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T1 Age 3 13 8-year-old T2 Sex 14 17 boy T3 Activity 22 30 referred E1 Activity:T3 T4 Sign_symptom 49 56 fatigue E2 Sign_symptom:T4 T5 Family_history 95 121 non-consanguineous parents T6 Clinical_event 65 69 born E3 Clinical_event:T6 T7 Diagnostic_procedure 78 86 weighing E4 Diagnostic_procedure:T7 T8 Lab_value 87 91 4 kg E5 Lab_value:T8 R1 MODIFY Arg1:E5 Arg2:E4 T9 Medication 3718 3733 insulin detemir E6 Medication:T9 T10 Diagnostic_procedure 1403 1410 lactate E7 Diagnostic_procedure:T10 T11 Detailed_description 1395 1402 Fasting R2 MODIFY Arg1:T11 Arg2:E7 T12 Lab_value 1415 1423 elevated E8 Lab_value:T12 T13 Lab_value 1427 1437 3.8 mmol/L E9 Lab_value:T13 R3 MODIFY Arg1:E8 Arg2:E7 R4 MODIFY Arg1:E9 Arg2:E7 T14 Diagnostic_procedure 1439 1463 Neurological examination E10 Diagnostic_procedure:T14 T15 Lab_value 1475 1499 upper motor neuron signs E11 Lab_value:T15 T16 Biological_structure 1507 1518 lower limbs T17 Detailed_description 1519 1530 bilaterally R5 MODIFY Arg1:T17 Arg2:E11 R6 MODIFY Arg1:T16 Arg2:E11 R7 MODIFY Arg1:E11 Arg2:E10 T18 Diagnostic_procedure 1541 1557 cerebellar signs E12 Diagnostic_procedure:T18 T19 Lab_value 1563 1571 negative E13 Lab_value:T19 R8 MODIFY Arg1:E13 Arg2:E12 R9 SUB_PROCEDURE Arg1:E12 Arg2:E10 T20 Diagnostic_procedure 1573 1576 MRI E14 Diagnostic_procedure:T20 T21 Biological_structure 1584 1589 brain R10 MODIFY Arg1:T21 Arg2:E14 T22 Sign_symptom 1603 1614 volume loss E15 Sign_symptom:T22 T23 Sign_symptom 1627 1637 prominence E16 Sign_symptom:T23 T24 Severity 1620 1626 slight R11 MODIFY Arg1:T24 Arg2:E16 T25 Biological_structure 1645 1661 cerebellar folia R12 MODIFY Arg1:T25 Arg2:E16 T26 Diagnostic_procedure 1748 1770 lactate:pyruvate ratio E17 Diagnostic_procedure:T26 T27 Lab_value 1775 1783 elevated E18 Lab_value:T27 T28 Lab_value 1785 1789 30:1 E19 Lab_value:T28 R13 MODIFY Arg1:E18 Arg2:E17 R14 MODIFY Arg1:E19 Arg2:E17 T29 Diagnostic_procedure 174 180 Height E20 Diagnostic_procedure:T29 T30 Diagnostic_procedure 185 191 weight E21 Diagnostic_procedure:T30 T31 Lab_value 204 208 10th E22 Lab_value:T31 T32 Lab_value 213 217 50th E23 Lab_value:T32 R15 MODIFY Arg1:E22 Arg2:E20 R16 MODIFY Arg1:E23 Arg2:E21 T33 Detailed_description 218 226 centiles R17 MODIFY Arg1:T33 Arg2:E20 R18 MODIFY Arg1:T33 Arg2:E21 T34 Diagnostic_procedure 254 265 examination E24 Diagnostic_procedure:T34 T35 Sign_symptom 290 302 hepatomegaly E25 Sign_symptom:T35 T36 Biological_structure 330 349 right costal margin R19 MODIFY Arg1:T36 Arg2:E25 T37 Distance 313 325 3.5 cm below R20 MODIFY Arg1:T37 Arg2:T36 T38 Diagnostic_procedure 359 380 laboratory evaluation E26 Diagnostic_procedure:T38 T39 Sign_symptom 414 421 anaemia E27 Sign_symptom:T39 T40 Diagnostic_procedure 1325 1330 ALAS2 E28 Diagnostic_procedure:T40 T41 Diagnostic_procedure 1332 1336 ABC7 E29 Diagnostic_procedure:T41 T42 Diagnostic_procedure 1338 1342 FECH E30 Diagnostic_procedure:T42 T43 Diagnostic_procedure 1347 1351 PUS1 E31 Diagnostic_procedure:T43 T44 Diagnostic_procedure 1268 1323 Analysis of several genes responsible for hereditary SA E32 Diagnostic_procedure:T44 R21 SUB_PROCEDURE Arg1:E28 Arg2:E32 R22 SUB_PROCEDURE Arg1:E29 Arg2:E32 R23 SUB_PROCEDURE Arg1:E30 Arg2:E32 R24 SUB_PROCEDURE Arg1:E31 Arg2:E32 T45 Sign_symptom 1374 1393 pathogenic variants E33 Sign_symptom:T45 A1 POLARITY E33 NEG T46 Diagnostic_procedure 1181 1187 copper E34 Diagnostic_procedure:T46 T47 Diagnostic_procedure 1192 1196 lead E35 Diagnostic_procedure:T47 T48 Diagnostic_procedure 1218 1230 blood smears E36 Diagnostic_procedure:T48 T49 Subject 1248 1255 parents T50 Subject 1260 1266 sister T51 Diagnostic_procedure 142 172 early developmental milestones E37 Diagnostic_procedure:T51 T52 Lab_value 135 141 normal E38 Lab_value:T52 R25 MODIFY Arg1:E38 Arg2:E37 T53 Detailed_description 390 402 normochromic T54 Detailed_description 403 413 normocytic R26 MODIFY Arg1:T54 Arg2:E27 R27 MODIFY Arg1:T53 Arg2:E27 T55 Diagnostic_procedure 423 434 haemoglobin E39 Diagnostic_procedure:T55 T56 Lab_value 435 443 7.8 g/dL E40 Lab_value:T56 R28 MODIFY Arg1:E40 Arg2:E39 T57 Diagnostic_procedure 455 478 mean corpuscular volume E41 Diagnostic_procedure:T57 R29 SUB_PROCEDURE Arg1:E39 Arg2:E26 T58 Diagnostic_procedure 480 483 MCV E42 Diagnostic_procedure:T58 R30 IDENTICAL Arg1:E42 Arg2:E41 T59 Lab_value 485 492 85.8 fL E43 Lab_value:T59 R31 MODIFY Arg1:E43 Arg2:E41 R32 SUB_PROCEDURE Arg1:E41 Arg2:E26 T60 Diagnostic_procedure 505 533 mean corpuscular haemoglobin E44 Diagnostic_procedure:T60 T61 Diagnostic_procedure 535 538 MCH E45 Diagnostic_procedure:T61 R33 IDENTICAL Arg1:E45 Arg2:E44 T62 Lab_value 540 547 25.4 pg E46 Lab_value:T62 R34 MODIFY Arg1:E46 Arg2:E44 T63 Sign_symptom 569 581 anisocytosis E47 Sign_symptom:T63 T64 Diagnostic_procedure 583 610 red-cell distribution width E48 Diagnostic_procedure:T64 T65 Diagnostic_procedure 612 615 RDW E49 Diagnostic_procedure:T65 R35 IDENTICAL Arg1:E49 Arg2:E48 R36 SUB_PROCEDURE Arg1:E48 Arg2:E26 T66 Lab_value 617 620 29% E50 Lab_value:T66 R37 MODIFY Arg1:E50 Arg2:E48 T67 Sign_symptom 633 644 Hypochromia E51 Sign_symptom:T67 T68 Sign_symptom 649 658 teardrops E52 Sign_symptom:T68 #1 AnnotatorNotes E52 Teardrop erythrocytes T69 Diagnostic_procedure 677 687 blood film E53 Diagnostic_procedure:T69 T70 Sign_symptom 689 700 Leucopoenia E54 Sign_symptom:T70 T71 Diagnostic_procedure 721 737 white cell count E55 Diagnostic_procedure:T71 T72 Lab_value 738 747 2.9×109/L E56 Lab_value:T72 R38 MODIFY Arg1:E56 Arg2:E55 T73 Diagnostic_procedure 760 771 neutrophils E57 Diagnostic_procedure:T73 T74 Lab_value 772 781 1.7×109/L E58 Lab_value:T74 R39 MODIFY Arg1:E58 Arg2:E57 T75 Diagnostic_procedure 794 805 lymphocytes E59 Diagnostic_procedure:T75 T76 Lab_value 806 815 0.8×109/L E60 Lab_value:T76 R40 MODIFY Arg1:E60 Arg2:E59 T77 Diagnostic_procedure 840 848 aspirate E61 Diagnostic_procedure:T77 T78 Diagnostic_procedure 853 859 biopsy E62 Diagnostic_procedure:T78 T79 Biological_structure 828 839 bone marrow R41 MODIFY Arg1:T79 Arg2:E61 R42 MODIFY Arg1:T79 Arg2:E62 T80 Sign_symptom 871 884 hypercellular E63 Sign_symptom:T80 T81 Biological_structure 885 891 marrow R43 MODIFY Arg1:T81 Arg2:E63 T82 Sign_symptom 897 918 erythroid hyperplasia E64 Sign_symptom:T82 T83 Diagnostic_procedure 923 933 iron stain E65 Diagnostic_procedure:T83 T84 Lab_value 962 1007 50% of erythroblasts were ringed sideroblasts E66 Lab_value:T84 R44 MODIFY Arg1:E66 Arg2:E65 T85 Diagnostic_procedure 1051 1085 fluorescence in situ hybridisation E67 Diagnostic_procedure:T85 T86 Diagnostic_procedure 1016 1028 cytogenetics E68 Diagnostic_procedure:T86 T87 Biological_structure 1009 1015 Marrow R45 MODIFY Arg1:T87 Arg2:E68 T88 Detailed_description 1097 1120 chromosomes 5q, 7 and 8 R46 MODIFY Arg1:T88 Arg2:E67 T89 Diagnostic_procedure 1125 1139 flow cytometry E69 Diagnostic_procedure:T89 T90 Diagnostic_procedure 1157 1173 blast population E70 Diagnostic_procedure:T90 T91 Lab_value 1140 1154 did not detect E71 Lab_value:T91 R47 SUB_PROCEDURE Arg1:E70 Arg2:E69 R48 MODIFY Arg1:E71 Arg2:E70 T92 Lab_value 1202 1208 normal E72 Lab_value:T92 T93 Detailed_description 1175 1180 Serum R49 MODIFY Arg1:T93 Arg2:E34 R50 MODIFY Arg1:T93 Arg2:E35 R51 MODIFY Arg1:E72 Arg2:E35 R52 MODIFY Arg1:E72 Arg2:E34 R53 MODIFY Arg1:E72 Arg2:E36 R54 MODIFY Arg1:T49 Arg2:E36 R55 MODIFY Arg1:T50 Arg2:E36 T94 Diagnostic_procedure 1669 1682 organic acids E73 Diagnostic_procedure:T94 T95 Detailed_description 1663 1668 Urine R56 MODIFY Arg1:T95 Arg2:E73 T96 Diagnostic_procedure 1701 1720 3-methylglutaconate E74 Diagnostic_procedure:T96 T97 Diagnostic_procedure 1725 1742 3-methylglutarate E75 Diagnostic_procedure:T97 T98 Lab_value 1692 1700 elevated E76 Lab_value:T98 R57 MODIFY Arg1:E76 Arg2:E74 R58 MODIFY Arg1:E76 Arg2:E75 T99 Diagnostic_procedure 1799 1805 biopsy E77 Diagnostic_procedure:T99 T100 Biological_structure 1792 1798 Muscle R59 MODIFY Arg1:T100 Arg2:E77 T101 Lab_value 1817 1836 structurally normal E78 Lab_value:T101 R60 MODIFY Arg1:E78 Arg2:E77 T102 Biological_structure 1837 1843 muscle R61 MODIFY Arg1:T102 Arg2:E78 T103 Diagnostic_procedure 1848 1865 biochemical assay E79 Diagnostic_procedure:T103 T104 Diagnostic_procedure 1869 1897 respiratory chain components E80 Diagnostic_procedure:T104 R62 SUB_PROCEDURE Arg1:E80 Arg2:E79 T105 Disease_disorder 1933 1954 complex IV deficiency E81 Disease_disorder:T105 T106 Detailed_description 1925 1932 partial R63 MODIFY Arg1:T106 Arg2:E81 T107 Therapeutic_procedure 1984 1997 high-fat diet E82 Therapeutic_procedure:T107 T108 Medication 2002 2012 coenzyme Q E83 Medication:T108 T109 Diagnostic_procedure 2045 2051 energy E84 Diagnostic_procedure:T109 T110 Lab_value 2030 2041 improvement E85 Lab_value:T110 R64 MODIFY Arg1:E85 Arg2:E84 T111 Diagnostic_procedure 2607 2623 Thyroid function E86 Diagnostic_procedure:T111 T112 Lab_value 2628 2634 normal E87 Lab_value:T112 R65 MODIFY Arg1:E87 Arg2:E86 T113 Diagnostic_procedure 2254 2265 Haemoglobin E88 Diagnostic_procedure:T113 T114 Lab_value 2273 2277 fell E89 Lab_value:T114 T115 Lab_value 2281 2289 4.4 g/dL E90 Lab_value:T115 R66 MODIFY Arg1:E89 Arg2:E88 R67 MODIFY Arg1:E90 Arg2:E88 T116 Therapeutic_procedure 2352 2364 transfusions E91 Therapeutic_procedure:T116 T117 Detailed_description 2343 2351 red cell R68 MODIFY Arg1:T117 Arg2:E91 T118 Frequency 2330 2342 three-weekly R69 MODIFY Arg1:T118 Arg2:E91 T119 Detailed_description 2302 2312 occasional R70 MODIFY Arg1:T119 Arg2:E91 T120 Therapeutic_procedure 2380 2392 transfusions E92 Therapeutic_procedure:T120 T121 Diagnostic_procedure 2394 2402 ferritin E93 Diagnostic_procedure:T121 T122 Lab_value 2403 2407 rose E94 Lab_value:T122 T123 Lab_value 2411 2420 1700 µg/L E95 Lab_value:T123 R71 MODIFY Arg1:E94 Arg2:E93 R72 MODIFY Arg1:E95 Arg2:E93 T124 Medication 2436 2450 iron chelation E96 Medication:T124 T125 Diagnostic_procedure 2065 2070 mtDNA E97 Diagnostic_procedure:T125 T126 Biological_structure 2074 2084 leucocytes T127 Biological_structure 2089 2095 muscle T128 Diagnostic_procedure 2106 2109 PCR E98 Diagnostic_procedure:T128 R73 MODIFY Arg1:T126 Arg2:E97 R74 MODIFY Arg1:T127 Arg2:E97 T129 Sign_symptom 2127 2135 deletion E99 Sign_symptom:T129 A2 POLARITY E99 NEG R75 SUB_PROCEDURE Arg1:E97 Arg2:E98 T130 Diagnostic_procedure 2457 2471 growth hormone E100 Diagnostic_procedure:T130 T131 Date 2593 2605 age 13 years E101 Date:T131 T132 Lab_value 2550 2560 447 nmol/L E102 Lab_value:T132 T133 Lab_value 2523 2532 30.9 mU/L E103 Lab_value:T133 T134 Sign_symptom 2504 2517 hypoglycaemia E104 Sign_symptom:T134 T136 Diagnostic_procedure 2476 2484 cortisol E105 Diagnostic_procedure:T136 R77 MODIFY Arg1:E103 Arg2:E100 R78 MODIFY Arg1:E102 Arg2:E105 T137 Detailed_description 2452 2456 Peak R79 MODIFY Arg1:T137 Arg2:E100 R80 MODIFY Arg1:T137 Arg2:E105 T138 Detailed_description 2643 2647 peak T139 Diagnostic_procedure 2648 2656 cortisol E106 Diagnostic_procedure:T139 R81 MODIFY Arg1:T138 Arg2:E106 T140 Lab_value 2661 2671 384 nmol/L E107 Lab_value:T140 R82 MODIFY Arg1:E107 Arg2:E106 T141 Medication 2682 2709 adrenocorticotropic hormone E108 Medication:T141 T142 Medication 2711 2715 ACTH E109 Medication:T142 R83 IDENTICAL Arg1:E109 Arg2:E108 T143 Diagnostic_procedure 2737 2751 renin activity E110 Diagnostic_procedure:T143 T144 Lab_value 2756 2764 elevated E111 Lab_value:T144 R84 MODIFY Arg1:E111 Arg2:E110 T145 Lab_value 2768 2778 15 ng/mL/h E112 Lab_value:T145 R85 MODIFY Arg1:E112 Arg2:E110 T146 Diagnostic_procedure 2784 2801 adrenal androgens E113 Diagnostic_procedure:T146 T147 Diagnostic_procedure 2859 2874 steroid profile E114 Diagnostic_procedure:T147 T148 Medication 2933 2947 Hydrocortisone E115 Medication:T148 T149 Medication 2969 2984 fludrocortisone E116 Medication:T149 T150 Sign_symptom 3367 3381 hyperglycaemia E117 Sign_symptom:T150 T151 Dosage 3706 3717 twice daily R86 MODIFY Arg1:T151 Arg2:E6 T152 Diagnostic_procedure 3775 3787 fructosamine E118 Diagnostic_procedure:T152 T153 Lab_value 3788 3798 161 µmol/L E119 Lab_value:T153 R87 MODIFY Arg1:E119 Arg2:E118 T154 Diagnostic_procedure 3752 3769 glycaemic control E120 Diagnostic_procedure:T154 T155 Lab_value 3739 3751 satisfactory E121 Lab_value:T155 R88 MODIFY Arg1:E121 Arg2:E120 T156 Dosage 2948 2964 5 mg twice daily R89 MODIFY Arg1:T156 Arg2:E115 T157 Dosage 2985 2997 100 µg daily R90 MODIFY Arg1:T157 Arg2:E116 T158 Detailed_description 2851 2858 urinary R91 MODIFY Arg1:T158 Arg2:E114 T159 Lab_value 2879 2899 qualitatively normal E122 Lab_value:T159 R92 MODIFY Arg1:E122 Arg2:E114 T160 Diagnostic_procedure 2921 2931 ultrasound E123 Diagnostic_procedure:T160 T161 Biological_structure 2911 2920 abdominal R93 MODIFY Arg1:T161 Arg2:E123 R94 MODIFY Arg1:E122 Arg2:E123 T162 Detailed_description 2730 2736 Plasma R95 MODIFY Arg1:T162 Arg2:E110 T164 Lab_value 2807 2847 below the lower limit of assay detection E124 Lab_value:T164 R97 MODIFY Arg1:E124 Arg2:E113 T163 Diagnostic_procedure 3014 3054 Adrenal autoantibodies to 21-hydroxylase E125 Diagnostic_procedure:T163 T165 Lab_value 3060 3068 negative E126 Lab_value:T165 T166 Diagnostic_procedure 3073 3100 very-long-chain fatty acids E127 Diagnostic_procedure:T166 T167 Lab_value 3106 3112 normal E128 Lab_value:T167 R96 MODIFY Arg1:E128 Arg2:E127 R98 MODIFY Arg1:E126 Arg2:E125 T168 Disease_disorder 3165 3181 Fanconi syndrome E129 Disease_disorder:T168 T169 Biological_structure 3151 3164 renal tubular R99 MODIFY Arg1:T169 Arg2:E129 T170 Sign_symptom 3192 3202 glycosuria E130 Sign_symptom:T170 T171 Sign_symptom 3204 3216 hypokalaemia E131 Sign_symptom:T171 T172 Sign_symptom 3218 3235 hypophosphataemia E132 Sign_symptom:T172 T173 Diagnostic_procedure 3245 3286 maximal tubular reabsorption of phosphate E133 Diagnostic_procedure:T173 T174 Lab_value 3241 3244 low E134 Lab_value:T174 R100 MODIFY Arg1:E134 Arg2:E133 T175 Sign_symptom 3305 3318 aminoaciduria E135 Sign_symptom:T175 T176 Detailed_description 3293 3304 generalised R101 MODIFY Arg1:T176 Arg2:E135 T177 Clinical_event 3392 3401 admission E136 Clinical_event:T177 T178 Therapeutic_procedure 3430 3441 gastrostomy E137 Therapeutic_procedure:T178 T179 Detailed_description 3419 3429 endoscopic T180 Detailed_description 3406 3418 percutaneous R102 MODIFY Arg1:T179 Arg2:E137 R103 MODIFY Arg1:T180 Arg2:E137 T181 Diagnostic_procedure 3462 3473 haemoglobin E138 Diagnostic_procedure:T181 T182 Detailed_description 3453 3461 Glycated R104 MODIFY Arg1:T182 Arg2:E138 T183 Lab_value 3478 3486 elevated E139 Lab_value:T183 T184 Lab_value 3490 3501 62 mmol/mol E140 Lab_value:T184 R105 MODIFY Arg1:E139 Arg2:E138 R106 MODIFY Arg1:E140 Arg2:E138 T185 Lab_value 3503 3507 7.8% E141 Lab_value:T185 R107 MODIFY Arg1:E141 Arg2:E138 T186 Diagnostic_procedure 3523 3540 red cell turnover E142 Diagnostic_procedure:T186 T187 Lab_value 3517 3522 rapid E143 Lab_value:T187 R108 MODIFY Arg1:E143 Arg2:E142 T188 Diagnostic_procedure 3542 3567 Pancreatic autoantibodies E144 Diagnostic_procedure:T188 T189 Lab_value 3573 3581 negative E145 Lab_value:T189 R109 MODIFY Arg1:E145 Arg2:E144 T190 Diagnostic_procedure 3583 3610 glutamic acid decarboxylase E146 Diagnostic_procedure:T190 T191 Diagnostic_procedure 3612 3624 anti-insulin E147 Diagnostic_procedure:T191 T192 Diagnostic_procedure 3626 3646 anti-islet antigen 2 E148 Diagnostic_procedure:T192 T193 Diagnostic_procedure 3651 3683 pancreatic islet cell antibodies E149 Diagnostic_procedure:T193 R110 SUB_PROCEDURE Arg1:E146 Arg2:E144 R111 SUB_PROCEDURE Arg1:E147 Arg2:E144 R112 SUB_PROCEDURE Arg1:E148 Arg2:E144 R113 SUB_PROCEDURE Arg1:E149 Arg2:E144 * OVERLAP E1 E2 R114 AFTER Arg1:E2 Arg2:E3 * OVERLAP E3 E4 R115 BEFORE Arg1:E4 Arg2:E37 R116 BEFORE Arg1:E37 Arg2:E20 * OVERLAP E20 E21 E24 E25 E26 E27 E47 E51 E52 E53 E54 E55 E57 E59 E61 E62 E63 E64 E65 E68 E67 E69 E34 E35 E36 E32 E33 E7 E10 E14 E15 E16 E73 E74 E75 E17 E77 E79 E81 T194 Lab_value 1034 1040 normal E150 Lab_value:T194 R117 MODIFY Arg1:E150 Arg2:E68 R118 BEFORE Arg1:E81 Arg2:E82 * OVERLAP E82 E83 R119 BEFORE Arg1:E83 Arg2:E84 * OVERLAP E84 E97 E99 T195 Medication 2137 2146 Carnitine E151 Medication:T195 T196 Medication 2148 2157 vitamin A E152 Medication:T196 T197 Medication 2159 2167 thiamine E153 Medication:T197 T198 Medication 2169 2179 pyridoxine E154 Medication:T198 T199 Medication 2181 2187 folate E155 Medication:T199 T200 Medication 2192 2199 uridine E156 Medication:T200 T201 Sign_symptom 2245 2252 anaemia E157 Sign_symptom:T201 A3 TREND E157 STAY R120 BEFORE Arg1:E99 Arg2:E151 * OVERLAP E151 E152 E153 E154 E155 E156 R121 BEFORE Arg1:E156 Arg2:E157 * OVERLAP E157 E88 E91 R122 BEFORE Arg1:E91 Arg2:E92 * OVERLAP E92 E93 E96 R123 BEFORE Arg1:E96 Arg2:E100 T135 Medication 2488 2495 insulin E158 Medication:T135 R76 CAUSE Arg1:E158 Arg2:E104 * OVERLAP E100 E105 E158 E104 E101 E86 E106 E108 E110 E113 E114 E123 R124 BEFORE Arg1:E123 Arg2:E115 * OVERLAP E115 E116 E125 E127 R125 BEFORE Arg1:E127 Arg2:E129 * OVERLAP E129 E130 E131 E132 E133 E135 E117 E136 E137 E138 E142 E144 R126 BEFORE Arg1:E144 Arg2:E6 * OVERLAP E6 E120 E118