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T1 Age 18 28 3-year-old T2 Sex 29 33 girl T3 Diagnostic_procedure 65 84 VACTERL association E1 Diagnostic_procedure:T3 T8 Subject 554 564 her father T9 Disease_disorder 626 648 Ehlers–Danlos syndrome E6 Disease_disorder:T9 T10 History 626 648 Ehlers–Danlos syndrome T12 Detailed_description 609 625 hypermobile type R2 MODIFY Arg1:T12 Arg2:E6 T13 Disease_disorder 485 503 limb malformations E8 Disease_disorder:T13 A1 POLARITY E8 NEG T14 Disease_disorder 512 539 other major organ anomalies E9 Disease_disorder:T14 T15 Disease_disorder 474 481;490 503 cardiac malformations E10 Disease_disorder:T15 A2 POLARITY E10 NEG * OVERLAP E10 E8 E1 T16 Disease_disorder 734 747 Ehlers–Danlos E11 Disease_disorder:T16 T17 Detailed_description 717 733 hypermobile type R5 MODIFY Arg1:T17 Arg2:E11 T18 Diagnostic_procedure 2831 2853 DNA Polymerase Gamma 1 E12 Diagnostic_procedure:T18 T19 Diagnostic_procedure 2831 2851;2858 2859 DNA Polymerase Gamma 2 E13 Diagnostic_procedure:T19 T20 Diagnostic_procedure 2861 2866 POLG1 E14 Diagnostic_procedure:T20 T21 Diagnostic_procedure 2871 2876 POLG2 E15 Diagnostic_procedure:T21 R6 IDENTICAL Arg1:E15 Arg2:E13 R7 IDENTICAL Arg1:E14 Arg2:E12 T22 Diagnostic_procedure 2882 2905 Thymidine Phosphorylase E16 Diagnostic_procedure:T22 T23 Diagnostic_procedure 2817 2827 sequencing E17 Diagnostic_procedure:T23 R8 SUB_PROCEDURE Arg1:E13 Arg2:E17 R9 SUB_PROCEDURE Arg1:E13 Arg2:E17 R10 SUB_PROCEDURE Arg1:E16 Arg2:E17 A3 POLARITY E12 NEG A4 POLARITY E13 NEG A5 POLARITY E16 NEG T24 Diagnostic_procedure 2794 2811 genome sequencing E18 Diagnostic_procedure:T24 T25 Biological_structure 2780 2793 mitochondrial T26 Detailed_description 2774 2779 Whole R11 MODIFY Arg1:T26 Arg2:T25 R12 MODIFY Arg1:T25 Arg2:E18 * OVERLAP E18 E17 E21 T27 Diagnostic_procedure 2637 2662 Citrate synthase activity E19 Diagnostic_procedure:T27 T28 Lab_value 2701 2707 normal T29 Diagnostic_procedure 2725 2739 sample quality E20 Diagnostic_procedure:T29 T30 Diagnostic_procedure 2751 2772 mitochondrial content E21 Diagnostic_procedure:T30 T31 Lab_value 2744 2750 normal T32 Lab_value 2720 2724 good R13 MODIFY Arg1:T32 Arg2:E20 R14 MODIFY Arg1:T31 Arg2:E21 T33 Coreference 2678 2695 both ETC analyses E22 Coreference:T33 T34 Diagnostic_procedure 2637 2653;2667 2674 Citrate synthase content E23 Diagnostic_procedure:T34 T35 Diagnostic_procedure 2538 2550 ETC analysis E24 Diagnostic_procedure:T35 T36 Detailed_description 2531 2537 Repeat T37 Biological_structure 2563 2575 mitochondria T38 Detailed_description 2554 2562 isolated R15 MODIFY Arg1:T38 Arg2:T37 R16 MODIFY Arg1:T36 Arg2:E24 R17 MODIFY Arg1:T37 Arg2:E24 T39 Disease_disorder 2614 2635 complex IV deficiency E25 Disease_disorder:T39 T40 Severity 2588 2596 profound T41 Detailed_description 2601 2613 reproducible R18 MODIFY Arg1:T41 Arg2:E25 R19 MODIFY Arg1:T40 Arg2:E25 R20 MODIFY Arg1:E25 Arg2:E24 T42 Diagnostic_procedure 2296 2320;2327 2335 electron transport chain activity E26 Diagnostic_procedure:T42 T43 Diagnostic_procedure 2321 2335 (ETC) activity E27 Diagnostic_procedure:T43 R21 IDENTICAL Arg1:E27 Arg2:E26 T44 Diagnostic_procedure 2392 2402 complex IV E28 Diagnostic_procedure:T44 T45 Diagnostic_procedure 2362 2373 complexes I E29 Diagnostic_procedure:T45 T46 Diagnostic_procedure 2362 2371;2375 2377 complexes II E30 Diagnostic_procedure:T46 T47 Diagnostic_procedure 2362 2371;2383 2386 complexes III E31 Diagnostic_procedure:T47 T48 Lab_value 2343 2349 normal R22 SUB_PROCEDURE Arg1:E29 Arg2:E26 R23 SUB_PROCEDURE Arg1:E30 Arg2:E26 R24 SUB_PROCEDURE Arg1:E31 Arg2:E26 R25 SUB_PROCEDURE Arg1:E28 Arg2:E26 R26 MODIFY Arg1:T48 Arg2:E31 R27 MODIFY Arg1:T48 Arg2:E30 R28 MODIFY Arg1:T48 Arg2:E29 T49 Diagnostic_procedure 2407 2427 cytochrome c oxidase E32 Diagnostic_procedure:T49 R29 IDENTICAL Arg1:E32 Arg2:E28 T50 Lab_value 2442 2464 45.4 lmol/min/g weight R30 MODIFY Arg1:T50 Arg2:E32 T51 Diagnostic_procedure 2123 2129 biopsy E33 Diagnostic_procedure:T51 T52 Biological_structure 2116 2122 Muscle R31 MODIFY Arg1:T52 Arg2:E33 T53 Diagnostic_procedure 2156 2178 fiber size variability E34 Diagnostic_procedure:T53 T54 Lab_value 2144 2152 increase T55 Severity 2139 2143 mild R32 MODIFY Arg1:T55 Arg2:T54 R33 MODIFY Arg1:T54 Arg2:E34 R34 SUB_PROCEDURE Arg1:E34 Arg2:E33 T56 Diagnostic_procedure 2254 2273 electron microscopy E35 Diagnostic_procedure:T56 T58 Age 1820 1836 13 months of age T59 Sign_symptom 1854 1869 muscle weakness E37 Sign_symptom:T59 T60 Detailed_description 1842 1853 progressive R36 MODIFY Arg1:T60 Arg2:E37 T61 Disease_disorder 1871 1894 autonomic dysregulation E38 Disease_disorder:T61 T62 Disease_disorder 1896 1917 hypoglycemic episodes E39 Disease_disorder:T62 T63 Disease_disorder 1919 1950 exocrine pancreatic dysfunction E40 Disease_disorder:T63 T64 Diagnostic_procedure 1967 1992 gastrointestinal function E41 Diagnostic_procedure:T64 T65 Detailed_description 1956 1963 decline R37 MODIFY Arg1:T65 Arg2:E41 T66 Disease_disorder 2070 2082 hyperalgesia E42 Disease_disorder:T66 T67 Biological_structure 2061 2069 visceral R38 MODIFY Arg1:T67 Arg2:E42 T68 Disease_disorder 2084 2095 dysmotility E43 Disease_disorder:T68 T69 Disease_disorder 2101 2114 malabsorption E44 Disease_disorder:T69 T70 Disease_disorder 2033 2053 nutrition dependency E45 Disease_disorder:T70 T71 Severity 2016 2021 total T72 Detailed_description 2022 2032 parenteral R39 MODIFY Arg1:T72 Arg2:E45 R40 MODIFY Arg1:T71 Arg2:T72 T73 Diagnostic_procedure 1165 1169 FISH E46 Diagnostic_procedure:T73 T74 Diagnostic_procedure 907 913 biopsy E47 Diagnostic_procedure:T74 T75 Biological_structure 902 906 Skin R41 MODIFY Arg1:T75 Arg2:E47 T76 Disease_disorder 1021 1043 Ehlers–Danlos syndrome E48 Disease_disorder:T76 T77 Diagnostic_procedure 980 989 mutations E49 Diagnostic_procedure:T77 A7 POLARITY E49 NEG T78 Detailed_description 1006 1017 other forms R42 MODIFY Arg1:T78 Arg2:E48 T79 Biological_structure 948 964 peripheral blood T80 Diagnostic_procedure 937 944 testing E50 Diagnostic_procedure:T80 R43 MODIFY Arg1:T79 Arg2:E50 A8 POLARITY E47 NEG T81 Texture 837 841 soft T82 Texture 843 850 fragile T83 Lab_value 832 836 very R44 MODIFY Arg1:T83 Arg2:T81 R45 MODIFY Arg1:T83 Arg2:T82 T84 Biological_structure 851 855 skin R46 MODIFY Arg1:T81 Arg2:T84 R47 MODIFY Arg1:T82 Arg2:T84 T85 Detailed_description 861 877 unusual scarring R48 MODIFY Arg1:T85 Arg2:T84 T86 Detailed_description 888 900 skin healing T87 Lab_value 883 887 poor R49 MODIFY Arg1:T87 Arg2:T86 R50 MODIFY Arg1:T86 Arg2:T84 T88 Diagnostic_procedure 1045 1064 Microarray analysis E51 Diagnostic_procedure:T88 T89 Biological_structure 1117 1123 4q35.1 #1 AnnotatorNotes T89 Chromosome location T90 Diagnostic_procedure 1105 1113 deletion E52 Diagnostic_procedure:T90 T91 Detailed_description 1084 1104 maternally-inherited R51 MODIFY Arg1:T91 Arg2:E52 R52 MODIFY Arg1:T89 Arg2:E52 R53 SUB_PROCEDURE Arg1:E52 Arg2:E51 T92 Diagnostic_procedure 1138 1147 one clone E53 Diagnostic_procedure:T92 T93 Disease_disorder 775 788 hypermobility E54 Disease_disorder:T93 T94 Diagnostic_procedure 801 829 Beighton hypermobility scale E55 Diagnostic_procedure:T94 T95 Lab_value 790 793 9/9 R54 MODIFY Arg1:T95 Arg2:E55 R55 MODIFY Arg1:E55 Arg2:E54 T96 Disease_disorder 1785 1810 mitochondrial dysfunction E56 Disease_disorder:T96 T97 Diagnostic_procedure 1214 1252 180K custom oligonucleotide microarray E57 Diagnostic_procedure:T97 T98 Nonbiological_location 1254 1310 Baylor College of Medicine Medical Genetics Laboratories T99 Lab_value 1353 1376 maximum size of 1.37 Mb T100 Lab_value 218 223 three T101 Subject 1707 1717 her mother T104 Detailed_description 1719 1755 from whom the deletion was inherited R57 MODIFY Arg1:T104 Arg2:T101 T105 Diagnostic_procedure 1599 1605 CYP4V2 E59 Diagnostic_procedure:T105 T106 Diagnostic_procedure 1607 1612 KLKB2 E60 Diagnostic_procedure:T106 T107 Diagnostic_procedure 1614 1617 F11 E61 Diagnostic_procedure:T107 T108 Diagnostic_procedure 1619 1626 MTRNR1A E62 Diagnostic_procedure:T108 T109 Diagnostic_procedure 1632 1636 FAT1 E63 Diagnostic_procedure:T109 * OVERLAP E62 E61 E60 E59 T4 Biological_structure 120 136 lumbar vertebrae T5 Biological_structure 93 104 C1 vertebra T110 Detailed_description 86 92 absent T111 Detailed_description 106 119 supernumerary R58 MODIFY Arg1:T110 Arg2:T5 R59 MODIFY Arg1:T111 Arg2:T4 T6 Biological_structure 150 156 sacrum T112 Biological_structure 157 163 coccyx T113 Detailed_description 138 149 hypoplastic R60 MODIFY Arg1:T113 Arg2:T6 R61 MODIFY Arg1:T113 Arg2:T112 T114 Biological_structure 171 186 filum terminale T115 Biological_structure 201 212 spinal cord T116 Biological_structure 230 234 ribs T117 Detailed_description 224 229 fused R62 MODIFY Arg1:T117 Arg2:T116 R63 MODIFY Arg1:T100 Arg2:T116 T118 Detailed_description 192 200 tethered T119 Detailed_description 165 170 fatty R64 MODIFY Arg1:T119 Arg2:T114 R65 MODIFY Arg1:T118 Arg2:T115 T7 Disease_disorder 239 261 anorectal malformation E2 Disease_disorder:T7 T11 Biological_structure 274 280 cloaca T120 Biological_structure 334 340 vagina T121 Biological_structure 304 320 urogenital sinus T122 Detailed_description 297 303 common R1 MODIFY Arg1:T122 Arg2:T121 T123 Detailed_description 327 333 duplex R4 MODIFY Arg1:T123 Arg2:T120 T124 Detailed_description 346 360 midline septum R66 MODIFY Arg1:T124 Arg2:T120 T125 Disease_disorder 369 379 TE fistula E3 Disease_disorder:T125 T126 Detailed_description 362 368 type C R67 MODIFY Arg1:T126 Arg2:E3 T127 Disease_disorder 393 401 agenesis E4 Disease_disorder:T127 T128 Biological_structure 381 392 right renal R68 MODIFY Arg1:T128 Arg2:E4 T129 Disease_disorder 421 435 hydronephrosis E5 Disease_disorder:T129 T130 Disease_disorder 440 461 vesicoureteral reflux E7 Disease_disorder:T130 T131 Severity 407 415 moderate T132 Detailed_description 416 420 left R69 MODIFY Arg1:T132 Arg2:E5 R70 MODIFY Arg1:T131 Arg2:E5 R71 MODIFY Arg1:T5 Arg2:E1 R72 MODIFY Arg1:T4 Arg2:E1 R73 MODIFY Arg1:T6 Arg2:E1 R74 MODIFY Arg1:T112 Arg2:E1 R75 MODIFY Arg1:T114 Arg2:E1 R76 MODIFY Arg1:T115 Arg2:E1 R77 MODIFY Arg1:T116 Arg2:E1 R78 MODIFY Arg1:E2 Arg2:E1 R79 MODIFY Arg1:T11 Arg2:E2 R80 MODIFY Arg1:T121 Arg2:T11 R81 MODIFY Arg1:T120 Arg2:T11 R82 MODIFY Arg1:E3 Arg2:E1 R83 MODIFY Arg1:E4 Arg2:E1 R84 BEFORE Arg1:E5 Arg2:E1 R85 MODIFY Arg1:E7 Arg2:E1 A9 POLARITY E9 NEG R86 BEFORE Arg1:E10 Arg2:E9 R87 MODIFY Arg1:E54 Arg2:E11 R88 MODIFY Arg1:T84 Arg2:E11 R89 MODIFY Arg1:T86 Arg2:E11 * OVERLAP E11 E47 E50 E9 R90 SUB_PROCEDURE Arg1:E49 Arg2:E50 R91 MODIFY Arg1:E48 Arg2:E49 * OVERLAP E48 E51 R92 SUB_PROCEDURE Arg1:E53 Arg2:E52 R93 SUB_PROCEDURE Arg1:E46 Arg2:E52 T133 Diagnostic_procedure 1170 1183 (RP11-173M11) E64 Diagnostic_procedure:T133 R94 IDENTICAL Arg1:E64 Arg2:E46 R95 BEFORE Arg1:E64 Arg2:E57 R96 MODIFY Arg1:T98 Arg2:E57 T134 Diagnostic_procedure 1383 1392 karyotype E65 Diagnostic_procedure:T134 T135 Detailed_description 1404 1459 46,XX,arr cgh 4q35.1q35.2 (187,321-768-188,694-589) 3 1 R97 MODIFY Arg1:T135 Arg2:E65 R98 SUB_PROCEDURE Arg1:E65 Arg2:E57 T136 Diagnostic_procedure 1324 1347 deleted region deletion E66 Diagnostic_procedure:T136 R99 MODIFY Arg1:T99 Arg2:E66 R100 SUB_PROCEDURE Arg1:E66 Arg2:E57 * OVERLAP E53 E46 T137 Diagnostic_procedure 1461 1466 Genes E67 Diagnostic_procedure:T137 T138 Detailed_description 1474 1488 deleted region R101 MODIFY Arg1:T138 Arg2:E67 R102 SUB_PROCEDURE Arg1:E59 Arg2:E67 R103 SUB_PROCEDURE Arg1:E60 Arg2:E67 R104 SUB_PROCEDURE Arg1:E61 Arg2:E67 R105 SUB_PROCEDURE Arg1:E62 Arg2:E67 R106 SUB_PROCEDURE Arg1:E63 Arg2:E67 T103 Disease_disorder 1760 1770 unaffected E68 Disease_disorder:T103 A10 POLARITY E68 NEG T139 Family_history 1760 1770 unaffected R56 MODIFY Arg1:E68 Arg2:T101 R107 AFTER Arg1:E67 Arg2:E56 R108 MODIFY Arg1:E37 Arg2:E56 * OVERLAP E37 E38 E39 E40 E41 R109 BEFORE Arg1:E41 Arg2:E45 R110 CAUSE Arg1:E42 Arg2:E45 R111 CAUSE Arg1:E43 Arg2:E45 R112 CAUSE Arg1:E44 Arg2:E45 * OVERLAP E42 E43 E44 E33 R113 MODIFY Arg1:E41 Arg2:E56 R114 MODIFY Arg1:E40 Arg2:E56 R115 MODIFY Arg1:E39 Arg2:E56 R116 MODIFY Arg1:E38 Arg2:E56 R117 MODIFY Arg1:E37 Arg2:E56 T57 Diagnostic_procedure 2186 2200 other findings E36 Diagnostic_procedure:T57 A6 POLARITY E36 NEG T102 Detailed_description 2201 2238 consistent with mitochondrial disease R35 MODIFY Arg1:T102 Arg2:E36 R118 SUB_PROCEDURE Arg1:E35 Arg2:E36 R119 SUB_PROCEDURE Arg1:E36 Arg2:E33 * OVERLAP E34 E36 * OVERLAP E35 E26 T140 Detailed_description 2466 2494 well below the control range R120 MODIFY Arg1:T140 Arg2:T50 * OVERLAP E32 E24 * OVERLAP E25 E19 R121 IDENTICAL Arg1:E22 Arg2:E27 R122 IDENTICAL Arg1:E22 Arg2:E24 R123 SUB_PROCEDURE Arg1:E23 Arg2:E22 R124 SUB_PROCEDURE Arg1:E19 Arg2:E22 R125 MODIFY Arg1:T28 Arg2:E19 R126 MODIFY Arg1:T28 Arg2:E23 R127 SUB_PROCEDURE Arg1:E20 Arg2:E22 R128 SUB_PROCEDURE Arg1:E21 Arg2:E22 T141 Family_history 626 648 Ehlers–Danlos syndrome R3 MODIFY Arg1:E6 Arg2:T8 T142 Other_entity 546 549 she #2 AnnotatorNotes T142 Patient herself R129 MODIFY Arg1:E6 Arg2:T142