERLAP E72 E73 E108 E76 R83 BEFORE Arg1:E76 Arg2:E79 * OVERLAP E79 E80 E81 E83 E85 R84 BEFORE Arg1:E85 Arg2:E86 * OVERLAP E86 E87 R85 BEFORE Arg1:E87 Arg2:E88 * OVERLAP E88 E89 R86 BEFORE Arg1:E89 Arg2:E90 R87 BEFORE Arg1:E90 Arg2:E91 * OVERLAP E91 E92 E93 E94 R88 AFTER Arg1:E94 Arg2:E95 * OVERLAP E95 E96 R89 BEFORE Arg1:E96 Arg2:E97 * OVERLAP E97 E98 E99 E100 E101 T161 Frequency 2697 2710 several times R90 MODIFY Arg1:T161 Arg2:E98 R91 BEFORE Arg1:E101 Arg2:E1 * OVERLAP E1 E2 R92 AFTER Arg1:E2 Arg2:E103 R93 AFTER Arg1:E103 Arg2:E102 * OVERLAP E102 E104 E105 R94 BEFORE Arg1:E105 Arg2:E106 * OVERLAP E106 E107