└── standoff ├── train ├── 10545613.ann ├── 2055114.ann ├── 10094552.ann ├── 6453040.ann ├── 6540752.ann ├── 7390473.ann ├── 10827109.ann ├── 10958786.ann ├── 10220405.ann ├── 10590055.ann ├── 10875918.ann ├── 10528853.ann ├── 10425038.ann ├── 1146783.ann ├── 1673289.ann ├── 2209091.ann ├── 10472529.ann ├── 1769645.ann ├── 3198117.ann ├── 8408659.ann ├── 10724160.ann ├── 7951316.ann ├── 8566965.ann ├── 1222588.ann ├── 2071157.ann ├── 1707231.ann ├── 8575748.ann ├── 1999339.ann ├── 3572301.ann ├── 1303171.ann ├── 8244393.ann ├── 1352883.ann ├── 8111379.ann ├── 8466512.ann ├── 7663517.ann ├── 8440142.ann ├── 1347968.ann ├── 3032521.ann ├── 3422216.ann ├── 1975560.ann ├── 2989709.ann ├── 10426999.ann ├── 10874302.ann ├── 1301201.ann ├── 2817003.ann ├── 7316485.ann ├── 1678319.ann ├── 1833974.ann ├── 8098245.ann ├── 10724175.ann ├── 7894491.ann ├── 10408771.ann ├── 7825578.ann ├── 10381492.ann ├── 7586656.ann ├── 7076260.ann ├── 511159.ann ├── 7450778.ann ├── 7568002.ann ├── 7490097.ann ├── 8477262.ann ├── 10210128.ann ├── 10557309.ann ├── 116187.ann ├── 1384324.ann ├── 2569949.ann ├── 2760209.ann ├── 8113388.ann ├── 7795596.ann ├── 1301190.ann ├── 10911990.ann ├── 161677.ann ├── 2393028.ann ├── 2563633.ann ├── 2927388.ann ├── 10094559.ann ├── 10330348.ann ├── 3346017.ann ├── 492335.ann ├── 7191069.txt ├── 7535801.ann ├── 1345170.ann ├── 2404853.ann ├── 624546.ann ├── 8307570.ann ├── 3346018.txt ├── 3563511.ann ├── 1301189.ann ├── 144081.ann ├── 2835825.ann ├── 7630639.ann ├── 10777718.ann ├── 10790204.ann ├── 122435.ann ├── 1376553.ann ├── 10198641.ann ├── 1301146.ann ├── 10533068.ann ├── 1301187.ann ├── 1307253.ann ├── 1676565.ann ├── 3856322.ann ├── 7545954.ann ├── 7761412.ann ├── 7802009.ann ├── 3377761.ann ├── 7959767.ann ├── 8571953.ann ├── 10746568.ann ├── 102474.ann ├── 1201235.ann ├── 3362213.ann ├── 7668252.ann ├── 10519880.ann ├── 10943845.ann ├── 126380.ann ├── 10085150.ann ├── 3346018.ann ├── 8259519.ann ├── 1505217.ann ├── 10543403.ann ├── 1302022.ann ├── 1303173.ann ├── 1831007.txt ├── 3417303.ann ├── 1610789.ann ├── 2571579.ann ├── 2575483.ann ├── 10712225.ann ├── 2450401.ann ├── 7795591.ann ├── 10830915.ann ├── 1307245.ann ├── 2910902.ann ├── 3464560.ann ├── 7962532.ann ├── 10541953.ann ├── 1939657.ann ├── 3674116.ann ├── 7874163.ann ├── 8533768.ann ├── 1127526.ann ├── 2016095.ann ├── 2601691.ann ├── 3678494.ann ├── 7951327.ann ├── 10947987.ann ├── 8370681.ann ├── 10557317.ann ├── 2703233.ann ├── 7894493.ann ├── 10631148.ann ├── 10078749.ann ├── 2220826.ann ├── 7767095.ann ├── 7964884.ann ├── 10021369.ann ├── 1999552.txt ├── 2006152.ann ├── 2253938.ann ├── 7202134.ann ├── 10466420.ann ├── 1307230.ann ├── 1483696.ann ├── 1733838.ann ├── 8326491.ann ├── 8554067.ann ├── 10078749.txt ├── 1319059.ann ├── 2912069.ann ├── 3659917.ann ├── 1424237.txt ├── 6902670.ann ├── 7769092.ann ├── 10698963.ann ├── 1301937.ann ├── 2404853.txt ├── 2862466.ann ├── 8281142.ann ├── 10888879.ann ├── 1973404.ann ├── 6086495.ann ├── 8375105.ann ├── 10502833.ann ├── 2562820.ann ├── 7762560.ann ├── 10891444.ann ├── 8101038.ann ├── 8195156.ann ├── 1679035.ann ├── 8187068.ann ├── 10426139.ann ├── 10441343.ann ├── 1282899.ann ├── 1353340.ann ├── 1562739.ann ├── 7493024.ann ├── 7607677.ann ├── 1279971.ann ├── 133535.ann ├── 1717985.ann ├── 1731805.ann ├── 7316485.txt ├── 10449429.ann ├── 1302032.ann ├── 2544995.ann ├── 7550229.ann ├── 8346255.ann ├── 10205262.ann ├── 10827108.ann ├── 2390095.ann ├── 3012567.ann ├── 1323345.ann ├── 3876122.ann ├── 10200300.ann ├── 6387532.ann ├── 8434621.ann ├── 1146783.txt ├── 2792129.ann ├── 8401501.ann ├── 10932179.ann ├── 2817003.txt ├── 6783144.txt ├── 7481765.ann ├── 10915776.ann ├── 3862128.ann ├── 8002973.ann ├── 8071955.ann ├── 10077651.ann ├── 10330430.ann ├── 1424237.ann ├── 7599636.ann ├── 8098180.ann ├── 8162051.ann ├── 8281152.ann ├── 10083734.ann ├── 10377440.ann ├── 10767313.ann ├── 1315306.ann ├── 8477262.txt ├── 10382909.ann ├── 7795653.ann ├── 8258524.ann ├── 10976074.ann ├── 1671881.ann ├── 3565372.ann ├── 3615198.ann ├── 10417279.ann ├── 10721669.ann ├── 10747931.ann ├── 1301938.ann ├── 1409710.ann ├── 2253937.ann ├── 2651669.ann ├── 3674116.txt ├── 8004674.ann ├── 1303277.ann ├── 6101415.ann ├── 8471773.ann ├── 10737980.ann ├── 10767343.ann ├── 1303170.ann ├── 6618488.ann ├── 7191069.ann ├── 7767095.txt ├── 10487710.ann ├── 2037285.ann ├── 6783144.ann ├── 7390473.txt ├── 7444053.ann ├── 8128954.ann ├── 10709732.ann ├── 1707231.txt ├── 3347839.ann ├── 8317477.ann ├── 10366443.ann ├── 10369870.ann ├── 10699184.ann ├── 1302008.ann ├── 2309142.ann ├── 2703233.txt ├── 3455778.ann ├── 6540752.txt ├── 10594001.ann ├── 1338906.ann ├── 2450401.txt ├── 7586656.txt ├── 1322637.ann ├── 1327525.ann ├── 1733838.txt ├── 7076260.txt ├── 7652577.ann ├── 8434621.txt ├── 8551426.ann ├── 1346773.ann ├── 3524231.ann ├── 8023850.ann ├── 313733.ann ├── 8178825.ann ├── 1671851.ann ├── 1684088.ann ├── 1709636.ann ├── 10364525.ann ├── 1968617.ann ├── 3789016.ann ├── 409732.ann ├── 7106752.ann ├── 7450778.txt ├── 10612394.ann ├── 10633128.ann ├── 10090890.ann ├── 10364518.ann ├── 1776638.txt ├── 6902670.txt ├── 8198124.ann ├── 8279472.ann ├── 7437512.ann ├── 8075631.ann ├── 8533762.ann ├── 10797418.ann ├── 10814710.ann └── 1999552.ann ├── devel ├── 8678979.ann ├── 8700509.ann ├── 8944024.ann ├── 9245987.ann ├── 8589722.ann ├── 8845838.ann ├── 8825599.ann ├── 8790412.ann ├── 8605116.ann ├── 9138149.ann ├── 8956035.ann ├── 9218625.ann ├── 9069115.ann ├── 8661102.ann ├── 8944023.ann ├── 9050866.ann ├── 8692963.ann ├── 8929413.ann ├── 8674108.ann ├── 9020847.ann ├── 9050868.ann ├── 8786135.ann ├── 8938427.ann ├── 9012409.ann ├── 8625410.ann ├── 8776595.ann ├── 9122265.ann ├── 8917548.ann ├── 8651278.ann ├── 8644703.ann ├── 8843193.ann ├── 8666397.ann ├── 8595416.ann ├── 8696339.ann ├── 8682510.ann ├── 9182899.ann ├── 8670333.ann ├── 8833159.ann ├── 8812423.ann ├── 8622978.ann ├── 8723064.ann ├── 9223312.ann ├── 8755645.ann ├── 8621452.ann ├── 8808605.ann ├── 8808606.ann ├── 9223307.ann ├── 9144525.ann ├── 8678979.txt ├── 8649785.ann ├── 8825052.ann ├── 8755918.ann ├── 8871666.ann ├── 9028321.ann └── 8689689.ann └── test ├── 9463318.ann ├── 9465301.ann ├── 9703501.ann ├── 9536083.ann ├── 9342365.ann ├── 9714764.ann ├── 9554743.ann ├── 9856499.ann ├── 9465039.ann ├── 9774970.ann ├── 9790667.ann ├── 9733027.ann ├── 9457913.ann ├── 9590178.ann ├── 9546397.ann ├── 9671401.ann ├── 9382108.ann ├── 9294109.ann ├── 9358014.ann ├── 9443866.ann ├── 9391879.ann ├── 9425228.ann ├── 9831355.ann ├── 9856498.ann ├── 9590284.ann ├── 9600235.ann ├── 9420335.ann ├── 9563950.ann ├── 9425239.ann ├── 9482572.ann ├── 9668171.ann ├── 9792860.ann ├── 9843038.ann ├── 9580132.ann ├── 9856499.txt ├── 9888390.ann ├── 9400934.ann ├── 9744473.ann ├── 9705283.ann ├── 9949197.ann ├── 9385378.ann ├── 9585606.ann ├── 941901.ann ├── 9792409.ann └── 9336417.ann /standoff/train/10545613.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 112 130 fragile X syndrome 2 | N1 Reference T1 MeSH:D005600 3 | -------------------------------------------------------------------------------- /standoff/train/2055114.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 193 205 histidinemia 2 | N1 Reference T1 MeSH:C538320 3 | -------------------------------------------------------------------------------- /standoff/devel/8678979.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 117 131 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | -------------------------------------------------------------------------------- /standoff/devel/8700509.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 155 176 breast/ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | -------------------------------------------------------------------------------- /standoff/train/10094552.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 286 301 hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | -------------------------------------------------------------------------------- /standoff/train/6453040.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 147 162 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | -------------------------------------------------------------------------------- /standoff/train/6540752.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 195 210 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | -------------------------------------------------------------------------------- /standoff/train/7390473.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 189 204 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | -------------------------------------------------------------------------------- /standoff/train/10827109.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 679 707 breast and/or ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | -------------------------------------------------------------------------------- /standoff/train/10958786.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 188 205 Colorectal Cancer 2 | N1 Reference T1 MeSH:D015179 3 | -------------------------------------------------------------------------------- /standoff/train/10220405.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 174 199 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | -------------------------------------------------------------------------------- /standoff/devel/8944024.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 509 545 hereditary breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | -------------------------------------------------------------------------------- /standoff/train/10590055.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 248 284 neonatal alloimmune thrombocytopenia 2 | N1 Reference T1 MeSH:D054098 3 | -------------------------------------------------------------------------------- /standoff/train/10875918.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 242 281 autoimmune lymphoproliferative syndrome 2 | N1 Reference T1 MeSH:D056735 3 | -------------------------------------------------------------------------------- /standoff/train/10528853.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 58 103 hereditary breast and ovarian cancer syndrome 2 | N1 Reference T1 MeSH:D061325 3 | -------------------------------------------------------------------------------- /standoff/devel/9245987.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 73 87 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 Modifier 206 220 retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | -------------------------------------------------------------------------------- /standoff/train/10425038.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 112 133 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 Modifier 332 335 A-T 4 | N2 Reference T2 MeSH:D001260 5 | -------------------------------------------------------------------------------- /standoff/train/1146783.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 12 Histidinemia 2 | N1 Reference T1 MeSH:C538320 3 | T2 SpecificDisease 93 105 histidinemia 4 | N2 Reference T2 MeSH:C538320 5 | -------------------------------------------------------------------------------- /standoff/train/1673289.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 977 995 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 997 999 HD 4 | N2 Reference T2 MeSH:D006816 5 | -------------------------------------------------------------------------------- /standoff/train/2209091.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 29 46 Friedreich ataxia 2 | N1 Reference T1 MeSH:D005621 3 | T2 Modifier 120 137 Friedreich ataxia 4 | N2 Reference T2 MeSH:D005621 5 | -------------------------------------------------------------------------------- /standoff/test/9463318.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 35 53 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 318 336 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | -------------------------------------------------------------------------------- /standoff/test/9465301.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 173 190 Angelman syndrome 2 | N1 Reference T1 MeSH:D017204 3 | T2 SpecificDisease 255 273 uniparental disomy 4 | N2 Reference T2 MeSH:D024182 5 | -------------------------------------------------------------------------------- /standoff/test/9703501.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 77 102 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 463 481 deficient in BRCA1 4 | N2 Reference T2 OMIM:604370 5 | -------------------------------------------------------------------------------- /standoff/train/10472529.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 159 178 recessive disorders 2 | N1 Reference T1 MeSH:D030342 3 | T2 SpecificDisease 427 442 phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | -------------------------------------------------------------------------------- /standoff/train/1769645.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 73 88 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 482 497 phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | -------------------------------------------------------------------------------- /standoff/train/3198117.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 218 235 enzyme deficiency 2 | N1 Reference T1 MeSH:D008661 3 | T2 SpecificDisease 687 702 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | -------------------------------------------------------------------------------- /standoff/train/8408659.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 177 192 atherosclerosis 2 | N1 Reference T1 MeSH:D050197 3 | T2 SpecificDisease 338 353 CETP deficiency 4 | N2 Reference T2 OMIM:143470 5 | -------------------------------------------------------------------------------- /standoff/devel/8589722.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 117 152 inherited breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 724 730 tumour 4 | N2 Reference T2 MeSH:D009369 5 | -------------------------------------------------------------------------------- /standoff/devel/8845838.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 1346 1362 VLCAD deficiency 2 | N1 Reference T1 MeSH:C536353 3 | T2 SpecificDisease 1471 1487 VLCAD deficiency 4 | N2 Reference T2 MeSH:C536353 5 | -------------------------------------------------------------------------------- /standoff/train/10724160.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 48 72 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 Modifier 170 194 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | -------------------------------------------------------------------------------- /standoff/train/7951316.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 172 208 hereditary breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 671 684 breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | -------------------------------------------------------------------------------- /standoff/train/8566965.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 32 57 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 140 165 breast and ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | -------------------------------------------------------------------------------- /standoff/train/1222588.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 44 65 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 SpecificDisease 205 226 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | -------------------------------------------------------------------------------- /standoff/train/2071157.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 51 71 Lesch-Nyhan syndrome 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 745 765 Lesch-Nyhan syndrome 4 | N2 Reference T2 MeSH:D007926 5 | -------------------------------------------------------------------------------- /standoff/devel/8825599.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 21 65 glucose-6-phosphate dehydrogenase deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 110 125 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | -------------------------------------------------------------------------------- /standoff/test/9536083.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 188 222 familial breast and ovarian cancer 2 | N1 Reference T1 OMIM:613399 3 | T2 CompositeMention 929 950 breast/ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | -------------------------------------------------------------------------------- /standoff/train/1707231.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 77 105 Pelizaeus-Merzbacher disease 2 | N1 Reference T1 OMIM:312080 3 | T2 SpecificDisease 233 261 Pelizaeus-Merzbacher disease 4 | N2 Reference T2 OMIM:312080 5 | -------------------------------------------------------------------------------- /standoff/train/8575748.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 134 176 hereditary human breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 SpecificDisease 1036 1049 BRCA1 defects 4 | N2 Reference T2 OMIM:604370 5 | -------------------------------------------------------------------------------- /standoff/devel/8790412.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 39 64 alveolar rhabdomyosarcoma 2 | N1 Reference T1 MeSH:D018232 3 | T2 SpecificDisease 100 135 Pediatric alveolar rhabdomyosarcoma 4 | N2 Reference T2 MeSH:D018232 5 | -------------------------------------------------------------------------------- /standoff/train/1999339.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 67 118 Glucose-6-phosphate dehydrogenase (G6PD) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 622 637 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | -------------------------------------------------------------------------------- /standoff/devel/8605116.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 52 77 hereditary retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 CompositeMention 152 197 familial or sporadic bilateral retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | -------------------------------------------------------------------------------- /standoff/train/3572301.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 58 82 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 SpecificDisease 323 373 X-linked immunodeficiency Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | -------------------------------------------------------------------------------- /standoff/train/1303171.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 56 70 Norrie disease 2 | N1 Reference T1 MeSH:C537849 3 | T2 Modifier 872 886 Norrie disease 4 | N2 Reference T2 MeSH:C537849 5 | T3 Modifier 888 891 NDP 6 | N3 Reference T3 MeSH:C537849 7 | -------------------------------------------------------------------------------- /standoff/train/8244393.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 496 555 autosomal recessive disease glucose/galactose malabsorption 2 | N1 Reference T1 OMIM:606824 3 | T2 DiseaseClass 1008 1024 genetic diseases 4 | N2 Reference T2 MeSH:D030342 5 | -------------------------------------------------------------------------------- /standoff/devel/9138149.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 55 63 aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 Modifier 121 129 aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 SpecificDisease 277 285 aniridia 6 | N3 Reference T3 MeSH:D015783 7 | -------------------------------------------------------------------------------- /standoff/train/1352883.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 122 136 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 Modifier 152 166 retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 DiseaseClass 438 444 tumors 6 | N3 Reference T3 MeSH:D009369 7 | -------------------------------------------------------------------------------- /standoff/train/8111379.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 55 63 aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 Modifier 143 151 aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 SpecificDisease 991 999 aniridia 6 | N3 Reference T3 MeSH:D015783 7 | -------------------------------------------------------------------------------- /standoff/train/8466512.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 21 87 deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase 2 | N1 Reference T1 MeSH:C536353 3 | T2 SpecificDisease 435 451 VLCAD deficiency 4 | N2 Reference T2 MeSH:C536353 5 | -------------------------------------------------------------------------------- /standoff/train/7663517.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 114 150 hereditary breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 325 353 breast and/or ovarian cancer 4 | N2 Reference T2 MeSH:D001943 5 | N3 Reference T2 MeSH:D010051 6 | -------------------------------------------------------------------------------- /standoff/train/8440142.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 34 48 Norrie disease 2 | N1 Reference T1 MeSH:C537849 3 | T2 Modifier 373 387 Norrie disease 4 | N2 Reference T2 MeSH:C537849 5 | T3 Modifier 858 872 Norrie disease 6 | N3 Reference T3 MeSH:C537849 7 | -------------------------------------------------------------------------------- /standoff/devel/8956035.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 423 437 G6PD deficient 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 475 481 favism 4 | N2 Reference T2 MeSH:D005236 5 | T3 DiseaseClass 792 809 enzyme deficiency 6 | N3 Reference T3 MeSH:D008661 7 | -------------------------------------------------------------------------------- /standoff/devel/9218625.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 32 C7 deficiency 2 | N1 Reference T1 OMIM:610102 3 | T2 SpecificDisease 82 95 C7 deficiency 4 | N2 Reference T2 OMIM:610102 5 | T3 Modifier 645 657 C7-deficient 6 | N3 Reference T3 OMIM:610102 7 | -------------------------------------------------------------------------------- /standoff/test/9342365.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 163 188 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 241 246 tumor 4 | N2 Reference T2 MeSH:D009369 5 | T3 Modifier 1403 1408 tumor 6 | N3 Reference T3 MeSH:D009369 7 | -------------------------------------------------------------------------------- /standoff/train/1347968.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 442 469 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 471 474 DMD 4 | N2 Reference T2 MeSH:D020388 5 | T3 Modifier 617 620 DMD 6 | N3 Reference T3 MeSH:D020388 7 | -------------------------------------------------------------------------------- /standoff/train/3032521.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 75 89 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 SpecificDisease 423 437 retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 Modifier 490 504 retinoblastoma 6 | N3 Reference T3 MeSH:D012175 7 | -------------------------------------------------------------------------------- /standoff/devel/9069115.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 69 81 alkaptonuria 2 | N1 Reference T1 MeSH:D000474 3 | T2 Modifier 1519 1531 alkaptonuria 4 | N2 Reference T2 MeSH:D000474 5 | T3 SpecificDisease 1679 1691 alkaptonuria 6 | N3 Reference T3 MeSH:D000474 7 | -------------------------------------------------------------------------------- /standoff/test/9714764.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 171 206 insulin-dependent diabetes mellitus 2 | N1 Reference T1 MeSH:D003922 3 | T2 Modifier 208 212 IDDM 4 | N2 Reference T2 MeSH:D003922 5 | T3 DiseaseClass 340 348 diabetes 6 | N3 Reference T3 MeSH:D003920 7 | -------------------------------------------------------------------------------- /standoff/train/3422216.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 123 136 choroideremia 2 | N1 Reference T1 MeSH:D015794 3 | T2 SpecificDisease 208 221 choroideremia 4 | N2 Reference T2 MeSH:D015794 5 | T3 Modifier 601 614 choroideremia 6 | N3 Reference T3 MeSH:D015794 7 | -------------------------------------------------------------------------------- /standoff/devel/8661102.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 77 98 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 SpecificDisease 163 184 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 SpecificDisease 186 189 A-T 6 | N3 Reference T3 MeSH:D001260 7 | -------------------------------------------------------------------------------- /standoff/devel/8944023.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 92 128 hereditary breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 714 727 breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | T3 Modifier 795 801 tumour 6 | N3 Reference T3 MeSH:D009369 7 | -------------------------------------------------------------------------------- /standoff/train/1975560.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 90 108 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 261 279 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 281 283 DM 6 | N3 Reference T3 MeSH:D009223 7 | -------------------------------------------------------------------------------- /standoff/train/2989709.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 312 329 deficiency of AAT 2 | N1 Reference T1 MeSH:C531610 3 | T2 DiseaseClass 484 493 emphysema 4 | N2 Reference T2 MeSH:D004646 5 | T3 DiseaseClass 498 511 liver disease 6 | N3 Reference T3 MeSH:D008107 7 | -------------------------------------------------------------------------------- /standoff/devel/9050866.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 25 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 Modifier 152 173 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 Modifier 686 707 ataxia-telangiectasia 6 | N3 Reference T3 MeSH:D001260 7 | -------------------------------------------------------------------------------- /standoff/test/9554743.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 111 125 Wilson disease 2 | N1 Reference T1 MeSH:D006527 3 | T2 SpecificDisease 277 291 Wilson disease 4 | N2 Reference T2 MeSH:D006527 5 | T3 SpecificDisease 748 762 Wilson disease 6 | N3 Reference T3 MeSH:D006527 7 | -------------------------------------------------------------------------------- /standoff/test/9856499.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 24 Complement C7 deficiency 2 | N1 Reference T1 OMIM:610102 3 | T2 SpecificDisease 131 144 C7 deficiency 4 | N2 Reference T2 OMIM:610102 5 | T3 SpecificDisease 487 497 C7 defects 6 | N3 Reference T3 OMIM:610102 7 | -------------------------------------------------------------------------------- /standoff/train/10426999.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 101 106 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 CompositeMention 137 172 familial breast and ovarian cancers 4 | N2 Reference T2 MeSH:D061325 5 | T3 Modifier 515 528 breast cancer 6 | N3 Reference T3 MeSH:D001943 7 | -------------------------------------------------------------------------------- /standoff/train/10874302.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 253 270 Mendelian disease 2 | N1 Reference T1 MeSH:D030342 3 | T2 DiseaseClass 301 324 multifactorial diseases 4 | N2 Reference T2 MeSH:D004194 5 | T3 Modifier 651 663 hemophilia B 6 | N3 Reference T3 MeSH:D002836 7 | -------------------------------------------------------------------------------- /standoff/train/1301201.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 179 200 hyperphenylalaninemia 2 | N1 Reference T1 MeSH:D010661 3 | T2 Modifier 683 686 PKU 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 939 964 classical phenylketonuria 6 | N3 Reference T3 MeSH:D010661 7 | -------------------------------------------------------------------------------- /standoff/train/2817003.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 58 75 isolated aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 SpecificDisease 104 121 isolated aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 SpecificDisease 441 449 aniridia 6 | N3 Reference T3 MeSH:D015783 7 | -------------------------------------------------------------------------------- /standoff/train/7316485.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 212 229 enzyme deficiency 2 | N1 Reference T1 MeSH:D008661 3 | T2 SpecificDisease 258 268 haemolysis 4 | N2 Reference T2 MeSH:D006461 5 | T3 SpecificDisease 425 440 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/1678319.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 64 82 familial polyposis 2 | N1 Reference T1 MeSH:D011125 3 | T2 SpecificDisease 186 221 familial adenomatous polyposis coli 4 | N2 Reference T2 MeSH:D011125 5 | T3 SpecificDisease 223 226 APC 6 | N3 Reference T3 MeSH:D011125 7 | -------------------------------------------------------------------------------- /standoff/train/1833974.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 88 105 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 153 170 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 Modifier 817 834 Tay-Sachs disease 6 | N3 Reference T3 MeSH:D013661 7 | -------------------------------------------------------------------------------- /standoff/train/8098245.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 115 130 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 Modifier 282 303 hyperphenylalaninemic 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 1076 1091 phenylketonuria 6 | N3 Reference T3 MeSH:D010661 7 | -------------------------------------------------------------------------------- /standoff/devel/8692963.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 431 459 inherited metabolic disorder 2 | N1 Reference T1 MeSH:D008659 3 | T2 SpecificDisease 460 472 galactosemia 4 | N2 Reference T2 MeSH:D005693 5 | T3 SpecificDisease 1578 1590 galactosemia 6 | N3 Reference T3 MeSH:D005693 7 | -------------------------------------------------------------------------------- /standoff/devel/8929413.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 15 37 anxiety-related traits 2 | N1 Reference T1 OMIM:607834 3 | T2 DiseaseClass 208 215 anxiety 4 | N2 Reference T2 MeSH:D001008 5 | T3 DiseaseClass 842 876 anxiety-related personality traits 6 | N3 Reference T3 OMIM:607834 7 | -------------------------------------------------------------------------------- /standoff/train/10724175.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 107 113 tumour 2 | N1 Reference T1 MeSH:D009369 3 | T2 CompositeMention 175 211 inherited breast and ovarian cancers 4 | N2 Reference T2 MeSH:D061325 5 | T3 SpecificDisease 253 266 breast cancer 6 | N3 Reference T3 MeSH:D001943 7 | -------------------------------------------------------------------------------- /standoff/train/7894491.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 57 82 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 CompositeMention 133 161 breast and/or ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 Modifier 622 628 tumour 6 | N3 Reference T3 MeSH:D009369 7 | -------------------------------------------------------------------------------- /standoff/devel/8674108.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 9 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 CompositeMention 171 197 breast and ovarian cancers 4 | N2 Reference T2 MeSH:D001943 5 | N3 Reference T2 MeSH:D010051 6 | T3 DiseaseClass 264 270 tumors 7 | N4 Reference T3 MeSH:D009369 8 | -------------------------------------------------------------------------------- /standoff/train/10408771.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 22 Classical galactosemia 2 | N1 Reference T1 MeSH:D005693 3 | T2 SpecificDisease 98 120 Classical galactosemia 4 | N2 Reference T2 MeSH:D005693 5 | T3 SpecificDisease 2094 2106 galactosemia 6 | N3 Reference T3 MeSH:D005693 7 | -------------------------------------------------------------------------------- /standoff/train/7825578.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 13 37 spinal cerebellar ataxia 2 | N1 Reference T1 MeSH:D013132 3 | T2 Modifier 140 164 spinal cerebellar ataxia 4 | N2 Reference T2 MeSH:D013132 5 | T3 SpecificDisease 1211 1233 Machado-Joseph disease 6 | N3 Reference T3 MeSH:D017827 7 | -------------------------------------------------------------------------------- /standoff/test/9465039.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 19 hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 185 211 hereditary hemochromatosis 4 | N2 Reference T2 MeSH:D006432 5 | T3 SpecificDisease 1984 2010 hereditary hemochromatosis 6 | N3 Reference T3 MeSH:D006432 7 | -------------------------------------------------------------------------------- /standoff/train/10381492.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 27 53 hereditary hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 Modifier 155 170 hemochromatosis 4 | N2 Reference T2 MeSH:D006432 5 | T3 SpecificDisease 475 501 hereditary hemochromatosis 6 | N3 Reference T3 MeSH:D006432 7 | -------------------------------------------------------------------------------- /standoff/train/7586656.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 113 133 Lesch-Nyhan syndrome 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 274 296 HPRT enzyme deficiency 4 | N2 Reference T2 MeSH:D007926 5 | T3 SpecificDisease 307 327 Lesch-Nyhan syndrome 6 | N3 Reference T3 MeSH:D007926 7 | -------------------------------------------------------------------------------- /standoff/test/9774970.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 63 68 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 CompositeMention 180 208 breast and/or ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 CompositeMention 834 873 hereditary breast and/or ovarian cancer 6 | N3 Reference T3 MeSH:D061325 7 | -------------------------------------------------------------------------------- /standoff/train/7076260.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 44 Glucose-6-phosphate dehydrogenase deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 Modifier 253 267 G6PD deficient 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 502 517 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/511159.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 144 195 glucose-6-phosphate dehydrogenase (G6PD) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 Modifier 435 449 G6PD-deficient 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 632 647 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/7450778.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 38 82 glucose-6-phosphate dehydrogenase deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 464 479 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 546 561 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/7568002.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 132 150 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 Modifier 152 154 HD 4 | N2 Reference T2 MeSH:D006816 5 | T3 Modifier 674 676 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 1084 1086 HD 8 | N4 Reference T4 MeSH:D006816 9 | -------------------------------------------------------------------------------- /standoff/devel/9020847.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 90 108 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 110 112 DM 4 | N2 Reference T2 MeSH:D009223 5 | T3 Modifier 223 225 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 728 730 DM 8 | N4 Reference T4 MeSH:D009223 9 | -------------------------------------------------------------------------------- /standoff/devel/9050868.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 441 471 type IV Ehlers-Danlos syndrome 2 | N1 Reference T1 MeSH:D004535 3 | T2 SpecificDisease 494 508 aortic rupture 4 | N2 Reference T2 MeSH:D001019 5 | T3 SpecificDisease 1056 1086 type IV Ehlers-Danlos syndrome 6 | N3 Reference T3 MeSH:D004535 7 | -------------------------------------------------------------------------------- /standoff/train/7490097.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 38 52 Wilson disease 2 | N1 Reference T1 MeSH:D006527 3 | T2 Modifier 108 122 Wilson disease 4 | N2 Reference T2 MeSH:D006527 5 | T3 Modifier 124 126 WD 6 | N3 Reference T3 MeSH:D006527 7 | T4 SpecificDisease 911 913 WD 8 | N4 Reference T4 MeSH:D006527 9 | -------------------------------------------------------------------------------- /standoff/train/8477262.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 38 51 choroideremia 2 | N1 Reference T1 MeSH:D015794 3 | T2 Modifier 100 113 choroideremia 4 | N2 Reference T2 MeSH:D015794 5 | T3 Modifier 120 123 CHM 6 | N3 Reference T3 MeSH:D015794 7 | T4 SpecificDisease 170 173 CHM 8 | N4 Reference T4 MeSH:D015794 9 | -------------------------------------------------------------------------------- /standoff/devel/8786135.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 34 55 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 Modifier 132 153 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 Modifier 155 157 AT 6 | N3 Reference T3 MeSH:D001260 7 | T4 Modifier 578 580 AT 8 | N4 Reference T4 MeSH:D001260 9 | -------------------------------------------------------------------------------- /standoff/test/9790667.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 269 299 cerebrotendinous xanthomatosis 2 | N1 Reference T1 MeSH:D019294 3 | T2 SpecificDisease 301 304 CTX 4 | N2 Reference T2 MeSH:D019294 5 | T3 SpecificDisease 1364 1412 deficiency in the sterol 27-hydroxylase activity 6 | N3 Reference T3 MeSH:D019294 7 | -------------------------------------------------------------------------------- /standoff/train/10210128.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 44 72 Pelizaeus-Merzbacher disease 2 | N1 Reference T1 OMIM:312080 3 | T2 SpecificDisease 123 151 Pelizaeus-Merzbacher disease 4 | N2 Reference T2 OMIM:312080 5 | T3 SpecificDisease 643 671 Pelizaeus Merzbacher disease 6 | N3 Reference T3 OMIM:312080 7 | -------------------------------------------------------------------------------- /standoff/train/10557309.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 105 130 Alveolar rhabdomyosarcoma 2 | N1 Reference T1 MeSH:D018232 3 | T2 SpecificDisease 148 183 pediatric cancer of striated muscle 4 | N2 Reference T2 MeSH:D019042 5 | T3 Modifier 1254 1279 alveolar rhabdomyosarcoma 6 | N3 Reference T3 MeSH:D018232 7 | -------------------------------------------------------------------------------- /standoff/train/116187.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 21 52 pyruvate carboxylase deficiency 2 | N1 Reference T1 MeSH:D015324 3 | T2 SpecificDisease 316 347 pyruvate carboxylase deficiency 4 | N2 Reference T2 MeSH:D015324 5 | T3 SpecificDisease 349 371 PC Portland deficiency 6 | N3 Reference T3 MeSH:D015324 7 | -------------------------------------------------------------------------------- /standoff/train/1384324.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 28 Pelizaeus-Merzbacher disease 2 | N1 Reference T1 OMIM:312080 3 | T2 SpecificDisease 188 216 Pelizaeus-Merzbacher disease 4 | N2 Reference T2 OMIM:312080 5 | T3 SpecificDisease 1328 1356 Pelizaeus-Merzbacher disease 6 | N3 Reference T3 OMIM:312080 7 | -------------------------------------------------------------------------------- /standoff/train/2569949.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 68 83 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 Modifier 215 230 phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 Modifier 232 235 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 SpecificDisease 726 729 PKU 8 | N4 Reference T4 MeSH:D010661 9 | -------------------------------------------------------------------------------- /standoff/train/2760209.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 31 42 Lesch-Nyhan 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 129 149 Lesch-Nyhan syndrome 4 | N2 Reference T2 MeSH:D007926 5 | T3 SpecificDisease 151 207 hypoxanthine phosphoribosyltransferase [HPRT] deficiency 6 | N3 Reference T3 MeSH:D007926 7 | -------------------------------------------------------------------------------- /standoff/train/8113388.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 65 92 protein S deficiency type I 2 | N1 Reference T1 MeSH:D018455 3 | T2 SpecificDisease 145 172 type I protein S deficiency 4 | N2 Reference T2 MeSH:D018455 5 | T3 SpecificDisease 1304 1331 protein S deficiency type I 6 | N3 Reference T3 MeSH:D018455 7 | -------------------------------------------------------------------------------- /standoff/devel/8938427.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 164 185 breast-ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 DiseaseClass 254 260 tumors 4 | N2 Reference T2 MeSH:D009369 5 | T3 Modifier 316 321 tumor 6 | N3 Reference T3 MeSH:D009369 7 | T4 DiseaseClass 428 434 tumors 8 | N4 Reference T4 MeSH:D009369 9 | -------------------------------------------------------------------------------- /standoff/test/9733027.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 24 41 Friedreich ataxia 2 | N1 Reference T1 MeSH:D005621 3 | T2 Modifier 113 117 FRDA 4 | N2 Reference T2 MeSH:D005621 5 | T3 SpecificDisease 124 141 Friedreich ataxia 6 | N3 Reference T3 MeSH:D005621 7 | T4 Modifier 225 229 FRDA 8 | N4 Reference T4 MeSH:D005621 9 | -------------------------------------------------------------------------------- /standoff/train/7795596.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 8 Aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 SpecificDisease 141 149 aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 SpecificDisease 151 166 absence of iris 6 | N3 Reference T3 MeSH:D015783 7 | T4 Modifier 296 304 aniridia 8 | N4 Reference T4 MeSH:D015783 9 | -------------------------------------------------------------------------------- /standoff/train/1301190.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 6 23 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 105 122 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 124 127 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 1284 1287 TSD 8 | N4 Reference T4 MeSH:D013661 9 | -------------------------------------------------------------------------------- /standoff/train/10911990.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 217 235 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 237 239 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 720 722 DM 8 | N4 Reference T4 MeSH:D009223 9 | -------------------------------------------------------------------------------- /standoff/train/161677.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 24 37 C2 deficiency 2 | N1 Reference T1 OMIM:217000 3 | T2 Modifier 105 117 C2-deficient 4 | N2 Reference T2 OMIM:217000 5 | T3 SpecificDisease 292 305 C2 deficiency 6 | N3 Reference T3 OMIM:217000 7 | T4 Modifier 386 398 C2-deficient 8 | N4 Reference T4 OMIM:217000 9 | -------------------------------------------------------------------------------- /standoff/train/2393028.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 146 216 Glucose-6-phosphate dehydrogenase (G6PD; E. C. 1. 1. 1. 49) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 DiseaseClass 242 253 enzymopathy 4 | N2 Reference T2 MeSH:D008661 5 | T3 SpecificDisease 388 403 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/2563633.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 125 140 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 779 794 phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 796 799 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 Modifier 917 920 PKU 8 | N4 Reference T4 MeSH:D010661 9 | -------------------------------------------------------------------------------- /standoff/train/2927388.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 76 90 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 Modifier 184 198 retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 Modifier 838 852 retinoblastoma 6 | N3 Reference T3 MeSH:D012175 7 | T4 Modifier 1570 1584 retinoblastoma 8 | N4 Reference T4 MeSH:D012175 9 | -------------------------------------------------------------------------------- /standoff/train/10094559.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 38 50 alkaptonuria 2 | N1 Reference T1 MeSH:D000474 3 | T2 SpecificDisease 64 76 Alkaptonuria 4 | N2 Reference T2 MeSH:D000474 5 | T3 SpecificDisease 78 81 aku 6 | N3 Reference T3 MeSH:D000474 7 | T4 DiseaseClass 87 113 inborn error of metabolism 8 | N4 Reference T4 MeSH:D008661 9 | -------------------------------------------------------------------------------- /standoff/train/10330348.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 24 45 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 SpecificDisease 250 271 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 SpecificDisease 273 275 AT 6 | N3 Reference T3 MeSH:D001260 7 | T4 Modifier 1202 1204 AT 8 | N4 Reference T4 MeSH:D001260 9 | -------------------------------------------------------------------------------- /standoff/train/3346017.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 22 49 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 72 99 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 Modifier 101 104 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 Modifier 184 187 DMD 8 | N4 Reference T4 MeSH:D020388 9 | -------------------------------------------------------------------------------- /standoff/train/492335.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 8 44 defect in secretion of complement C5 2 | N1 Reference T1 OMIM:609536 3 | T2 SpecificDisease 64 119 deficiency of the fifth (C5) component of complement1-3 4 | N2 Reference T2 OMIM:609536 5 | T3 SpecificDisease 1187 1200 C5 deficiency 6 | N3 Reference T3 OMIM:609536 7 | -------------------------------------------------------------------------------- /standoff/train/7191069.txt: -------------------------------------------------------------------------------- 1 | Heterozygous C2-deficiency and myasthenia gravis. 2 | Complement deficiency states in myasthenia gravis (MG) have not been reported previously. We describe a 19-year-old woman with typical MG and heterozygous C2 deficiency, along with HLA typing of the patient and her immediate family.. 3 | -------------------------------------------------------------------------------- /standoff/train/7535801.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 52 subtotal complement C6 deficiency 2 | N1 Reference T1 OMIM:612446 3 | T2 SpecificDisease 130 163 subtotal complement C6 deficiency 4 | N2 Reference T2 OMIM:612446 5 | T3 CompositeMention 1330 1368 subtotal C6 and complete C6 deficiency 6 | N3 Reference T3 OMIM:612446 7 | -------------------------------------------------------------------------------- /standoff/devel/9012409.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 20 63 Duarte and Los Angeles variant galactosemia 2 | N1 Reference T1 MeSH:D005693 3 | T2 SpecificDisease 112 149 Duarte enzyme variant of galactosemia 4 | N2 Reference T2 MeSH:D005693 5 | T3 SpecificDisease 1723 1749 LA variant of galactosemia 6 | N3 Reference T3 MeSH:D005693 7 | -------------------------------------------------------------------------------- /standoff/train/1345170.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 64 85 diastrophic dysplasia 2 | N1 Reference T1 MeSH:C536170 3 | T2 SpecificDisease 634 655 diastrophic dysplasia 4 | N2 Reference T2 MeSH:C536170 5 | T3 SpecificDisease 657 660 DTD 6 | N3 Reference T3 MeSH:C536170 7 | T4 Modifier 693 696 DTD 8 | N4 Reference T4 MeSH:C536170 9 | -------------------------------------------------------------------------------- /standoff/train/2404853.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 64 67 DMD 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 178 181 DMD 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 204 229 Becker muscular dystrophy 6 | N3 Reference T3 MeSH:C537666 7 | T4 SpecificDisease 399 424 Becker muscular dystrophy 8 | N4 Reference T4 MeSH:C537666 9 | -------------------------------------------------------------------------------- /standoff/train/624546.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 17 61 glucose-6-phosphate dehydrogenase deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 139 190 Glucose-6-phosphate dehydrogenase (G6PD) deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 900 915 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/8307570.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 75 80 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 SpecificDisease 267 280 Ewing sarcoma 4 | N2 Reference T2 MeSH:D012512 5 | T3 SpecificDisease 293 315 neuroectodermal tumors 6 | N3 Reference T3 MeSH:D017599 7 | T4 DiseaseClass 1054 1066 Ewing tumors 8 | N4 Reference T4 MeSH:D012512 9 | -------------------------------------------------------------------------------- /standoff/devel/8625410.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 24 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 SpecificDisease 279 303 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | T3 SpecificDisease 305 308 WAS 6 | N3 Reference T3 MeSH:D014923 7 | T4 SpecificDisease 936 939 WAS 8 | N4 Reference T4 MeSH:D014923 9 | -------------------------------------------------------------------------------- /standoff/devel/8776595.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 37 Emery-Dreifuss muscular dystrophy 2 | N1 Reference T1 MeSH:D020389 3 | T2 Modifier 687 720 Emery-Dreifuss muscular dystrophy 4 | N2 Reference T2 MeSH:D020389 5 | T3 Modifier 722 726 EMDM 6 | N3 Reference T3 MeSH:D020389 7 | T4 Modifier 870 874 EDMD 8 | N4 Reference T4 MeSH:D020389 9 | -------------------------------------------------------------------------------- /standoff/devel/9122265.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 14 51 autosomal dominant myotonia congenita 2 | N1 Reference T1 OMIM:160800 3 | T2 SpecificDisease 108 145 Autosomal dominant myotonia congenita 4 | N2 Reference T2 OMIM:160800 5 | T3 DiseaseClass 152 189 inherited disorder of skeletal muscle 6 | N3 Reference T3 MeSH:D009135+D030342 7 | -------------------------------------------------------------------------------- /standoff/test/9457913.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 154 191 atrophic benign epidermolysis bullosa 2 | N1 Reference T1 MeSH:D016109 3 | T2 SpecificDisease 219 256 atrophic benign epidermolysis bullosa 4 | N2 Reference T2 MeSH:D016109 5 | T3 SpecificDisease 463 500 atrophic benign epidermolysis bullosa 6 | N3 Reference T3 MeSH:D016109 7 | -------------------------------------------------------------------------------- /standoff/train/3346018.txt: -------------------------------------------------------------------------------- 1 | Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene. 2 | The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.. 3 | -------------------------------------------------------------------------------- /standoff/train/3563511.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 52 63 Lesch-Nyhan 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 572 592 Lesch-Nyhan syndrome 4 | N2 Reference T2 MeSH:D007926 5 | T3 Modifier 685 696 Lesch-Nyhan 6 | N3 Reference T3 MeSH:D007926 7 | T4 SpecificDisease 879 899 Lesch-Nyhan syndrome 8 | N4 Reference T4 MeSH:D007926 9 | -------------------------------------------------------------------------------- /standoff/test/9590178.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 12 Wilms' tumor 2 | N1 Reference T1 MeSH:D009396 3 | T2 Modifier 146 157 Wilms tumor 4 | N2 Reference T2 MeSH:D009396 5 | T3 SpecificDisease 538 564 male pseudohermaphroditism 6 | N3 Reference T3 MeSH:D058490 7 | T4 SpecificDisease 568 588 Denys-Drash syndrome 8 | N4 Reference T4 MeSH:D030321 9 | -------------------------------------------------------------------------------- /standoff/train/1301189.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 102 119 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 181 198 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 200 203 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 1638 1655 Tay-Sachs disease 8 | N4 Reference T4 MeSH:D013661 9 | -------------------------------------------------------------------------------- /standoff/train/144081.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 26 41 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 119 134 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 394 409 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 495 502 malaria 8 | N4 Reference T4 MeSH:D008288 9 | -------------------------------------------------------------------------------- /standoff/train/2835825.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 31 42 Lesch-Nyhan 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 130 150 Lesch-Nyhan syndrome 4 | N2 Reference T2 MeSH:D007926 5 | T3 Modifier 596 608 Epstein-Barr 6 | N3 Reference T3 MeSH:D020031 7 | T4 SpecificDisease 1034 1054 Lesch-Nyhan syndrome 8 | N4 Reference T4 MeSH:D007926 9 | -------------------------------------------------------------------------------- /standoff/train/7630639.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 29 alveolar rhabdomyosarcoma 2 | N1 Reference T1 MeSH:D018232 3 | T2 DiseaseClass 265 277 solid tumors 4 | N2 Reference T2 MeSH:D009369 5 | T3 SpecificDisease 342 367 alveolar rhabdomyosarcoma 6 | N3 Reference T3 MeSH:D018232 7 | T4 Modifier 1030 1035 tumor 8 | N4 Reference T4 MeSH:D009369 9 | -------------------------------------------------------------------------------- /standoff/devel/8917548.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 23 44 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 SpecificDisease 105 126 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 SpecificDisease 351 359 thymomas 6 | N3 Reference T3 MeSH:D013945 7 | T4 Modifier 638 659 ataxia-telangiectasia 8 | N4 Reference T4 MeSH:D001260 9 | -------------------------------------------------------------------------------- /standoff/train/10777718.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 15 Gaucher disease 2 | N1 Reference T1 MeSH:D005776 3 | T2 SpecificDisease 108 123 Gaucher disease 4 | N2 Reference T2 MeSH:D005776 5 | T3 SpecificDisease 125 127 GD 6 | N3 Reference T3 MeSH:D005776 7 | T4 DiseaseClass 150 176 lysosomal storage disorder 8 | N4 Reference T4 MeSH:D016464 9 | -------------------------------------------------------------------------------- /standoff/train/10790204.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 68 very long chain acyl-CoA dehydrogenase deficiency 2 | N1 Reference T1 MeSH:C536353 3 | T2 SpecificDisease 230 287 Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency 4 | N2 Reference T2 MeSH:C536353 5 | T3 SpecificDisease 473 489 VLCAD deficiency 6 | N3 Reference T3 MeSH:C536353 7 | -------------------------------------------------------------------------------- /standoff/train/122435.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 22 36 Wolman disease 2 | N1 Reference T1 MeSH:D015223 3 | T2 SpecificDisease 66 80 Wolman disease 4 | N2 Reference T2 MeSH:D015223 5 | T3 SpecificDisease 547 561 Wolman disease 6 | N3 Reference T3 MeSH:D015223 7 | T4 SpecificDisease 1115 1129 Wolman disease 8 | N4 Reference T4 MeSH:D015223 9 | -------------------------------------------------------------------------------- /standoff/train/1376553.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 77 105 Pelizaeus-Merzbacher disease 2 | N1 Reference T1 OMIM:312080 3 | T2 SpecificDisease 241 269 Pelizaeus-merzbacher disease 4 | N2 Reference T2 OMIM:312080 5 | T3 SpecificDisease 271 274 PMD 6 | N3 Reference T3 OMIM:312080 7 | T4 SpecificDisease 735 738 PMD 8 | N4 Reference T4 OMIM:312080 9 | -------------------------------------------------------------------------------- /standoff/test/9546397.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 25 40 hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 173 194 iron-overload disease 4 | N2 Reference T2 MeSH:D019190 5 | T3 SpecificDisease 195 221 hereditary hemochromatosis 6 | N3 Reference T3 MeSH:D006432 7 | T4 Modifier 414 429 hemochromatosis 8 | N4 Reference T4 MeSH:D006432 9 | -------------------------------------------------------------------------------- /standoff/train/10198641.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 169 174 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 CompositeMention 211 237 breast and ovarian cancers 4 | N2 Reference T2 MeSH:D061325 5 | T3 DiseaseClass 582 607 chromosomal abnormalities 6 | N3 Reference T3 MeSH:D002869 7 | T4 SpecificDisease 747 757 aneuploidy 8 | N4 Reference T4 MeSH:D000782 9 | -------------------------------------------------------------------------------- /standoff/train/1301146.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 69 78 fragile X 2 | N1 Reference T1 MeSH:D005600 3 | T2 DiseaseClass 227 245 mental retardation 4 | N2 Reference T2 MeSH:D008607 5 | T3 SpecificDisease 392 410 fragile X syndrome 6 | N3 Reference T3 MeSH:D005600 7 | T4 SpecificDisease 678 696 fragile X syndrome 8 | N4 Reference T4 MeSH:D005600 9 | -------------------------------------------------------------------------------- /standoff/devel/8651278.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 43 68 hereditary retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 SpecificDisease 136 161 hereditary retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 Modifier 1345 1350 tumor 6 | N3 Reference T3 MeSH:D009369 7 | T4 DiseaseClass 1378 1394 nonocular tumors 8 | N4 Reference T4 MeSH:D009369 9 | -------------------------------------------------------------------------------- /standoff/train/10533068.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 33 46 retinoschisis 2 | N1 Reference T1 MeSH:D041441 3 | T2 SpecificDisease 109 131 Juvenile retinoschisis 4 | N2 Reference T2 MeSH:D041441 5 | T3 DiseaseClass 138 164 X-linked recessive disease 6 | N3 Reference T3 MeSH:D040181 7 | T4 Modifier 344 357 Retinoschisis 8 | N4 Reference T4 MeSH:D041441 9 | -------------------------------------------------------------------------------- /standoff/train/1301187.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 34 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 DiseaseClass 47 69 hyperphenylalaninemias 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 208 223 phenylketonuria 6 | N3 Reference T3 MeSH:D010661 7 | T4 DiseaseClass 227 248 hyperphenylalaninemia 8 | N4 Reference T4 MeSH:D010661 9 | -------------------------------------------------------------------------------- /standoff/train/1307253.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 293 331 Duchenne and Becker muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | N2 Reference T1 MeSH:C537666 4 | T2 Modifier 333 336 DMD 5 | N3 Reference T2 MeSH:D020388 6 | T3 Modifier 337 340 BMD 7 | N4 Reference T3 MeSH:C537666 8 | T4 Modifier 497 505 Duchenne 9 | N5 Reference T4 MeSH:D020388 10 | -------------------------------------------------------------------------------- /standoff/train/1676565.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 44 72 Pelizaeus-Merzbacher disease 2 | N1 Reference T1 OMIM:312080 3 | T2 SpecificDisease 270 307 X-linked Pelizaeus-Merzbacher disease 4 | N2 Reference T2 OMIM:312080 5 | T3 SpecificDisease 309 312 PMD 6 | N3 Reference T3 OMIM:312080 7 | T4 SpecificDisease 643 646 PMD 8 | N4 Reference T4 OMIM:312080 9 | -------------------------------------------------------------------------------- /standoff/train/3856322.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 65 80 Phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 82 85 PKU 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 110 160 deficiency of the enzyme phenylalanine hydroxylase 6 | N3 Reference T3 OMIM:261600 7 | T4 SpecificDisease 878 881 PKU 8 | N4 Reference T4 MeSH:D010661 9 | -------------------------------------------------------------------------------- /standoff/train/7545954.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 27 52 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 CompositeMention 165 190 breast and ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 Modifier 846 871 breast and ovarian cancer 6 | N3 Reference T3 MeSH:D061325 7 | T4 Modifier 944 957 breast cancer 8 | N4 Reference T4 MeSH:D001943 9 | -------------------------------------------------------------------------------- /standoff/train/7761412.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 25 38 Lowe syndrome 2 | N1 Reference T1 MeSH:D009800 3 | T2 SpecificDisease 97 110 Lowe syndrome 4 | N2 Reference T2 MeSH:D009800 5 | T3 SpecificDisease 126 152 oculocerebrorenal syndrome 6 | N3 Reference T3 MeSH:D009800 7 | T4 SpecificDisease 1715 1728 Lowe syndrome 8 | N4 Reference T4 MeSH:D009800 9 | -------------------------------------------------------------------------------- /standoff/train/7802009.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 90 117 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 246 249 DMD 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 305 332 Duchenne muscular dystrophy 6 | N3 Reference T3 MeSH:D020388 7 | T4 DiseaseClass 821 838 X-linked diseases 8 | N4 Reference T4 MeSH:D040181 9 | -------------------------------------------------------------------------------- /standoff/train/3377761.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 53 X-linked glucose-6-phosphate dehydrogenase deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 84 144 X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 988 1012 X-linked G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | -------------------------------------------------------------------------------- /standoff/train/7959767.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 29 47 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 186 204 Huntington disease 4 | N2 Reference T2 MeSH:D006816 5 | T3 SpecificDisease 206 208 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 DiseaseClass 222 267 autosomal dominant neurodegenerative disorder 8 | N4 Reference T4 MeSH:D019636 9 | -------------------------------------------------------------------------------- /standoff/train/8571953.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 196 221 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 427 448 breast/ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 CompositeMention 688 713 breast and ovarian cancer 6 | N3 Reference T3 MeSH:D061325 7 | T4 SpecificDisease 839 853 ovarian cancer 8 | N4 Reference T4 MeSH:D010051 9 | -------------------------------------------------------------------------------- /standoff/devel/8644703.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 118 132 Ovarian Cancer 2 | N1 Reference T1 MeSH:D010051 3 | T2 CompositeMention 276 304 breast and/or ovarian cancer 4 | N2 Reference T2 OMIM:604370 5 | T3 Modifier 734 755 breast/ovarian cancer 6 | N3 Reference T3 OMIM:604370 7 | T4 CompositeMention 845 873 breast and/or ovarian cancer 8 | N4 Reference T4 OMIM:604370 9 | -------------------------------------------------------------------------------- /standoff/train/10746568.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 61 80 factor X deficiency 2 | N1 Reference T1 MeSH:D005171 3 | T2 SpecificDisease 82 101 Factor X deficiency 4 | N2 Reference T2 MeSH:D005171 5 | T3 DiseaseClass 112 134 haemorrhagic condition 6 | N3 Reference T3 MeSH:D006474 7 | T4 SpecificDisease 333 352 factor X deficiency 8 | N4 Reference T4 MeSH:D005171 9 | -------------------------------------------------------------------------------- /standoff/devel/8843193.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 104 125 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 Modifier 127 129 AT 4 | N2 Reference T2 MeSH:D001260 5 | T3 Modifier 343 345 AT 6 | N3 Reference T3 MeSH:D001260 7 | T4 Modifier 1113 1119 cancer 8 | N4 Reference T4 MeSH:D009369 9 | T5 Modifier 1128 1130 AT 10 | N5 Reference T5 MeSH:D001260 11 | -------------------------------------------------------------------------------- /standoff/train/102474.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 0 40 Combined genetic deficiency of C6 and C7 2 | N1 Reference T1 OMIM:610102 3 | N2 Reference T1 OMIM:612446 4 | T2 CompositeMention 117 150 sub-total deficiency of C6 and C7 5 | N3 Reference T2 OMIM:610102 6 | N4 Reference T2 OMIM:612446 7 | T3 SpecificDisease 298 311 C6 deficiency 8 | N5 Reference T3 OMIM:612446 9 | -------------------------------------------------------------------------------- /standoff/train/1201235.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 81 105 severe neonatal jaundice 2 | N1 Reference T1 MeSH:D007567 3 | T2 SpecificDisease 125 140 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 DiseaseClass 253 272 hyperbilirubinaemia 6 | N3 Reference T3 MeSH:D006932 7 | T4 SpecificDisease 735 759 severe neonatal jaundice 8 | N4 Reference T4 MeSH:D007567 9 | -------------------------------------------------------------------------------- /standoff/train/3362213.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 54 71 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 73 90 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 DiseaseClass 97 133 autosomal recessive genetic disorder 6 | N3 Reference T3 MeSH:D030342 7 | T4 SpecificDisease 1046 1063 Tay-Sachs disease 8 | N4 Reference T4 MeSH:D013661 9 | -------------------------------------------------------------------------------- /standoff/train/7668252.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 603 618 VLCAD-deficient 2 | N1 Reference T1 MeSH:C536353 3 | T2 SpecificDisease 864 880 VLCAD deficiency 4 | N2 Reference T2 MeSH:C536353 5 | T3 SpecificDisease 1033 1071 deficiency of the normal VLCAD protein 6 | N3 Reference T3 MeSH:C536353 7 | T4 SpecificDisease 1450 1466 VLCAD deficiency 8 | N4 Reference T4 MeSH:C536353 9 | -------------------------------------------------------------------------------- /standoff/train/10519880.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 131 161 cerebrotendinous xanthomatosis 2 | N1 Reference T1 MeSH:D019294 3 | T2 SpecificDisease 198 228 cerebrotendinous xanthomatosis 4 | N2 Reference T2 MeSH:D019294 5 | T3 SpecificDisease 230 233 CTX 6 | N3 Reference T3 MeSH:D019294 7 | T4 SpecificDisease 1438 1458 abnormality of CYP27 8 | N4 Reference T4 OMIM:213700 9 | -------------------------------------------------------------------------------- /standoff/train/10943845.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 90 103 breast cancer 2 | N1 Reference T1 MeSH:D001943 3 | T2 Modifier 131 136 tumor 4 | N2 Reference T2 MeSH:D009369 5 | T3 CompositeMention 187 213 breast and ovarian cancers 6 | N3 Reference T3 MeSH:D010051 7 | N4 Reference T3 MeSH:D001943 8 | T4 DiseaseClass 783 789 cancer 9 | N5 Reference T4 MeSH:D009369 10 | -------------------------------------------------------------------------------- /standoff/train/126380.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 23 45 ankylosing spondylitis 2 | N1 Reference T1 MeSH:D013167 3 | T2 SpecificDisease 91 113 Ankylosing spondylitis 4 | N2 Reference T2 MeSH:D013167 5 | T3 SpecificDisease 637 659 ankylosing spondylitis 6 | N3 Reference T3 MeSH:D013167 7 | T4 SpecificDisease 908 930 ankylosing spondylitis 8 | N4 Reference T4 MeSH:D013167 9 | -------------------------------------------------------------------------------- /standoff/devel/8666397.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 25 49 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 SpecificDisease 206 230 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | T3 DiseaseClass 918 947 fatal lymphoreticular disease 6 | N3 Reference T3 MeSH:D008206 7 | T4 SpecificDisease 1012 1036 Wiskott-Aldrich syndrome 8 | N4 Reference T4 MeSH:D014923 9 | -------------------------------------------------------------------------------- /standoff/train/10085150.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 30 hereditary hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 DiseaseClass 170 197 autosomal recessive disease 4 | N2 Reference T2 MeSH:D030342 5 | T3 SpecificDisease 198 224 hereditary hemochromatosis 6 | N3 Reference T3 MeSH:D006432 7 | T4 Modifier 2094 2120 hereditary hemochromatotic 8 | N4 Reference T4 MeSH:D006432 9 | -------------------------------------------------------------------------------- /standoff/train/3346018.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 16 19 DMD 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 91 94 DMD 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 166 193 Duchenne muscular dystrophy 6 | N3 Reference T3 MeSH:D020388 7 | T4 SpecificDisease 195 198 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 Modifier 275 278 DMD 10 | N5 Reference T5 MeSH:D020388 11 | -------------------------------------------------------------------------------- /standoff/train/8259519.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 19 28 APC tumor 2 | N1 Reference T1 MeSH:D011125 3 | T2 SpecificDisease 137 154 colorectal cancer 4 | N2 Reference T2 MeSH:D015179 5 | T3 Modifier 253 256 APC 6 | N3 Reference T3 MeSH:D011125 7 | T4 SpecificDisease 313 316 APC 8 | N4 Reference T4 MeSH:D011125 9 | T5 Modifier 613 618 tumor 10 | N5 Reference T5 MeSH:D009369 11 | -------------------------------------------------------------------------------- /standoff/train/1505217.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 142 164 Aspartylglucosaminuria 2 | N1 Reference T1 MeSH:D054880 3 | T2 SpecificDisease 166 169 AGU 4 | N2 Reference T2 MeSH:D054880 5 | T3 DiseaseClass 208 234 lysosomal storage disorder 6 | N3 Reference T3 MeSH:D016464 7 | T4 SpecificDisease 242 290 deficiency of the enzyme aspartylglucosaminidase 8 | N4 Reference T4 MeSH:D054880 9 | -------------------------------------------------------------------------------- /standoff/devel/8595416.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 91 109 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 134 152 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 154 156 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 561 563 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 1234 1236 DM 10 | N5 Reference T5 MeSH:D009223 11 | -------------------------------------------------------------------------------- /standoff/test/9671401.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 45 59 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 Modifier 105 110 tumor 4 | N2 Reference T2 MeSH:D009369 5 | T3 Modifier 282 296 retinoblastoma 6 | N3 Reference T3 MeSH:D012175 7 | T4 DiseaseClass 354 371 unilateral tumors 8 | N4 Reference T4 MeSH:D009369 9 | T5 DiseaseClass 800 806 tumors 10 | N5 Reference T5 MeSH:D009369 11 | -------------------------------------------------------------------------------- /standoff/train/10543403.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 16 20 FRDA 2 | N1 Reference T1 MeSH:D005621 3 | T2 SpecificDisease 83 100 Friedreich ataxia 4 | N2 Reference T2 MeSH:D005621 5 | T3 SpecificDisease 102 106 FRDA 6 | N3 Reference T3 MeSH:D005621 7 | T4 DiseaseClass 127 143 inherited ataxia 8 | N4 Reference T4 MeSH:D013132 9 | T5 Modifier 525 529 FRDA 10 | N5 Reference T5 MeSH:D005621 11 | -------------------------------------------------------------------------------- /standoff/train/1302022.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 24 42 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 124 142 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 144 146 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 525 527 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 SpecificDisease 807 809 DM 10 | N5 Reference T5 MeSH:D009223 11 | -------------------------------------------------------------------------------- /standoff/train/1303173.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 55 69 G6PD deficient 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 104 155 glucose 6-phosphate dehydrogenase (G6PD) deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 762 777 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 1527 1552 enzyme deficiency in G6PD 8 | N4 Reference T4 MeSH:D005955 9 | -------------------------------------------------------------------------------- /standoff/train/1831007.txt: -------------------------------------------------------------------------------- 1 | Huntington disease and childhood-onset Tourette syndrome. 2 | A 40-year-old man with childhood-onset Tourette syndrome (TS) developed Huntington disease (HD). We believe this to be the first reported case of childhood-onset TS with adult onset HD. Discovery of other cases with both disorders may provide clues to the pathophysiology of both conditions.. 3 | -------------------------------------------------------------------------------- /standoff/train/3417303.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 22 40 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 136 154 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 156 158 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 323 325 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 994 996 DM 10 | N5 Reference T5 MeSH:D009223 11 | -------------------------------------------------------------------------------- /standoff/test/9382108.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 41 59 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 94 112 Huntington disease 4 | N2 Reference T2 MeSH:D006816 5 | T3 SpecificDisease 114 116 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 232 234 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 Modifier 426 428 HD 10 | N5 Reference T5 MeSH:D006816 11 | -------------------------------------------------------------------------------- /standoff/train/1610789.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 34 46 galactosemia 2 | N1 Reference T1 MeSH:D005693 3 | T2 Modifier 227 239 galactosemia 4 | N2 Reference T2 MeSH:D005693 5 | T3 Modifier 358 370 galactosemia 6 | N3 Reference T3 MeSH:D005693 7 | T4 SpecificDisease 878 890 galactosemia 8 | N4 Reference T4 MeSH:D005693 9 | T5 Modifier 908 920 galactosemia 10 | N5 Reference T5 MeSH:D005693 11 | -------------------------------------------------------------------------------- /standoff/train/2571579.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 85 103 Huntington disease 4 | N2 Reference T2 MeSH:D006816 5 | T3 SpecificDisease 105 107 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 143 145 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 Modifier 688 690 HD 10 | N5 Reference T5 MeSH:D006816 11 | -------------------------------------------------------------------------------- /standoff/train/2575483.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 27 aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 SpecificDisease 157 165 aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 Modifier 202 210 aniridia 6 | N3 Reference T3 MeSH:D015783 7 | T4 SpecificDisease 527 535 aniridia 8 | N4 Reference T4 MeSH:D015783 9 | T5 SpecificDisease 681 689 aniridia 10 | N5 Reference T5 MeSH:D015783 11 | -------------------------------------------------------------------------------- /standoff/test/9294109.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 18 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 114 132 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 134 136 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 DiseaseClass 158 175 muscular disorder 8 | N4 Reference T4 MeSH:D009135 9 | T5 Modifier 262 264 DM 10 | N5 Reference T5 MeSH:D009223 11 | -------------------------------------------------------------------------------- /standoff/test/9358014.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 95 121 hereditary hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 123 125 HH 4 | N2 Reference T2 MeSH:D006432 5 | T3 SpecificDisease 798 800 HH 6 | N3 Reference T3 MeSH:D006432 7 | T4 SpecificDisease 945 947 HH 8 | N4 Reference T4 MeSH:D006432 9 | T5 DiseaseClass 1048 1054 cancer 10 | N5 Reference T5 MeSH:D009369 11 | -------------------------------------------------------------------------------- /standoff/train/10712225.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 70 88 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 Modifier 186 188 HD 4 | N2 Reference T2 MeSH:D006816 5 | T3 SpecificDisease 404 422 Huntington disease 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 424 426 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 SpecificDisease 490 492 HD 10 | N5 Reference T5 MeSH:D006816 11 | -------------------------------------------------------------------------------- /standoff/train/2450401.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 27 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 110 137 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 Modifier 139 142 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 SpecificDisease 268 271 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 Modifier 408 411 DMD 10 | N5 Reference T5 MeSH:D020388 11 | -------------------------------------------------------------------------------- /standoff/test/9443866.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 21 Ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 SpecificDisease 215 228 breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | T3 Modifier 309 330 ataxia-telangiectasia 6 | N3 Reference T3 MeSH:D001260 7 | T4 Modifier 332 335 A-T 8 | N4 Reference T4 MeSH:D001260 9 | T5 Modifier 1236 1239 A-T 10 | N5 Reference T5 MeSH:D001260 11 | -------------------------------------------------------------------------------- /standoff/train/7795591.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 77 121 hereditary and non hereditary retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 SpecificDisease 194 208 retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 CompositeMention 283 326 hereditary or non hereditary retinoblastoma 6 | N3 Reference T3 MeSH:D012175 7 | T4 SpecificDisease 845 859 retinoblastoma 8 | N4 Reference T4 MeSH:D012175 9 | -------------------------------------------------------------------------------- /standoff/train/10830915.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 61 78 Friedreich ataxia 2 | N1 Reference T1 MeSH:D005621 3 | T2 SpecificDisease 80 97 Friedreich ataxia 4 | N2 Reference T2 MeSH:D005621 5 | T3 SpecificDisease 99 103 FRDA 6 | N3 Reference T3 MeSH:D005621 7 | T4 DiseaseClass 126 142 inherited ataxia 8 | N4 Reference T4 MeSH:D013132 9 | T5 Modifier 359 363 FRDA 10 | N5 Reference T5 MeSH:D005621 11 | -------------------------------------------------------------------------------- /standoff/train/1307245.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 36 50 Norrie disease 2 | N1 Reference T1 MeSH:C537849 3 | T2 SpecificDisease 111 134 X linked Norrie disease 4 | N2 Reference T2 MeSH:C537849 5 | T3 SpecificDisease 136 138 ND 6 | N3 Reference T3 MeSH:C537849 7 | T4 Modifier 271 273 ND 8 | N4 Reference T4 MeSH:C537849 9 | T5 SpecificDisease 944 958 Norrie disease 10 | N5 Reference T5 MeSH:C537849 11 | -------------------------------------------------------------------------------- /standoff/train/2910902.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 131 151 Lesch-Nyhan syndrome 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 162 222 deficiency of hypoxanthine-guanine phosphoribosyltransferase 4 | N2 Reference T2 MeSH:D007926 5 | T3 SpecificDisease 241 261 Lesch-Nyhan syndrome 6 | N3 Reference T3 MeSH:D007926 7 | T4 SpecificDisease 349 369 Lesch-Nyhan syndrome 8 | N4 Reference T4 MeSH:D007926 9 | -------------------------------------------------------------------------------- /standoff/train/3464560.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 113 140 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 241 268 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 270 273 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 Modifier 386 389 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 Modifier 423 426 DMD 10 | N5 Reference T5 MeSH:D020388 11 | -------------------------------------------------------------------------------- /standoff/train/7962532.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 8 53 cholesteryl ester transfer protein deficiency 2 | N1 Reference T1 OMIM:143470 3 | T2 SpecificDisease 307 359 cholesteryl ester transfer protein (CETP) deficiency 4 | N2 Reference T2 OMIM:143470 5 | T3 SpecificDisease 2289 2304 CETP deficiency 6 | N3 Reference T3 OMIM:143470 7 | T4 Modifier 2388 2406 genetic deficiency 8 | N4 Reference T4 MeSH:D030342 9 | -------------------------------------------------------------------------------- /standoff/devel/8696339.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 176 194 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 196 198 HD 4 | N2 Reference T2 MeSH:D006816 5 | T3 Modifier 430 432 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 709 711 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 DiseaseClass 723 758 disorder of inappropriate apoptosis 10 | N5 Reference T5 MeSH:D004194 11 | -------------------------------------------------------------------------------- /standoff/train/10541953.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 110 131 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 242 245 PWS 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 792 813 Prader-Willi syndrome 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 815 818 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 Modifier 1018 1021 PWS 10 | N5 Reference T5 MeSH:D011218 11 | -------------------------------------------------------------------------------- /standoff/train/1939657.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 38 56 metabolic disorder 2 | N1 Reference T1 MeSH:D008659 3 | T2 SpecificDisease 57 98 normotriglyceridemic abetalipoproteinemia 4 | N2 Reference T2 MeSH:D000012 5 | T3 SpecificDisease 141 182 normotriglyceridemic abetalipoproteinemia 6 | N3 Reference T3 MeSH:D000012 7 | T4 SpecificDisease 754 788 homozygous hypobetalipoproteinemia 8 | N4 Reference T4 MeSH:D006995 9 | -------------------------------------------------------------------------------- /standoff/train/3674116.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 9 30 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 101 122 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 124 127 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 340 343 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 SpecificDisease 500 503 PWS 10 | N5 Reference T5 MeSH:D011218 11 | -------------------------------------------------------------------------------- /standoff/train/7874163.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 35 57 Machado-Joseph disease 2 | N1 Reference T1 MeSH:D017827 3 | T2 SpecificDisease 196 218 Machado-Joseph disease 4 | N2 Reference T2 MeSH:D017827 5 | T3 SpecificDisease 220 223 MJD 6 | N3 Reference T3 MeSH:D017827 7 | T4 SpecificDisease 439 442 MJD 8 | N4 Reference T4 MeSH:D017827 9 | T5 SpecificDisease 698 701 MJD 10 | N5 Reference T5 MeSH:D017827 11 | -------------------------------------------------------------------------------- /standoff/train/8533768.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 24 40 bipolar disorder 2 | N1 Reference T1 MeSH:D001714 3 | T2 SpecificDisease 183 209 bipolar affective disorder 4 | N2 Reference T2 MeSH:D001714 5 | T3 SpecificDisease 211 215 BPAD 6 | N3 Reference T3 MeSH:D001714 7 | T4 Modifier 306 310 BPAD 8 | N4 Reference T4 MeSH:D001714 9 | T5 SpecificDisease 1345 1349 BPAD 10 | N5 Reference T5 MeSH:D001714 11 | -------------------------------------------------------------------------------- /standoff/train/1127526.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 13 Analbuminemia 2 | N1 Reference T1 OMIM:103600 3 | T2 SpecificDisease 78 91 analbuminemia 4 | N2 Reference T2 OMIM:103600 5 | T3 DiseaseClass 281 292 ankle edema 6 | N3 Reference T3 MeSH:D016512 7 | T4 DiseaseClass 297 312 ease of fatigue 8 | N4 Reference T4 MeSH:D005221 9 | T5 DiseaseClass 519 539 arterial hypotension 10 | N5 Reference T5 MeSH:D007022 11 | -------------------------------------------------------------------------------- /standoff/train/2016095.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 86 107 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 238 259 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 261 264 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 290 293 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 Modifier 451 463 Prader Willi 10 | N5 Reference T5 MeSH:D011218 11 | -------------------------------------------------------------------------------- /standoff/train/2601691.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 170 195 retinoblastoma (RB) tumor 2 | N1 Reference T1 MeSH:D012175 3 | T2 SpecificDisease 248 257 RB tumors 4 | N2 Reference T2 MeSH:D012175 5 | T3 SpecificDisease 409 418 RB tumors 6 | N3 Reference T3 MeSH:D012175 7 | T4 DiseaseClass 425 431 tumors 8 | N4 Reference T4 MeSH:D009369 9 | T5 SpecificDisease 924 933 RB tumors 10 | N5 Reference T5 MeSH:D012175 11 | -------------------------------------------------------------------------------- /standoff/train/3678494.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 32 59 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 237 264 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 266 269 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 Modifier 497 500 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 SpecificDisease 589 592 DMD 10 | N5 Reference T5 MeSH:D020388 11 | -------------------------------------------------------------------------------- /standoff/train/7951327.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 84 98 Wilson disease 2 | N1 Reference T1 MeSH:D006527 3 | T2 SpecificDisease 159 173 Wilson disease 4 | N2 Reference T2 MeSH:D006527 5 | T3 Modifier 287 301 Wilson disease 6 | N3 Reference T3 MeSH:D006527 7 | T4 SpecificDisease 635 649 Wilson disease 8 | N4 Reference T4 MeSH:D006527 9 | T5 SpecificDisease 743 757 Wilson disease 10 | N5 Reference T5 MeSH:D006527 11 | -------------------------------------------------------------------------------- /standoff/devel/8682510.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 24 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 Modifier 162 186 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | T3 SpecificDisease 259 262 WAS 6 | N3 Reference T3 MeSH:D014923 7 | T4 SpecificDisease 287 312 X-linked thrombocytopenia 8 | N4 Reference T4 OMIM:313900 9 | T5 Modifier 951 954 WAS 10 | N5 Reference T5 MeSH:D014923 11 | -------------------------------------------------------------------------------- /standoff/devel/9182899.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 37 50 C9 deficiency 2 | N1 Reference T1 OMIM:613825 3 | T2 Modifier 101 113 C9-deficient 4 | N2 Reference T2 OMIM:613825 5 | T3 Modifier 688 701 C9 deficiency 6 | N3 Reference T3 OMIM:613825 7 | T4 SpecificDisease 959 984 complete deficiency of C9 8 | N4 Reference T4 OMIM:613825 9 | T5 SpecificDisease 1064 1077 C9 deficiency 10 | N5 Reference T5 OMIM:613825 11 | -------------------------------------------------------------------------------- /standoff/test/9391879.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 55 76 breast/ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 127 148 breast/ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 Modifier 247 260 breast cancer 6 | N3 Reference T3 MeSH:D001943 7 | T4 Modifier 281 302 breast-ovarian cancer 8 | N4 Reference T4 MeSH:D061325 9 | T5 Modifier 835 856 breast/ovarian cancer 10 | N5 Reference T5 MeSH:D061325 11 | -------------------------------------------------------------------------------- /standoff/train/10947987.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 25 30 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 Modifier 75 101 adenomatous polyposis coli 4 | N2 Reference T2 MeSH:D011125 5 | T3 SpecificDisease 127 157 familial adenomatous polyposis 6 | N3 Reference T3 MeSH:D011125 7 | T4 SpecificDisease 174 191 colorectal tumors 8 | N4 Reference T4 MeSH:D015179 9 | T5 Modifier 202 205 APC 10 | N5 Reference T5 MeSH:D011125 11 | -------------------------------------------------------------------------------- /standoff/train/8370681.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 76 130 Autosomal dominant neurohypophyseal diabetes insipidus 2 | N1 Reference T1 OMIM:125700 3 | T2 DiseaseClass 153 171 diabetes insipidus 4 | N2 Reference T2 MeSH:D003919 5 | T3 DiseaseClass 256 274 diabetes insipidus 6 | N3 Reference T3 MeSH:D003919 7 | T4 SpecificDisease 365 419 autosomal dominant neurohypophyseal diabetes insipidus 8 | N4 Reference T4 OMIM:125700 9 | -------------------------------------------------------------------------------- /standoff/devel/8670333.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 43 71 familial Mediterranean fever 2 | N1 Reference T1 MeSH:D010505 3 | T2 SpecificDisease 233 261 familial Mediterranean fever 4 | N2 Reference T2 MeSH:D010505 5 | T3 SpecificDisease 263 266 FMF 6 | N3 Reference T3 MeSH:D010505 7 | T4 SpecificDisease 499 502 FMF 8 | N4 Reference T4 MeSH:D010505 9 | T5 SpecificDisease 1257 1260 FMF 10 | N5 Reference T5 MeSH:D010505 11 | -------------------------------------------------------------------------------- /standoff/train/10557317.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 13 28 hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 48 62 HFE deficiency 4 | N2 Reference T2 MeSH:D006432 5 | T3 SpecificDisease 136 151 hemochromatosis 6 | N3 Reference T3 MeSH:D006432 7 | T4 Modifier 666 679 HFE-deficient 8 | N4 Reference T4 MeSH:D006432 9 | T5 SpecificDisease 789 804 hemochromatosis 10 | N5 Reference T5 MeSH:D006432 11 | -------------------------------------------------------------------------------- /standoff/train/2703233.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 194 212 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 214 216 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 236 254 myotonic dystrophy 8 | N4 Reference T4 MeSH:D009223 9 | T5 SpecificDisease 527 545 myotonic dystrophy 10 | N5 Reference T5 MeSH:D009223 11 | -------------------------------------------------------------------------------- /standoff/train/7894493.ann: -------------------------------------------------------------------------------- 1 | T1 CompositeMention 66 91 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 250 263 breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | T3 Modifier 280 294 ovarian cancer 6 | N3 Reference T3 MeSH:D010051 7 | T4 DiseaseClass 325 331 cancer 8 | N4 Reference T4 MeSH:D009369 9 | T5 CompositeMention 894 919 breast and ovarian cancer 10 | N5 Reference T5 MeSH:D061325 11 | -------------------------------------------------------------------------------- /standoff/train/10631148.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 47 61 retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 SpecificDisease 106 131 hereditary retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 Modifier 229 243 retinoblastoma 6 | N3 Reference T3 MeSH:D012175 7 | T4 SpecificDisease 433 458 hereditary retinoblastoma 8 | N4 Reference T4 MeSH:D012175 9 | T5 Modifier 605 619 retinoblastoma 10 | N5 Reference T5 MeSH:D012175 11 | -------------------------------------------------------------------------------- /standoff/train/10078749.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 44 66 oromandibular dystonia 2 | N1 Reference T1 MeSH:D008538 3 | T2 SpecificDisease 146 168 oromandibular dystonia 4 | N2 Reference T2 MeSH:D008538 5 | T3 DiseaseClass 202 210 dystonia 6 | N3 Reference T3 MeSH:D004421 7 | T4 Modifier 359 367 dystonic 8 | N4 Reference T4 MeSH:D004421 9 | T5 SpecificDisease 392 416 dopa-responsive dystonia 10 | N5 Reference T5 MeSH:C538007 11 | -------------------------------------------------------------------------------- /standoff/train/2220826.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 22 43 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 Modifier 114 135 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 Modifier 346 348 AT 6 | N3 Reference T3 MeSH:D001260 7 | T4 Modifier 653 655 AT 8 | N4 Reference T4 MeSH:D001260 9 | T5 Modifier 740 742 AT 10 | N5 Reference T5 MeSH:D001260 11 | T6 Modifier 851 853 AT 12 | N6 Reference T6 MeSH:D001260 13 | -------------------------------------------------------------------------------- /standoff/train/7767095.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 31 49 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 Modifier 92 110 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 Modifier 112 114 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 156 158 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 SpecificDisease 364 366 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 516 518 DM 12 | N6 Reference T6 MeSH:D009223 13 | -------------------------------------------------------------------------------- /standoff/train/7964884.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 13 43 cerebrotendinous xanthomatosis 2 | N1 Reference T1 MeSH:D019294 3 | T2 SpecificDisease 329 359 cerebrotendinous xanthomatosis 4 | N2 Reference T2 MeSH:D019294 5 | T3 SpecificDisease 361 364 CTX 6 | N3 Reference T3 MeSH:D019294 7 | T4 SpecificDisease 1563 1566 CTX 8 | N4 Reference T4 MeSH:D019294 9 | T5 DiseaseClass 1835 1843 xanthoma 10 | N5 Reference T5 MeSH:D014973 11 | -------------------------------------------------------------------------------- /standoff/devel/8833159.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 252 288 benign familial neonatal convulsions 2 | N1 Reference T1 MeSH:D020936 3 | T2 SpecificDisease 290 340 autosomal dominant nocturnal frontal lobe epilepsy 4 | N2 Reference T2 MeSH:D017034 5 | T3 SpecificDisease 461 511 autosomal dominant nocturnal frontal lobe epilepsy 6 | N3 Reference T3 MeSH:D017034 7 | T4 DiseaseClass 1016 1037 idiopathic epilepsies 8 | N4 Reference T4 MeSH:D004827 9 | -------------------------------------------------------------------------------- /standoff/train/10021369.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 43 76 adenomatous polyposis coli tumour 2 | N1 Reference T1 MeSH:D011125 3 | T2 Modifier 93 132 adenomatous polyposis coli (APC) tumour 4 | N2 Reference T2 MeSH:D011125 5 | T3 Modifier 357 372 colon carcinoma 6 | N3 Reference T3 MeSH:D003110 7 | T4 Modifier 955 970 colon carcinoma 8 | N4 Reference T4 MeSH:D003110 9 | T5 SpecificDisease 1090 1096 cancer 10 | N5 Reference T5 MeSH:D009369 11 | -------------------------------------------------------------------------------- /standoff/train/1999552.txt: -------------------------------------------------------------------------------- 1 | Hereditary deficiency of C5 in association with discoid lupus erythematosus. 2 | A 29-year-old woman with discoid lupus erythematosus had undetectable classic pathway complement activity. Hypocomplementemia was due to selective deficiency of C5. One of her children was also deficient. To our knowledge this is the first documented case of an association between discoid lupus erythematosus and C5 deficiency.. 3 | -------------------------------------------------------------------------------- /standoff/train/2006152.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 30 45 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 334 349 phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 351 354 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 Modifier 647 650 PKU 8 | N4 Reference T4 MeSH:D010661 9 | T5 Modifier 948 951 PKU 10 | N5 Reference T5 MeSH:D010661 11 | T6 Modifier 1456 1459 PKU 12 | N6 Reference T6 MeSH:D010661 13 | -------------------------------------------------------------------------------- /standoff/train/2253938.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 422 437 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 552 567 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 596 611 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 963 978 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 1428 1443 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | -------------------------------------------------------------------------------- /standoff/train/7202134.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 20 Adrenoleukodystrophy 2 | N1 Reference T1 MeSH:D000326 3 | T2 Modifier 178 198 adrenoleukodystrophy 4 | N2 Reference T2 MeSH:D000326 5 | T3 Modifier 200 203 ALD 6 | N3 Reference T3 MeSH:D000326 7 | T4 Modifier 218 221 ALD 8 | N4 Reference T4 MeSH:D000326 9 | T5 Modifier 251 254 ALD 10 | N5 Reference T5 MeSH:D000326 11 | T6 Modifier 575 578 ALD 12 | N6 Reference T6 MeSH:D000326 13 | -------------------------------------------------------------------------------- /standoff/devel/8812423.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 51 58 lipomas 2 | N1 Reference T1 MeSH:D008067 3 | T2 DiseaseClass 142 149 lipomas 4 | N2 Reference T2 MeSH:D008067 5 | T3 Modifier 708 714 lipoma 6 | N3 Reference T3 MeSH:D008067 7 | T4 Modifier 793 799 lipoma 8 | N4 Reference T4 MeSH:D008067 9 | T5 Modifier 1835 1841 lipoma 10 | N5 Reference T5 MeSH:D008067 11 | T6 DiseaseClass 1857 1872 primary lipomas 12 | N6 Reference T6 MeSH:D008067 13 | -------------------------------------------------------------------------------- /standoff/train/10466420.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 97 118 diastrophic dysplasia 2 | N1 Reference T1 MeSH:C536170 3 | T2 DiseaseClass 160 177 chondrodysplasias 4 | N2 Reference T2 MeSH:D010009 5 | T3 SpecificDisease 262 283 diastrophic dysplasia 6 | N3 Reference T3 MeSH:C536170 7 | T4 DiseaseClass 340 353 platyspondyly 8 | N4 Reference T4 MeSH:D013122 9 | T5 SpecificDisease 431 451 metatropic dysplasia 10 | N5 Reference T5 MeSH:C537356 11 | -------------------------------------------------------------------------------- /standoff/train/1307230.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 40 57 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 163 180 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 182 185 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 303 306 TSD 8 | N4 Reference T4 MeSH:D013661 9 | T5 Modifier 476 479 TSD 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 694 697 TSD 12 | N6 Reference T6 MeSH:D013661 13 | -------------------------------------------------------------------------------- /standoff/train/1483696.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 52 69 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 155 172 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 174 177 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 278 281 TSD 8 | N4 Reference T4 MeSH:D013661 9 | T5 Modifier 699 702 TSD 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 1369 1372 TSD 12 | N6 Reference T6 MeSH:D013661 13 | -------------------------------------------------------------------------------- /standoff/train/1733838.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 29 43 Norrie disease 2 | N1 Reference T1 MeSH:C537849 3 | T2 SpecificDisease 264 278 Norrie disease 4 | N2 Reference T2 MeSH:C537849 5 | T3 SpecificDisease 280 283 NDP 6 | N3 Reference T3 MeSH:C537849 7 | T4 Modifier 349 352 NDP 8 | N4 Reference T4 MeSH:C537849 9 | T5 Modifier 415 418 NDP 10 | N5 Reference T5 MeSH:C537849 11 | T6 Modifier 504 507 NDP 12 | N6 Reference T6 MeSH:C537849 13 | -------------------------------------------------------------------------------- /standoff/train/8326491.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 106 123 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 193 210 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 212 215 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 555 558 TSD 8 | N4 Reference T4 MeSH:D013661 9 | T5 Modifier 822 825 TSD 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 945 948 TSD 12 | N6 Reference T6 MeSH:D013661 13 | -------------------------------------------------------------------------------- /standoff/train/8554067.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 42 63 breast-ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 94 115 breast-ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 Modifier 280 305 breast and ovarian cancer 6 | N3 Reference T3 MeSH:D061325 7 | T4 SpecificDisease 387 405 male breast cancer 8 | N4 Reference T4 MeSH:D018567 9 | T5 SpecificDisease 1154 1177 breast-ovarian syndrome 10 | N5 Reference T5 MeSH:D061325 11 | -------------------------------------------------------------------------------- /standoff/train/10078749.txt: -------------------------------------------------------------------------------- 1 | GCH1 mutation in a patient with adult-onset oromandibular dystonia. 2 | The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia. 3 | -------------------------------------------------------------------------------- /standoff/train/1319059.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 50 77 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 131 158 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 Modifier 160 163 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 Modifier 360 363 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 Modifier 535 538 DMD 10 | N5 Reference T5 MeSH:D020388 11 | T6 Modifier 884 887 DMD 12 | N6 Reference T6 MeSH:D020388 13 | -------------------------------------------------------------------------------- /standoff/train/2912069.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 218 233 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 636 651 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 699 726 G6PD Seattle-like phenotype 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 745 760 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 825 840 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | -------------------------------------------------------------------------------- /standoff/train/3659917.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 20 47 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 90 117 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 Modifier 119 122 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 Modifier 268 271 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 Modifier 458 461 DMD 10 | N5 Reference T5 MeSH:D020388 11 | T6 Modifier 624 627 DMD 12 | N6 Reference T6 MeSH:D020388 13 | -------------------------------------------------------------------------------- /standoff/test/9425228.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 52 60 melanoma 2 | N1 Reference T1 MeSH:D008545 3 | T2 Modifier 98 115 Familial Melanoma 4 | N2 Reference T2 MeSH:D008545 5 | T3 Modifier 208 216 melanoma 6 | N3 Reference T3 MeSH:D008545 7 | T4 Modifier 321 329 melanoma 8 | N4 Reference T4 MeSH:D008545 9 | T5 SpecificDisease 949 966 familial melanoma 10 | N5 Reference T5 MeSH:D008545 11 | T6 Modifier 1010 1018 melanoma 12 | N6 Reference T6 MeSH:D008545 13 | -------------------------------------------------------------------------------- /standoff/test/9831355.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 59 101 hereditary non-polyposis colorectal cancer 2 | N1 Reference T1 MeSH:D003123 3 | T2 Modifier 133 175 hereditary non-polyposis colorectal cancer 4 | N2 Reference T2 MeSH:D003123 5 | T3 Modifier 177 182 HNPCC 6 | N3 Reference T3 MeSH:D003123 7 | T4 SpecificDisease 325 342 colorectal cancer 8 | N4 Reference T4 MeSH:D015179 9 | T5 DiseaseClass 622 628 cancer 10 | N5 Reference T5 MeSH:D009369 11 | -------------------------------------------------------------------------------- /standoff/train/1424237.txt: -------------------------------------------------------------------------------- 1 | Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. 2 | Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.. 3 | -------------------------------------------------------------------------------- /standoff/train/6902670.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 36 Familial discoid lupus erythematosus 2 | N1 Reference T1 MeSH:D008179 3 | T2 SpecificDisease 66 79 C2 deficiency 4 | N2 Reference T2 OMIM:217000 5 | T3 SpecificDisease 99 134 chronic discoid lupus erythematosus 6 | N3 Reference T3 MeSH:D008179 7 | T4 SpecificDisease 191 204 C2 deficiency 8 | N4 Reference T4 OMIM:217000 9 | T5 Modifier 407 420 C2 deficiency 10 | N5 Reference T5 OMIM:217000 11 | -------------------------------------------------------------------------------- /standoff/train/7769092.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 986 1002 VLCAD deficiency 2 | N1 Reference T1 MeSH:C536353 3 | T2 SpecificDisease 1145 1161 VLCAD deficiency 4 | N2 Reference T2 MeSH:C536353 5 | T3 DiseaseClass 1172 1187 cardiac disease 6 | N3 Reference T3 MeSH:D006331 7 | T4 SpecificDisease 1226 1253 hypertrophic cardiomyopathy 8 | N4 Reference T4 MeSH:D002312 9 | T5 DiseaseClass 1422 1437 cardiac disease 10 | N5 Reference T5 MeSH:D006331 11 | -------------------------------------------------------------------------------- /standoff/test/9856498.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 23 36 C6 deficiency 2 | N1 Reference T1 OMIM:612446 3 | T2 SpecificDisease 72 125 Deficiency of the sixth component of human complement 4 | N2 Reference T2 OMIM:612446 5 | T3 SpecificDisease 210 231 Meningococcal disease 6 | N3 Reference T3 MeSH:D008589 7 | T4 SpecificDisease 289 302 C6 deficiency 8 | N4 Reference T4 OMIM:612446 9 | T5 Modifier 1150 1162 C6-deficient 10 | N5 Reference T5 OMIM:612446 11 | -------------------------------------------------------------------------------- /standoff/train/10698963.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 339 354 G6PD deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 381 406 episodic hemolytic anemia 4 | N2 Reference T2 MeSH:D000743 5 | T3 SpecificDisease 452 478 life-long hemolytic anemia 6 | N3 Reference T3 MeSH:D000745 7 | T4 SpecificDisease 791 806 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 1082 1097 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | -------------------------------------------------------------------------------- /standoff/train/1301937.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 46 hexosaminidase A deficiency 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 148 165 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 167 170 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 231 234 TSD 8 | N4 Reference T4 MeSH:D013661 9 | T5 Modifier 324 327 TSD 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 673 676 TSD 12 | N6 Reference T6 MeSH:D013661 13 | -------------------------------------------------------------------------------- /standoff/train/2404853.txt: -------------------------------------------------------------------------------- 1 | A normal male with an inherited deletion of one exon within the DMD gene. 2 | We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18. These results have implications for genetic counselling and prenatal diagnosis in families with Becker muscular dystrophy.. 3 | -------------------------------------------------------------------------------- /standoff/train/2862466.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 56 91 autoimmune chronic active hepatitis 2 | N1 Reference T1 MeSH:D006521 3 | T2 SpecificDisease 113 148 autoimmune chronic active hepatitis 4 | N2 Reference T2 MeSH:D006521 5 | T3 SpecificDisease 150 153 CAH 6 | N3 Reference T3 MeSH:D006521 7 | T4 SpecificDisease 709 712 CAH 8 | N4 Reference T4 MeSH:D006521 9 | T5 SpecificDisease 997 1010 C4 deficiency 10 | N5 Reference T5 OMIM:614380+OMIM:614379 11 | -------------------------------------------------------------------------------- /standoff/train/8281142.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 163 184 breast/ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 Modifier 409 422 breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | T3 Modifier 724 737 breast tumour 6 | N3 Reference T3 MeSH:D001943 7 | T4 DiseaseClass 811 818 tumours 8 | N4 Reference T4 MeSH:D009369 9 | T5 DiseaseClass 847 853 tumour 10 | N5 Reference T5 MeSH:D009369 11 | T6 Modifier 917 923 tumour 12 | N6 Reference T6 MeSH:D009369 13 | -------------------------------------------------------------------------------- /standoff/devel/8622978.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 26 40 von Willebrand 2 | N1 Reference T1 MeSH:D014842 3 | T2 SpecificDisease 88 119 type IID von Willebrand disease 4 | N2 Reference T2 MeSH:D056728 5 | T3 Modifier 180 194 von Willebrand 6 | N3 Reference T3 MeSH:D014842 7 | T4 SpecificDisease 260 291 type IID von Willebrand disease 8 | N4 Reference T4 MeSH:D056728 9 | T5 SpecificDisease 1405 1436 type IID von Willebrand disease 10 | N5 Reference T5 MeSH:D056728 11 | -------------------------------------------------------------------------------- /standoff/devel/8723064.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 69 90 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 329 350 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 352 355 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 392 395 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 Modifier 673 676 PWS 10 | N5 Reference T5 MeSH:D011218 11 | T6 Modifier 742 745 PWS 12 | N6 Reference T6 MeSH:D011218 13 | -------------------------------------------------------------------------------- /standoff/train/10888879.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 60 80 retinal degeneration 2 | N1 Reference T1 MeSH:D012162 3 | T2 DiseaseClass 563 588 photoreceptor dystrophies 4 | N2 Reference T2 MeSH:D058499 5 | T3 SpecificDisease 600 639 autosomal dominant retinitis pigmentosa 6 | N3 Reference T3 MeSH:D012174 7 | T4 SpecificDisease 644 661 macular dystrophy 8 | N4 Reference T4 MeSH:D008268 9 | T5 Modifier 754 774 retinal degeneration 10 | N5 Reference T5 MeSH:D012162 11 | -------------------------------------------------------------------------------- /standoff/train/1973404.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 11 33 aspartylglucosaminuria 2 | N1 Reference T1 MeSH:D054880 3 | T2 SpecificDisease 35 38 AGU 4 | N2 Reference T2 MeSH:D054880 5 | T3 SpecificDisease 88 110 Aspartylglucosaminuria 6 | N3 Reference T3 MeSH:D054880 7 | T4 SpecificDisease 112 115 AGU 8 | N4 Reference T4 MeSH:D054880 9 | T5 Modifier 604 607 AGU 10 | N5 Reference T5 MeSH:D054880 11 | T6 Modifier 806 809 AGU 12 | N6 Reference T6 MeSH:D054880 13 | -------------------------------------------------------------------------------- /standoff/train/6086495.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 20 45 Becker muscular dystrophy 2 | N1 Reference T1 MeSH:C537666 3 | T2 SpecificDisease 146 171 Becker muscular dystrophy 4 | N2 Reference T2 MeSH:C537666 5 | T3 SpecificDisease 173 176 BMD 6 | N3 Reference T3 MeSH:C537666 7 | T4 Modifier 329 332 BMD 8 | N4 Reference T4 MeSH:C537666 9 | T5 CompositeMention 420 451 Becker and Duchenne dystrophies 10 | N5 Reference T5 MeSH:D020388 11 | N6 Reference T5 MeSH:C537666 12 | -------------------------------------------------------------------------------- /standoff/train/8375105.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 24 51 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 189 216 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 218 221 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 Modifier 304 307 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 Modifier 358 361 DMD 10 | N5 Reference T5 MeSH:D020388 11 | T6 Modifier 551 554 DMD 12 | N6 Reference T6 MeSH:D020388 13 | -------------------------------------------------------------------------------- /standoff/test/9590284.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 18 39 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 283 304 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 306 309 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 373 376 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 SpecificDisease 546 549 PWS 10 | N5 Reference T5 MeSH:D011218 11 | T6 Modifier 754 757 PWS 12 | N6 Reference T6 MeSH:D011218 13 | -------------------------------------------------------------------------------- /standoff/test/9600235.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 47 68 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 DiseaseClass 280 297 recessive disease 4 | N2 Reference T2 MeSH:D030342 5 | T3 SpecificDisease 298 319 ataxia-telangiectasia 6 | N3 Reference T3 MeSH:D001260 7 | T4 SpecificDisease 321 324 A-T 8 | N4 Reference T4 MeSH:D001260 9 | T5 Modifier 401 404 A-T 10 | N5 Reference T5 MeSH:D001260 11 | T6 Modifier 555 558 A-T 12 | N6 Reference T6 MeSH:D001260 13 | -------------------------------------------------------------------------------- /standoff/train/10502833.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 112 123 argininemia 2 | N1 Reference T1 MeSH:D020162 3 | T2 SpecificDisease 125 136 Argininemia 4 | N2 Reference T2 MeSH:D020162 5 | T3 DiseaseClass 147 176 autossomal recessive disorder 6 | N3 Reference T3 MeSH:D030342 7 | T4 DiseaseClass 187 241 deficiency in the cytosolic liver-type arginase enzyme 8 | N4 Reference T4 MeSH:D020162 9 | T5 SpecificDisease 337 348 argininemia 10 | N5 Reference T5 MeSH:D020162 11 | -------------------------------------------------------------------------------- /standoff/train/2562820.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 51 69 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 DiseaseClass 319 337 muscular dystrophy 4 | N2 Reference T2 MeSH:D009136 5 | T3 SpecificDisease 339 357 myotonic dystrophy 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 359 361 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 487 489 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 1529 1531 DM 12 | N6 Reference T6 MeSH:D009223 13 | -------------------------------------------------------------------------------- /standoff/train/7762560.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 30 48 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 Modifier 246 264 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 380 398 myotonic dystrophy 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 400 402 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 1254 1256 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 SpecificDisease 1344 1346 DM 12 | N6 Reference T6 MeSH:D009223 13 | -------------------------------------------------------------------------------- /standoff/devel/9223312.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 116 141 alveolar rhabdomyosarcoma 2 | N1 Reference T1 MeSH:D018232 3 | T2 CompositeMention 184 214 hematopoietic and solid tumors 4 | N2 Reference T2 MeSH:D019337 5 | T3 DiseaseClass 344 355 solid tumor 6 | N3 Reference T3 MeSH:D009369 7 | T4 SpecificDisease 356 381 alveolar rhabdomyosarcoma 8 | N4 Reference T4 MeSH:D018232 9 | T5 SpecificDisease 1026 1051 alveolar rhabdomyosarcoma 10 | N5 Reference T5 MeSH:D018232 11 | -------------------------------------------------------------------------------- /standoff/train/10891444.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 77 103 congenital afibrinogenemia 2 | N1 Reference T1 MeSH:C531603 3 | T2 SpecificDisease 105 131 Congenital afibrinogenemia 4 | N2 Reference T2 MeSH:C531603 5 | T3 DiseaseClass 143 172 autosomal, recessive disorder 6 | N3 Reference T3 MeSH:D030342 7 | T4 Modifier 1271 1286 afibrinogenemia 8 | N4 Reference T4 MeSH:D000347 9 | T5 SpecificDisease 1437 1463 congenital afibrinogenemia 10 | N5 Reference T5 MeSH:C531603 11 | -------------------------------------------------------------------------------- /standoff/train/8101038.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 64 107 late-infantile metachromatic leukodystrophy 2 | N1 Reference T1 MeSH:D007966 3 | T2 SpecificDisease 148 191 late-infantile metachromatic leukodystrophy 4 | N2 Reference T2 MeSH:D007966 5 | T3 SpecificDisease 193 196 MLD 6 | N3 Reference T3 MeSH:D007966 7 | T4 Modifier 356 365 adult MLD 8 | N4 Reference T4 MeSH:D007966 9 | T5 SpecificDisease 958 984 late-infantile type of MLD 10 | N5 Reference T5 MeSH:D007966 11 | -------------------------------------------------------------------------------- /standoff/train/8195156.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 222 264 hereditary glucose/galactose malabsorption 2 | N1 Reference T1 OMIM:606824 3 | T2 SpecificDisease 301 309 diarrhea 4 | N2 Reference T2 MeSH:D003967 5 | T3 SpecificDisease 404 412 diarrhea 6 | N3 Reference T3 MeSH:D003967 7 | T4 SpecificDisease 1098 1129 glucose/galactose malabsorption 8 | N4 Reference T4 OMIM:606824 9 | T5 Modifier 1265 1296 glucose/galactose malabsorption 10 | N5 Reference T5 OMIM:606824 11 | -------------------------------------------------------------------------------- /standoff/train/1679035.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 29 57 familial Mediterranean fever 2 | N1 Reference T1 MeSH:D010505 3 | T2 SpecificDisease 174 202 familial Mediterranean fever 4 | N2 Reference T2 MeSH:D010505 5 | T3 SpecificDisease 204 207 FMF 6 | N3 Reference T3 MeSH:D010505 7 | T4 Modifier 412 415 FMF 8 | N4 Reference T4 MeSH:D010505 9 | T5 SpecificDisease 536 539 FMF 10 | N5 Reference T5 MeSH:D010505 11 | T6 Modifier 678 681 FMF 12 | N6 Reference T6 MeSH:D010505 13 | -------------------------------------------------------------------------------- /standoff/train/8187068.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 74 99 advanced prostate cancers 2 | N1 Reference T1 MeSH:D011471 3 | T2 SpecificDisease 183 209 metastatic prostate cancer 4 | N2 Reference T2 MeSH:D011471 5 | T3 Modifier 558 584 metastatic prostate cancer 6 | N3 Reference T3 MeSH:D011471 7 | T4 SpecificDisease 954 978 advanced prostate cancer 8 | N4 Reference T4 MeSH:D011471 9 | T5 SpecificDisease 1096 1120 advanced prostate cancer 10 | N5 Reference T5 MeSH:D011471 11 | -------------------------------------------------------------------------------- /standoff/devel/8755645.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 78 102 inherited human disorder 2 | N1 Reference T1 MeSH:D030342 3 | T2 SpecificDisease 104 120 fish-eye disease 4 | N2 Reference T2 MeSH:D007863 5 | T3 SpecificDisease 453 469 fish-eye disease 6 | N3 Reference T3 MeSH:D007863 7 | T4 SpecificDisease 471 474 FED 8 | N4 Reference T4 MeSH:D007863 9 | T5 Modifier 737 740 FED 10 | N5 Reference T5 MeSH:D007863 11 | T6 SpecificDisease 1168 1171 FED 12 | N6 Reference T6 MeSH:D007863 13 | -------------------------------------------------------------------------------- /standoff/train/10426139.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 35 50 McLeod syndrome 2 | N1 Reference T1 OMIM:300842 3 | T2 SpecificDisease 152 167 McLeod syndrome 4 | N2 Reference T2 OMIM:300842 5 | T3 DiseaseClass 206 222 muscular atrophy 6 | N3 Reference T3 MeSH:D009133 7 | T4 DiseaseClass 224 240 choreic movement 8 | N4 Reference T4 MeSH:D002819 9 | T5 SpecificDisease 289 303 acanthocytosis 10 | N5 Reference T5 MeSH:D000012 11 | T6 Modifier 690 696 McLeod 12 | N6 Reference T6 OMIM:300842 13 | -------------------------------------------------------------------------------- /standoff/train/10441343.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 7 29 Machado-Joseph disease 2 | N1 Reference T1 MeSH:D017827 3 | T2 DiseaseClass 180 210 trinucleotide repeat disorders 4 | N2 Reference T2 MeSH:D030342 5 | T3 SpecificDisease 296 318 Machado-Joseph disease 6 | N3 Reference T3 MeSH:D017827 7 | T4 SpecificDisease 320 323 MJD 8 | N4 Reference T4 MeSH:D017827 9 | T5 Modifier 452 455 MJD 10 | N5 Reference T5 MeSH:D017827 11 | T6 Modifier 1588 1591 MJD 12 | N6 Reference T6 MeSH:D017827 13 | -------------------------------------------------------------------------------- /standoff/train/1282899.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 173 184 Lesch-Nyhan 2 | N1 Reference T1 MeSH:D007926 3 | T2 SpecificDisease 276 296 Lesch-Nyhan syndrome 4 | N2 Reference T2 MeSH:D007926 5 | T3 SpecificDisease 309 378 complete deficiency of hypoxanthine guanine phosphoribosyltransferase 6 | N3 Reference T3 MeSH:D007926 7 | T4 SpecificDisease 643 663 Lesch-Nyhan syndrome 8 | N4 Reference T4 MeSH:D007926 9 | T5 Modifier 1189 1203 HPRT deficient 10 | N5 Reference T5 MeSH:D007926 11 | -------------------------------------------------------------------------------- /standoff/train/1353340.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 11 39 metachromatic leukodystrophy 2 | N1 Reference T1 MeSH:D007966 3 | T2 SpecificDisease 159 187 metachromatic leukodystrophy 4 | N2 Reference T2 MeSH:D007966 5 | T3 SpecificDisease 189 192 MLD 6 | N3 Reference T3 MeSH:D007966 7 | T4 SpecificDisease 363 366 MLD 8 | N4 Reference T4 MeSH:D007966 9 | T5 Modifier 576 579 MLD 10 | N5 Reference T5 MeSH:D007966 11 | T6 SpecificDisease 712 715 MLD 12 | N6 Reference T6 MeSH:D007966 13 | -------------------------------------------------------------------------------- /standoff/train/1562739.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 99 165 Glucose-6-PHOSPHATE dehydrogenase (G6PD; EC 1.1. 1. 49) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 DiseaseClass 191 202 enzymopathy 4 | N2 Reference T2 MeSH:D008661 5 | T3 SpecificDisease 404 421 G6PD deficiencies 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 1952 1967 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 2243 2258 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | -------------------------------------------------------------------------------- /standoff/train/7493024.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 40 65 breast and ovarian cancer 2 | N1 Reference T1 MeSH:D061325 3 | T2 SpecificDisease 226 239 breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | T3 CompositeMention 288 316 breast and/or ovarian cancer 6 | N3 Reference T3 MeSH:D061325 7 | T4 Modifier 560 584 breast to ovarian cancer 8 | N4 Reference T4 MeSH:D001943 9 | N5 Reference T4 MeSH:D010051 10 | T5 SpecificDisease 742 756 ovarian cancer 11 | N6 Reference T5 MeSH:D010051 12 | -------------------------------------------------------------------------------- /standoff/devel/8621452.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 38 Type II human complement C2 deficiency 2 | N1 Reference T1 OMIM:217000 3 | T2 SpecificDisease 143 183 Type II complement protein C2 deficiency 4 | N2 Reference T2 OMIM:217000 5 | T3 SpecificDisease 376 396 Type I C2 deficiency 6 | N3 Reference T3 OMIM:217000 7 | T4 SpecificDisease 434 452 Type II deficiency 8 | N4 Reference T4 OMIM:217000 9 | T5 SpecificDisease 656 677 Type II C2 deficiency 10 | N5 Reference T5 OMIM:217000 11 | -------------------------------------------------------------------------------- /standoff/test/9420335.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 9 tumor 2 | N1 Reference T1 MeSH:D009369 3 | T2 Modifier 150 155 tumor 4 | N2 Reference T2 MeSH:D009369 5 | T3 SpecificDisease 254 272 pancreatic cancers 6 | N3 Reference T3 MeSH:D010190 7 | T4 DiseaseClass 475 493 Growth retardation 8 | N4 Reference T4 MeSH:D005317 9 | T5 SpecificDisease 681 700 gastrulation defect 10 | N5 Reference T5 MeSH:D004194 11 | T6 SpecificDisease 820 839 gastrulation defect 12 | N6 Reference T6 MeSH:D004194 13 | -------------------------------------------------------------------------------- /standoff/train/7607677.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 30 Mucopolysaccharidosis type IVA 2 | N1 Reference T1 OMIM:253000 3 | T2 SpecificDisease 110 135 Mucopolysaccharidosis IVA 4 | N2 Reference T2 OMIM:253000 5 | T3 SpecificDisease 137 144 MPS IVA 6 | N3 Reference T3 OMIM:253000 7 | T4 DiseaseClass 152 180 autosomal recessive disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 193 240 deficiency in N-acetylgalactosamine-6-sulfatase 10 | N5 Reference T5 MeSH:D009085 11 | -------------------------------------------------------------------------------- /standoff/devel/8808605.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 154 171 enzyme deficiency 2 | N1 Reference T1 MeSH:D008661 3 | T2 SpecificDisease 376 427 glucose-6-phosphate dehydrogenase (G6PD) deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 572 611 chronic nonspherocytic hemolytic anemia 6 | N3 Reference T3 MeSH:D000746 7 | T4 SpecificDisease 677 692 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 1368 1383 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | -------------------------------------------------------------------------------- /standoff/train/1279971.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 55 65 piebaldism 2 | N1 Reference T1 MeSH:D016116 3 | T2 SpecificDisease 103 113 piebaldism 4 | N2 Reference T2 MeSH:D016116 5 | T3 SpecificDisease 289 299 piebaldism 6 | N3 Reference T3 MeSH:D016116 7 | T4 DiseaseClass 301 319 mental retardation 8 | N4 Reference T4 MeSH:D008607 9 | T5 DiseaseClass 325 354 multiple congenital anomalies 10 | N5 Reference T5 MeSH:D000013 11 | T6 Modifier 786 793 piebald 12 | N6 Reference T6 MeSH:D016116 13 | -------------------------------------------------------------------------------- /standoff/train/133535.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 20 33 C2 deficiency 2 | N1 Reference T1 OMIM:217000 3 | T2 SpecificDisease 150 163 C2 deficiency 4 | N2 Reference T2 OMIM:217000 5 | T3 Modifier 257 269 C2-deficient 6 | N3 Reference T3 OMIM:217000 7 | T4 SpecificDisease 313 329 Hodgkins disease 8 | N4 Reference T4 MeSH:D006689 9 | T5 SpecificDisease 479 492 C2 deficiency 10 | N5 Reference T5 OMIM:217000 11 | T6 SpecificDisease 621 634 C2 deficiency 12 | N6 Reference T6 OMIM:217000 13 | -------------------------------------------------------------------------------- /standoff/train/1717985.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 83 93 piebaldism 2 | N1 Reference T1 MeSH:D016116 3 | T2 SpecificDisease 95 105 Piebaldism 4 | N2 Reference T2 MeSH:D016116 5 | T3 DiseaseClass 112 147 autosomal dominant genetic disorder 6 | N3 Reference T3 MeSH:D030342 7 | T4 SpecificDisease 495 505 piebaldism 8 | N4 Reference T4 MeSH:D016116 9 | T5 Modifier 697 704 piebald 10 | N5 Reference T5 MeSH:D016116 11 | T6 SpecificDisease 739 749 Piebaldism 12 | N6 Reference T6 MeSH:D016116 13 | -------------------------------------------------------------------------------- /standoff/train/1731805.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 43 84 normotriglyceridemic abetalipoproteinemia 2 | N1 Reference T1 MeSH:D000012 3 | T2 SpecificDisease 143 184 Normotriglyceridemic abetalipoproteinemia 4 | N2 Reference T2 MeSH:D000012 5 | T3 DiseaseClass 195 212 familial disorder 6 | N3 Reference T3 MeSH:D009358 7 | T4 SpecificDisease 242 264 deficiency of apoB-100 8 | N4 Reference T4 OMIM:200100 9 | T5 DiseaseClass 380 401 genetic abnormalities 10 | N5 Reference T5 MeSH:D030342 11 | -------------------------------------------------------------------------------- /standoff/train/7316485.txt: -------------------------------------------------------------------------------- 1 | New genetic variants of glucose 6-phosphate dehydrogenase (G6PD) in Italy. 2 | Six new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.. 3 | -------------------------------------------------------------------------------- /standoff/train/10449429.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 88 115 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 117 120 DMD 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 512 515 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 DiseaseClass 1005 1020 muscular injury 8 | N4 Reference T4 MeSH:D014947 9 | T5 SpecificDisease 1245 1263 muscular dystrophy 10 | N5 Reference T5 MeSH:D009136 11 | T6 SpecificDisease 1392 1395 DMD 12 | N6 Reference T6 MeSH:D020388 13 | -------------------------------------------------------------------------------- /standoff/train/1302032.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Fragile X syndrome 2 | N1 Reference T1 MeSH:D005600 3 | T2 SpecificDisease 127 145 fragile X syndrome 4 | N2 Reference T2 MeSH:D005600 5 | T3 SpecificDisease 189 198 fragile X 6 | N3 Reference T3 MeSH:D005600 7 | T4 Modifier 448 457 fragile X 8 | N4 Reference T4 MeSH:D005600 9 | T5 SpecificDisease 552 561 fragile X 10 | N5 Reference T5 MeSH:D005600 11 | T6 SpecificDisease 572 590 fragile X syndrome 12 | N6 Reference T6 MeSH:D005600 13 | -------------------------------------------------------------------------------- /standoff/train/2544995.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 147 164 familial aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 Modifier 272 276 WAGR 4 | N2 Reference T2 MeSH:D017624 5 | T3 SpecificDisease 286 297 Wilms tumor 6 | N3 Reference T3 MeSH:D009396 7 | T4 SpecificDisease 299 307 aniridia 8 | N4 Reference T4 MeSH:D015783 9 | T5 DiseaseClass 309 336 genitourinary abnormalities 10 | N5 Reference T5 MeSH:D014564 11 | T6 DiseaseClass 342 360 mental retardation 12 | N6 Reference T6 MeSH:D008607 13 | -------------------------------------------------------------------------------- /standoff/train/7550229.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 30 42 galactosemia 2 | N1 Reference T1 MeSH:D005693 3 | T2 SpecificDisease 201 216 GALT deficiency 4 | N2 Reference T2 MeSH:D005693 5 | T3 SpecificDisease 843 858 GALT deficiency 6 | N3 Reference T3 MeSH:D005693 7 | T4 Modifier 1209 1229 classic galactosemia 8 | N4 Reference T4 MeSH:D005693 9 | T5 Modifier 1322 1334 galactosemia 10 | N5 Reference T5 MeSH:D005693 11 | T6 Modifier 1481 1501 classic galactosemia 12 | N6 Reference T6 MeSH:D005693 13 | -------------------------------------------------------------------------------- /standoff/train/8346255.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 47 53 tumors 2 | N1 Reference T1 MeSH:D009369 3 | T2 CompositeMention 73 112 bilateral and unilateral retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 SpecificDisease 141 162 retinoblastoma tumors 6 | N3 Reference T3 MeSH:D012175 7 | T4 DiseaseClass 282 288 tumors 8 | N4 Reference T4 MeSH:D009369 9 | T5 DiseaseClass 311 317 tumors 10 | N5 Reference T5 MeSH:D009369 11 | T6 DiseaseClass 480 486 tumors 12 | N6 Reference T6 MeSH:D009369 13 | -------------------------------------------------------------------------------- /standoff/train/10205262.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 12 24 alkaptonuria 2 | N1 Reference T1 MeSH:D000474 3 | T2 Modifier 26 29 AKU 4 | N2 Reference T2 MeSH:D000474 5 | T3 SpecificDisease 193 205 alkaptonuria 6 | N3 Reference T3 MeSH:D000474 7 | T4 SpecificDisease 207 210 AKU 8 | N4 Reference T4 MeSH:D000474 9 | T5 Modifier 375 378 AKU 10 | N5 Reference T5 MeSH:D000474 11 | T6 Modifier 513 516 AKU 12 | N6 Reference T6 MeSH:D000474 13 | T7 SpecificDisease 653 656 AKU 14 | N7 Reference T7 MeSH:D000474 15 | -------------------------------------------------------------------------------- /standoff/train/10827108.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 58 86 Pelizaeus-Merzbacher disease 2 | N1 Reference T1 OMIM:312080 3 | T2 SpecificDisease 275 303 Pelizaeus-Merzbacher disease 4 | N2 Reference T2 OMIM:312080 5 | T3 SpecificDisease 305 308 PMD 6 | N3 Reference T3 OMIM:312080 7 | T4 SpecificDisease 374 377 PMD 8 | N4 Reference T4 OMIM:312080 9 | T5 SpecificDisease 894 897 PMD 10 | N5 Reference T5 OMIM:312080 11 | T6 DiseaseClass 1449 1466 genetic disorders 12 | N6 Reference T6 MeSH:D030342 13 | -------------------------------------------------------------------------------- /standoff/train/2390095.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 61 Total deficiency of plasma cholesteryl ester transfer protein 2 | N1 Reference T1 OMIM:143470 3 | T2 SpecificDisease 160 212 cholesteryl ester transfer protein (CETP) deficiency 4 | N2 Reference T2 OMIM:143470 5 | T3 Modifier 245 259 CETP-deficient 6 | N3 Reference T3 OMIM:143470 7 | T4 DiseaseClass 980 995 genetic defects 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 1133 1148 CETP deficiency 10 | N5 Reference T5 OMIM:143470 11 | -------------------------------------------------------------------------------- /standoff/train/3012567.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 83 104 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 218 239 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 241 244 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 704 707 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 SpecificDisease 1215 1218 PWS 10 | N5 Reference T5 MeSH:D011218 11 | T6 DiseaseClass 1253 1278 chromosomal abnormalities 12 | N6 Reference T6 MeSH:D002869 13 | -------------------------------------------------------------------------------- /standoff/devel/8808606.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 81 99 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 Modifier 128 146 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 Modifier 148 150 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 266 268 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 441 443 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 755 757 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 1244 1262 myotonic dystrophy 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/test/9563950.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 61 79 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 81 99 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 101 103 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 170 172 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 192 194 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 672 674 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 858 860 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/train/1323345.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 30 81 glucose-6-phosphate dehydrogenase (G6PD) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 170 185 G6PD deficiency 4 | N2 Reference T2 MeSH:D005955 5 | T3 SpecificDisease 284 335 glucose-6-phosphate dehydrogenase (G6PD) deficiency 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 640 655 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 1125 1140 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | -------------------------------------------------------------------------------- /standoff/train/3876122.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 17 46 type I von Willebrand disease 2 | N1 Reference T1 MeSH:D056725 3 | T2 Modifier 89 103 von Willebrand 4 | N2 Reference T2 MeSH:D014842 5 | T3 SpecificDisease 112 141 Type I von Willebrand disease 6 | N3 Reference T3 MeSH:D056725 7 | T4 SpecificDisease 143 146 vWD 8 | N4 Reference T4 MeSH:D014842 9 | T5 Modifier 205 219 von Willebrand 10 | N5 Reference T5 MeSH:D014842 11 | T6 SpecificDisease 1371 1381 type I vWD 12 | N6 Reference T6 MeSH:D056725 13 | -------------------------------------------------------------------------------- /standoff/train/10200300.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 63 111 autoimmune lymphoproliferative syndrome, type Ia 2 | N1 Reference T1 MeSH:D056735 3 | T2 SpecificDisease 200 239 autoimmune lymphoproliferative syndrome 4 | N2 Reference T2 MeSH:D056735 5 | T3 SpecificDisease 241 245 ALPS 6 | N3 Reference T3 MeSH:D056735 7 | T4 Modifier 424 428 ALPS 8 | N4 Reference T4 MeSH:D056735 9 | T5 Modifier 584 588 ALPS 10 | N5 Reference T5 MeSH:D056735 11 | T6 SpecificDisease 774 778 ALPS 12 | N6 Reference T6 MeSH:D056735 13 | -------------------------------------------------------------------------------- /standoff/train/6387532.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 26 46 adrenoleukodystrophy 2 | N1 Reference T1 MeSH:D000326 3 | T2 SpecificDisease 193 213 adrenoleukodystrophy 4 | N2 Reference T2 MeSH:D000326 5 | T3 SpecificDisease 215 218 ALD 6 | N3 Reference T3 MeSH:D000326 7 | T4 DiseaseClass 296 320 neurologic deterioration 8 | N4 Reference T4 MeSH:D019636 9 | T5 SpecificDisease 355 375 adenovirus infection 10 | N5 Reference T5 MeSH:D000257 11 | T6 SpecificDisease 396 399 ALD 12 | N6 Reference T6 MeSH:D000326 13 | -------------------------------------------------------------------------------- /standoff/train/8434621.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 28 Familial Mediterranean fever 2 | N1 Reference T1 MeSH:D010505 3 | T2 SpecificDisease 174 202 familial Mediterranean fever 4 | N2 Reference T2 MeSH:D010505 5 | T3 SpecificDisease 204 207 FMF 6 | N3 Reference T3 MeSH:D010505 7 | T4 SpecificDisease 269 272 FMF 8 | N4 Reference T4 MeSH:D010505 9 | T5 SpecificDisease 323 349 amyloidotic kidney disease 10 | N5 Reference T5 MeSH:D007674 11 | T6 SpecificDisease 353 356 FMF 12 | N6 Reference T6 MeSH:D010505 13 | -------------------------------------------------------------------------------- /standoff/test/9425239.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 77 95 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 127 145 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 147 149 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 215 217 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 293 295 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 963 965 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 1053 1071 myotonic dystrophy 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/train/1146783.txt: -------------------------------------------------------------------------------- 1 | Histidinemia. Classical and atypical form in siblings. 2 | Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.. 3 | -------------------------------------------------------------------------------- /standoff/train/2792129.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 58 Familial deficiency of the seventh component of complement 2 | N1 Reference T1 OMIM:610102 3 | T2 SpecificDisease 85 109 meningococcal infections 4 | N2 Reference T2 MeSH:D008589 5 | T3 SpecificDisease 158 178 recurrent meningitis 6 | N3 Reference T3 MeSH:D008581+D012008 7 | T4 SpecificDisease 195 240 absence of the seventh component of complemen 8 | N4 Reference T4 OMIM:610102 9 | T5 SpecificDisease 628 641 C7 deficiency 10 | N5 Reference T5 OMIM:610102 11 | -------------------------------------------------------------------------------- /standoff/train/8401501.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 23 53 breast-ovarian cancer syndrome 2 | N1 Reference T1 MeSH:D061325 3 | T2 DiseaseClass 171 203 hereditary breast-ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 Modifier 471 503 breast and breast-ovarian cancer 6 | N3 Reference T3 MeSH:D001943 7 | N4 Reference T3 MeSH:D061325 8 | T4 Modifier 641 654 breast cancer 9 | N5 Reference T4 MeSH:D001943 10 | T5 DiseaseClass 1155 1196 hereditary breast-ovarian cancer syndrome 11 | N6 Reference T5 MeSH:D061325 12 | -------------------------------------------------------------------------------- /standoff/train/10932179.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 117 135 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 137 139 HD 4 | N2 Reference T2 MeSH:D006816 5 | T3 Modifier 383 385 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 Modifier 485 487 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 DiseaseClass 616 637 neuritic degeneration 10 | N5 Reference T5 MeSH:D009410 11 | T6 Modifier 863 865 HD 12 | N6 Reference T6 MeSH:D006816 13 | T7 SpecificDisease 1004 1006 HD 14 | N7 Reference T7 MeSH:D006816 15 | -------------------------------------------------------------------------------- /standoff/train/2817003.txt: -------------------------------------------------------------------------------- 1 | Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. 2 | A father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t (5; 11) (q13. 1; p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13. 3 | -------------------------------------------------------------------------------- /standoff/train/6783144.txt: -------------------------------------------------------------------------------- 1 | Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality. 2 | A case of human complete C6 deficiency is reported. The patient, a 31 year old white male, was seen on the occasion of an isolated episode of meningococcal meningitis. Serum complement hemolytic and bactericidal activities were lacking and could be restored to normal by addition of appropriate amounts of purified C6. No hemostatic abnormalities were observed.. 3 | -------------------------------------------------------------------------------- /standoff/train/7481765.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 46 59 breast cancer 2 | N1 Reference T1 MeSH:D001943 3 | T2 Modifier 217 222 tumor 4 | N2 Reference T2 MeSH:D009369 5 | T3 Modifier 296 321 breast and ovarian cancer 6 | N3 Reference T3 MeSH:D001943 7 | N4 Reference T3 MeSH:D010051 8 | T4 Modifier 561 574 breast cancer 9 | N5 Reference T4 MeSH:D001943 10 | T5 DiseaseClass 613 632 BRCA1 abnormalities 11 | N6 Reference T5 OMIM:604370 12 | T6 SpecificDisease 677 691 breast cancers 13 | N7 Reference T6 MeSH:D001943 14 | -------------------------------------------------------------------------------- /standoff/devel/9223307.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 56 77 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 DiseaseClass 126 142 genetic disorder 4 | N2 Reference T2 MeSH:D030342 5 | T3 SpecificDisease 143 164 ataxia-telangiectasia 6 | N3 Reference T3 MeSH:D001260 7 | T4 SpecificDisease 166 169 A-T 8 | N4 Reference T4 MeSH:D001260 9 | T5 Modifier 587 590 A-T 10 | N5 Reference T5 MeSH:D001260 11 | T6 Modifier 659 662 A-T 12 | N6 Reference T6 MeSH:D001260 13 | T7 Modifier 973 976 A-T 14 | N7 Reference T7 MeSH:D001260 15 | -------------------------------------------------------------------------------- /standoff/test/9482572.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 69 77 aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 SpecificDisease 120 134 Peters anomaly 4 | N2 Reference T2 MeSH:C537884 5 | T3 SpecificDisease 141 161 congenital cataracts 6 | N3 Reference T3 MeSH:D002386 7 | T4 SpecificDisease 168 196 autosomal dominant keratitis 8 | N4 Reference T4 MeSH:C537022 9 | T5 SpecificDisease 207 233 isolated foveal hypoplasia 10 | N5 Reference T5 OMIM:136520 11 | T6 SpecificDisease 295 303 aniridia 12 | N6 Reference T6 MeSH:D015783 13 | -------------------------------------------------------------------------------- /standoff/test/9668171.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 65 83 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 324 342 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 344 346 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 648 650 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 DiseaseClass 667 683 genetic diseases 10 | N5 Reference T5 MeSH:D030342 11 | T6 Modifier 879 881 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 1165 1167 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/test/9792860.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 89 124 autosomal recessive Alport syndrome 2 | N1 Reference T1 MeSH:C536587 3 | T2 SpecificDisease 126 161 Autosomal recessive Alport syndrome 4 | N2 Reference T2 MeSH:C536587 5 | T3 SpecificDisease 179 207 hematuric glomerulonephritis 6 | N3 Reference T3 MeSH:D005921 7 | T4 DiseaseClass 225 267 glomerular basement membrane abnormalities 8 | N4 Reference T4 MeSH:D005921 9 | T5 SpecificDisease 716 751 autosomal recessive Alport syndrome 10 | N5 Reference T5 MeSH:C536587 11 | -------------------------------------------------------------------------------- /standoff/test/9843038.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 65 90 hereditary coproporphyria 2 | N1 Reference T1 MeSH:D046349 3 | T2 SpecificDisease 99 124 Hereditary coproporphyria 4 | N2 Reference T2 MeSH:D046349 5 | T3 SpecificDisease 126 129 HCP 6 | N3 Reference T3 MeSH:D046349 7 | T4 DiseaseClass 137 163 autosomal dominant disease 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 183 223 deficiency of coproporphyrinogen oxidase 10 | N5 Reference T5 MeSH:D046349 11 | T6 Modifier 320 323 HCP 12 | N6 Reference T6 MeSH:D046349 13 | -------------------------------------------------------------------------------- /standoff/train/10915776.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 19 41 X-linked retinoschisis 2 | N1 Reference T1 MeSH:D041441 3 | T2 SpecificDisease 137 159 X-linked retinoschisis 4 | N2 Reference T2 MeSH:D041441 5 | T3 DiseaseClass 283 303 visual deterioration 6 | N3 Reference T3 MeSH:C531604 7 | T4 Modifier 1376 1390 retinoblastoma 8 | N4 Reference T4 MeSH:D012175 9 | T5 SpecificDisease 1604 1626 X-linked retinoschisis 10 | N5 Reference T5 MeSH:D041441 11 | T6 DiseaseClass 1779 1796 retinal dystrophy 12 | N6 Reference T6 MeSH:D058499 13 | -------------------------------------------------------------------------------- /standoff/train/3862128.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 63 78 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 106 121 Phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 123 126 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 DiseaseClass 134 162 autosomal recessive disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 200 258 deficiency of the hepatic enzyme phenylalanine hydroxylase 10 | N5 Reference T5 OMIM:261600 11 | T6 Modifier 1225 1228 PKU 12 | N6 Reference T6 MeSH:D010661 13 | -------------------------------------------------------------------------------- /standoff/train/8002973.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 20 Adrenoleukodystrophy 2 | N1 Reference T1 MeSH:D000326 3 | T2 SpecificDisease 166 195 X-linked adrenoleukodystrophy 4 | N2 Reference T2 MeSH:D000326 5 | T3 SpecificDisease 197 200 ALD 6 | N3 Reference T3 MeSH:D000326 7 | T4 Modifier 250 253 ALD 8 | N4 Reference T4 MeSH:D000326 9 | T5 SpecificDisease 402 405 ALD 10 | N5 Reference T5 MeSH:D000326 11 | T6 Modifier 436 439 ALD 12 | N6 Reference T6 MeSH:D000326 13 | T7 Modifier 834 837 ALD 14 | N7 Reference T7 MeSH:D000326 15 | -------------------------------------------------------------------------------- /standoff/train/8071955.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 33 51 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 271 289 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 291 293 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 379 381 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 552 554 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 1164 1166 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 SpecificDisease 1378 1380 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/train/10077651.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 58 84 hereditary hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 147 173 Hereditary hemochromatosis 4 | N2 Reference T2 MeSH:D006432 5 | T3 SpecificDisease 175 177 HH 6 | N3 Reference T3 MeSH:D006432 7 | T4 DiseaseClass 191 219 autosomal recessive disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 364 366 HH 10 | N5 Reference T5 MeSH:D006432 11 | T6 SpecificDisease 1281 1304 dietary iron deficiency 12 | N6 Reference T6 MeSH:D018798 13 | -------------------------------------------------------------------------------- /standoff/train/10330430.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 47 83 familial hypertrophic cardiomyopathy 2 | N1 Reference T1 MeSH:D024741 3 | T2 SpecificDisease 188 224 familial hypertrophic cardiomyopathy 4 | N2 Reference T2 MeSH:D024741 5 | T3 SpecificDisease 226 229 FHC 6 | N3 Reference T3 MeSH:D024741 7 | T4 Modifier 286 289 FHC 8 | N4 Reference T4 MeSH:D024741 9 | T5 SpecificDisease 725 758 idiopathic dilated cardiomyopathy 10 | N5 Reference T5 MeSH:C536277 11 | T6 SpecificDisease 760 763 IDC 12 | N6 Reference T6 MeSH:C536277 13 | -------------------------------------------------------------------------------- /standoff/train/1424237.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 20 36 cat eye syndrome 2 | N1 Reference T1 MeSH:C535918 3 | N2 Reference T1 OMIM:115470 4 | T2 SpecificDisease 128 144 cat eye syndrome 5 | N3 Reference T2 MeSH:C535918 6 | N4 Reference T2 OMIM:115470 7 | T3 SpecificDisease 146 149 CES 8 | N5 Reference T3 MeSH:C535918 9 | N6 Reference T3 OMIM:115470 10 | T4 SpecificDisease 188 191 CES 11 | N7 Reference T4 MeSH:C535918 12 | N8 Reference T4 OMIM:115470 13 | T5 DiseaseClass 388 397 tetrasomy 14 | N9 Reference T5 MeSH:D058670 15 | -------------------------------------------------------------------------------- /standoff/train/7599636.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 41 73 X-linked amelogenesis imperfecta 2 | N1 Reference T1 MeSH:C538243 3 | T2 DiseaseClass 245 268 amelogenesis imperfecta 4 | N2 Reference T2 MeSH:D000567 5 | T3 DiseaseClass 305 324 inherited disorders 6 | N3 Reference T3 MeSH:D030342 7 | T4 SpecificDisease 524 556 X-linked amelogenesis imperfecta 8 | N4 Reference T4 MeSH:C538243 9 | T5 SpecificDisease 558 562 AIH1 10 | N5 Reference T5 MeSH:C538243 11 | T6 SpecificDisease 610 614 AIH1 12 | N6 Reference T6 MeSH:C538243 13 | -------------------------------------------------------------------------------- /standoff/train/8098180.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 104 122 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 124 126 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 DiseaseClass 145 167 neuromuscular disorder 8 | N4 Reference T4 MeSH:D009468 9 | T5 Modifier 274 276 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 683 685 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 925 927 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/train/8162051.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 21 24 APC 2 | N1 Reference T1 MeSH:D011125 3 | T2 SpecificDisease 129 155 adenomatous polyposis coli 4 | N2 Reference T2 MeSH:D011125 5 | T3 SpecificDisease 238 264 adenomatous polyposis coli 6 | N3 Reference T3 MeSH:D011125 7 | T4 SpecificDisease 266 269 APC 8 | N4 Reference T4 MeSH:D011125 9 | T5 Modifier 762 768 cancer 10 | N5 Reference T5 MeSH:D009369 11 | T6 Modifier 897 900 APC 12 | N6 Reference T6 MeSH:D011125 13 | T7 Modifier 1212 1215 APC 14 | N7 Reference T7 MeSH:D011125 15 | -------------------------------------------------------------------------------- /standoff/train/8281152.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 0 18 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 99 117 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 119 121 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 405 423 myotonic dystrophy 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 701 703 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 SpecificDisease 1180 1182 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 SpecificDisease 1457 1459 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/test/9580132.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 140 184 familial neurohypophyseal diabetes insipidus 2 | N1 Reference T1 OMIM:125700 3 | T2 SpecificDisease 186 230 Familial neurohypophyseal diabetes insipidus 4 | N2 Reference T2 OMIM:125700 5 | T3 SpecificDisease 232 236 FNDI 6 | N3 Reference T3 OMIM:125700 7 | T4 DiseaseClass 244 270 autosomal dominant disease 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 463 467 FNDI 10 | N5 Reference T5 OMIM:125700 11 | T6 Modifier 1173 1177 FNDI 12 | N6 Reference T6 OMIM:125700 13 | -------------------------------------------------------------------------------- /standoff/train/10083734.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 26 39 C9 deficiency 2 | N1 Reference T1 OMIM:613825 3 | T2 SpecificDisease 106 159 Deficiency of the ninth component of human complement 4 | N2 Reference T2 OMIM:613825 5 | T3 DiseaseClass 184 205 complement deficiency 6 | N3 Reference T3 MeSH:D007153 7 | T4 SpecificDisease 341 354 C9 deficiency 8 | N4 Reference T4 OMIM:613825 9 | T5 SpecificDisease 486 499 C9 deficiency 10 | N5 Reference T5 OMIM:613825 11 | T6 SpecificDisease 1184 1197 C9 deficiency 12 | N6 Reference T6 OMIM:613825 13 | -------------------------------------------------------------------------------- /standoff/train/10377440.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 160 228 deficiency of glycosyl phosphatidylinositol (GPI) -anchored proteins 2 | N1 Reference T1 MeSH:C537277 3 | T2 SpecificDisease 263 298 paroxysmal nocturnal hemoglobinuria 4 | N2 Reference T2 MeSH:D006457 5 | T3 SpecificDisease 321 342 GPI-anchor deficiency 6 | N3 Reference T3 MeSH:C537277 7 | T4 SpecificDisease 427 446 embryonic lethality 8 | N4 Reference T4 MeSH:D020964 9 | T5 SpecificDisease 1394 1429 paroxysmal nocturnal hemoglobinuria 10 | N5 Reference T5 MeSH:D006457 11 | -------------------------------------------------------------------------------- /standoff/train/10767313.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 37 55 fragile X syndrome 2 | N1 Reference T1 MeSH:D005600 3 | T2 SpecificDisease 57 75 Fragile X syndrome 4 | N2 Reference T2 MeSH:D005600 5 | T3 DiseaseClass 94 122 inherited mental retardation 6 | N3 Reference T3 MeSH:D038901 7 | T4 Modifier 229 257 fragile X mental retardation 8 | N4 Reference T4 OMIM:300624 9 | T5 SpecificDisease 290 308 fragile X syndrome 10 | N5 Reference T5 MeSH:D005600 11 | T6 DiseaseClass 478 496 mental retardation 12 | N6 Reference T6 MeSH:D008607 13 | -------------------------------------------------------------------------------- /standoff/train/1315306.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 126 144 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 Modifier 166 186 retinal degeneration 4 | N2 Reference T2 MeSH:D012162 5 | T3 DiseaseClass 257 281 hereditary retinopathies 6 | N3 Reference T3 MeSH:D015785 7 | T4 Modifier 696 714 Huntington disease 8 | N4 Reference T4 MeSH:D006816 9 | T5 Modifier 716 718 HD 10 | N5 Reference T5 MeSH:D006816 11 | T6 Modifier 818 820 HD 12 | N6 Reference T6 MeSH:D006816 13 | T7 Modifier 1043 1045 HD 14 | N7 Reference T7 MeSH:D006816 15 | -------------------------------------------------------------------------------- /standoff/train/8477262.txt: -------------------------------------------------------------------------------- 1 | Identification of mutations in Danish choroideremia families. 2 | We have searched for mutations in the choroideremia gene (CHM) in patients from 12 Danish families in which CHM is segregating. Employing polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and direct DNA sequencing, different mutations have been identified in 6 patients. All the mutations will interfere with the correct translation of the mRNA predicting a truncated protein or no gene product at all.. 3 | -------------------------------------------------------------------------------- /standoff/test/9856499.txt: -------------------------------------------------------------------------------- 1 | Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 2 | Seven further molecular bases of C7 deficiency are described. All these new molecular defects involve single-nucleotide events, deletions and substitutions, some of which alter splice sites, and others codons. They are distributed along the C7 gene, but predominantly towards the 3 end. All were found in compound heterozygous individuals. The C6/C7 marker haplotypes associated with most C7 defects are tabulated.. 3 | -------------------------------------------------------------------------------- /standoff/train/10382909.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 31 73 X-linked Emery-Dreifuss muscular dystrophy 2 | N1 Reference T1 MeSH:D020389 3 | T2 SpecificDisease 209 242 Emery-Dreifuss muscular dystrophy 4 | N2 Reference T2 MeSH:D020389 5 | T3 SpecificDisease 244 247 EMD 6 | N3 Reference T3 MeSH:D020389 7 | T4 SpecificDisease 365 377 X-linked EMD 8 | N4 Reference T4 MeSH:D020389 9 | T5 DiseaseClass 960 978 ankle contractures 10 | N5 Reference T5 MeSH:D003286 11 | T6 DiseaseClass 983 998 muscle weakness 12 | N6 Reference T6 MeSH:D018908 13 | -------------------------------------------------------------------------------- /standoff/train/7795653.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 77 99 sporadic breast cancer 2 | N1 Reference T1 MeSH:D001943 3 | T2 Modifier 153 187 familial breast and ovarian cancer 4 | N2 Reference T2 MeSH:D061325 5 | T3 SpecificDisease 213 252 non-hereditary (sporadic) breast cancer 6 | N3 Reference T3 MeSH:D001943 7 | T4 DiseaseClass 433 450 carcinoma in situ 8 | N4 Reference T4 MeSH:D002278 9 | T5 DiseaseClass 454 469 invasive cancer 10 | N5 Reference T5 MeSH:D009362 11 | T6 SpecificDisease 808 821 breast cancer 12 | N6 Reference T6 MeSH:D001943 13 | -------------------------------------------------------------------------------- /standoff/train/8258524.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 162 189 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 191 194 DMD 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 273 276 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 SpecificDisease 374 377 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 SpecificDisease 449 452 DMD 10 | N5 Reference T5 MeSH:D020388 11 | T6 SpecificDisease 1128 1131 DMD 12 | N6 Reference T6 MeSH:D020388 13 | T7 SpecificDisease 1512 1515 DMD 14 | N7 Reference T7 MeSH:D020388 15 | -------------------------------------------------------------------------------- /standoff/devel/9144525.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 337 381 Deficiency of terminal complement components 2 | N1 Reference T1 MeSH:D007153 3 | T2 SpecificDisease 421 441 neisseria infections 4 | N2 Reference T2 MeSH:D016870 5 | T3 SpecificDisease 495 518 inherited C9 deficiency 6 | N3 Reference T3 OMIM:613825 7 | T4 SpecificDisease 553 566 C9 deficiency 8 | N4 Reference T4 OMIM:613825 9 | T5 SpecificDisease 658 671 C9 deficiency 10 | N5 Reference T5 OMIM:613825 11 | T6 SpecificDisease 989 1002 C9 deficiency 12 | N6 Reference T6 OMIM:613825 13 | -------------------------------------------------------------------------------- /standoff/test/9888390.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 92 120 metachromatic leukodystrophy 2 | N1 Reference T1 MeSH:D007966 3 | T2 SpecificDisease 239 267 metachromatic leukodystrophy 4 | N2 Reference T2 MeSH:D007966 5 | T3 SpecificDisease 269 272 MLD 6 | N3 Reference T3 MeSH:D007966 7 | T4 Modifier 572 575 MLD 8 | N4 Reference T4 MeSH:D007966 9 | T5 Modifier 1289 1292 MLD 10 | N5 Reference T5 MeSH:D007966 11 | T6 SpecificDisease 1440 1443 MLD 12 | N6 Reference T6 MeSH:D007966 13 | T7 Modifier 1557 1560 MLD 14 | N7 Reference T7 MeSH:D007966 15 | -------------------------------------------------------------------------------- /standoff/train/10976074.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 73 91 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 93 95 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 122 140 muscular dystrophy 8 | N4 Reference T4 MeSH:D009136 9 | T5 DiseaseClass 482 490 myotonia 10 | N5 Reference T5 MeSH:D009222 11 | T6 DiseaseClass 495 503 myopathy 12 | N6 Reference T6 MeSH:D009135 13 | T7 Modifier 632 634 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/train/1671881.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 49 64 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 66 91 Classical phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 DiseaseClass 98 125 autosomal recessive disease 6 | N3 Reference T3 MeSH:D030342 7 | T4 SpecificDisease 138 185 deficiency of hepatic phenylalanine hydroxylase 8 | N4 Reference T4 OMIM:261600 9 | T5 SpecificDisease 606 609 PKU 10 | N5 Reference T5 MeSH:D010661 11 | T6 SpecificDisease 684 700 PAH deficiencies 12 | N6 Reference T6 OMIM:261600 13 | -------------------------------------------------------------------------------- /standoff/train/3565372.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 70 113 hereditary non-spherocytic hemolytic anemia 2 | N1 Reference T1 MeSH:D000746 3 | T2 SpecificDisease 221 263 hereditary nonspherocytic hemolytic anemia 4 | N2 Reference T2 MeSH:D000746 5 | T3 SpecificDisease 265 270 HNSHA 6 | N3 Reference T3 MeSH:D000746 7 | T4 SpecificDisease 570 585 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 696 701 HNSHA 10 | N5 Reference T5 MeSH:D000746 11 | T6 SpecificDisease 756 771 G6PD deficiency 12 | N6 Reference T6 MeSH:D005955 13 | -------------------------------------------------------------------------------- /standoff/train/3615198.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 84 99 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 101 126 Classical Phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 128 131 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 DiseaseClass 139 181 autosomal recessive human genetic disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 194 241 deficiency of hepatic phenylalanine hydroxylase 10 | N5 Reference T5 OMIM:261600 11 | T6 Modifier 299 302 PKU 12 | N6 Reference T6 MeSH:D010661 13 | -------------------------------------------------------------------------------- /standoff/devel/8678979.txt: -------------------------------------------------------------------------------- 1 | Mapping the homolog of the human Rb1 gene to chromosome 14 of higher primates. 2 | The Rb1 gene has been implicated with retinoblastoma and is located on human Chromosome (Chr) 13q14. 2 2. A unique sequence human Rb1 cosmid DNA probe has been used to localize this region on apes Chr 14 by the FISH technique. The conservation of the Rb1 gene in higher primates at the corresponding equivalent chromosome locus (14q14) of the human may serve as a phylogenetic marker to further trace the evolutionary pathway of human descent. 3 | -------------------------------------------------------------------------------- /standoff/train/10417279.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 61 89 Pelizaeus-Merzbacher Disease 2 | N1 Reference T1 OMIM:312080 3 | T2 DiseaseClass 244 272 Brain Dysmyelinating Disease 4 | N2 Reference T2 MeSH:D020279 5 | T3 SpecificDisease 274 302 Pelizaeus-Merzbacher Disease 6 | N3 Reference T3 OMIM:312080 7 | T4 SpecificDisease 304 307 PMD 8 | N4 Reference T4 MeSH:D020371 9 | T5 DiseaseClass 315 359 X-linked developmental defect of myelination 10 | N5 Reference T5 MeSH:D020279 11 | T6 SpecificDisease 506 509 PMD 12 | N6 Reference T6 MeSH:D020371 13 | -------------------------------------------------------------------------------- /standoff/train/10721669.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 60 74 Wilson disease 2 | N1 Reference T1 MeSH:D006527 3 | T2 SpecificDisease 76 90 Wilson disease 4 | N2 Reference T2 MeSH:D006527 5 | T3 SpecificDisease 92 94 WD 6 | N3 Reference T3 MeSH:D006527 7 | T4 DiseaseClass 102 130 autosomal recessive disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 365 367 WD 10 | N5 Reference T5 MeSH:D006527 11 | T6 SpecificDisease 1275 1277 WD 12 | N6 Reference T6 MeSH:D006527 13 | T7 SpecificDisease 1338 1340 WD 14 | N7 Reference T7 MeSH:D006527 15 | -------------------------------------------------------------------------------- /standoff/train/10747931.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 138 145 lipomas 2 | N1 Reference T1 MeSH:D008067 3 | T2 DiseaseClass 183 190 lipomas 4 | N2 Reference T2 MeSH:D008067 5 | T3 DiseaseClass 421 428 lipomas 6 | N3 Reference T3 MeSH:D008067 7 | T4 SpecificDisease 721 748 adipose tissue inflammation 8 | N4 Reference T4 MeSH:D007249 9 | T5 DiseaseClass 791 798 lipomas 10 | N5 Reference T5 MeSH:D008067 11 | T6 DiseaseClass 972 979 lipomas 12 | N6 Reference T6 MeSH:D008067 13 | T7 DiseaseClass 1165 1178 benign tumors 14 | N7 Reference T7 MeSH:D009369 15 | -------------------------------------------------------------------------------- /standoff/train/1301938.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 32 49 Tay-Sachs disease 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 78 95 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 97 100 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 DiseaseClass 108 144 autosomal recessive genetic disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 Modifier 303 312 Tay-Sachs 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 782 785 TSD 12 | N6 Reference T6 MeSH:D013661 13 | T7 Modifier 1548 1551 TSD 14 | N7 Reference T7 MeSH:D013661 15 | -------------------------------------------------------------------------------- /standoff/train/1409710.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 29 von Willebrand disease type B 2 | N1 Reference T1 MeSH:D014842 3 | T2 Modifier 92 106 von Willebrand 4 | N2 Reference T2 MeSH:D014842 5 | T3 Modifier 151 165 von Willebrand 6 | N3 Reference T3 MeSH:D014842 7 | T4 SpecificDisease 565 594 von Willebrand disease type B 8 | N4 Reference T4 MeSH:D014842 9 | T5 SpecificDisease 902 931 von Willebrand disease type B 10 | N5 Reference T5 MeSH:D014842 11 | T6 SpecificDisease 1271 1300 von Willebrand disease type B 12 | N6 Reference T6 MeSH:D014842 13 | -------------------------------------------------------------------------------- /standoff/train/2253937.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 20 23 DMD 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 24 27 BMD 4 | N2 Reference T2 MeSH:C537666 5 | T3 CompositeMention 392 429 Duchenne or Becker muscular dystrophy 6 | N3 Reference T3 MeSH:D020388 7 | N4 Reference T3 MeSH:C537666 8 | T4 SpecificDisease 431 434 DMD 9 | N5 Reference T4 MeSH:D020388 10 | T5 SpecificDisease 436 439 BMD 11 | N6 Reference T5 MeSH:C537666 12 | T6 Modifier 776 779 DMD 13 | N7 Reference T6 MeSH:D020388 14 | T7 Modifier 780 783 BMD 15 | N8 Reference T7 MeSH:C537666 16 | -------------------------------------------------------------------------------- /standoff/train/2651669.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 28 51 Langer-Giedion syndrome 2 | N1 Reference T1 MeSH:D015826 3 | T2 SpecificDisease 270 293 Langer-Giedion syndrome 4 | N2 Reference T2 MeSH:D015826 5 | T3 SpecificDisease 295 298 LGS 6 | N3 Reference T3 MeSH:D015826 7 | T4 SpecificDisease 420 423 LGS 8 | N4 Reference T4 MeSH:D015826 9 | T5 SpecificDisease 479 482 LGS 10 | N5 Reference T5 MeSH:D015826 11 | T6 SpecificDisease 575 578 LGS 12 | N6 Reference T6 MeSH:D015826 13 | T7 SpecificDisease 701 704 LGS 14 | N7 Reference T7 MeSH:D015826 15 | -------------------------------------------------------------------------------- /standoff/train/3674116.txt: -------------------------------------------------------------------------------- 1 | Familial Prader-Willi syndrome with apparently normal chromosomes. 2 | We report on 4 sibs (2F, 2M) with Prader-Willi syndrome (PWS). Diagnosis was made clinically on the basis of history, behavior, and physical findings in 3 of the sibs. The other child had died at age 10 months with a history and clinical findings typical of first phase of PWS. Results of chromosome studies on the parents and surviving sibs were normal. The implications of this unusual familial occurrence for our understanding of PWS are discussed.. 3 | -------------------------------------------------------------------------------- /standoff/train/8004674.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 26 41 McLeod syndrome 2 | N1 Reference T1 OMIM:300842 3 | T2 SpecificDisease 91 106 McLeod syndrome 4 | N2 Reference T2 OMIM:300842 5 | T3 DiseaseClass 113 142 X-linked multisystem disorder 6 | N3 Reference T3 MeSH:D040181 7 | T4 Modifier 287 293 McLeod 8 | N4 Reference T4 OMIM:300842 9 | T5 Modifier 554 560 McLeod 10 | N5 Reference T5 OMIM:300842 11 | T6 Modifier 744 750 McLeod 12 | N6 Reference T6 OMIM:300842 13 | T7 SpecificDisease 903 918 McLeod syndrome 14 | N7 Reference T7 OMIM:300842 15 | -------------------------------------------------------------------------------- /standoff/train/1303277.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 80 101 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 119 140 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 142 145 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 234 267 maternal disomy for chromosome 15 8 | N4 Reference T4 MeSH:C538037 9 | T5 Modifier 377 380 PWS 10 | N5 Reference T5 MeSH:D011218 11 | T6 SpecificDisease 659 662 PWS 12 | N6 Reference T6 MeSH:D011218 13 | T7 Modifier 813 816 PWS 14 | N7 Reference T7 MeSH:D011218 15 | -------------------------------------------------------------------------------- /standoff/train/6101415.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 93 117 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 SpecificDisease 154 178 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | T3 SpecificDisease 180 183 WAS 6 | N3 Reference T3 MeSH:D014923 7 | T4 Modifier 396 399 WAS 8 | N4 Reference T4 MeSH:D014923 9 | T5 Modifier 836 839 WAS 10 | N5 Reference T5 MeSH:D014923 11 | T6 SpecificDisease 935 938 WAS 12 | N6 Reference T6 MeSH:D014923 13 | T7 SpecificDisease 1009 1033 Wiskott-Aldrich syndrome 14 | N7 Reference T7 MeSH:D014923 15 | -------------------------------------------------------------------------------- /standoff/train/8471773.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 30 81 glucose-6-phosphate dehydrogenase (G6PD) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 Modifier 225 276 glucose-6-phosphate dehydrogenase (G6PD) -deficient 4 | N2 Reference T2 MeSH:D005955 5 | T3 Modifier 375 389 G6PD-deficient 6 | N3 Reference T3 MeSH:D005955 7 | T4 Modifier 968 982 G6PD-deficient 8 | N4 Reference T4 MeSH:D005955 9 | T5 Modifier 1265 1279 G6PD-deficient 10 | N5 Reference T5 MeSH:D005955 11 | T6 SpecificDisease 1421 1436 G6PD deficiency 12 | N6 Reference T6 MeSH:D005955 13 | -------------------------------------------------------------------------------- /standoff/devel/8649785.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 93 113 Li-Fraumeni syndrome 2 | N1 Reference T1 MeSH:D016864 3 | T2 SpecificDisease 158 178 Li-Fraumeni syndrome 4 | N2 Reference T2 MeSH:D016864 5 | T3 Modifier 228 234 tumour 6 | N3 Reference T3 MeSH:D009369 7 | T4 DiseaseClass 535 551 sporadic tumours 8 | N4 Reference T4 MeSH:D009369 9 | T5 DiseaseClass 713 720 tumours 10 | N5 Reference T5 MeSH:D009369 11 | T6 SpecificDisease 769 783 leiomyosarcoma 12 | N6 Reference T6 MeSH:D007890 13 | T7 DiseaseClass 844 850 tumour 14 | N7 Reference T7 MeSH:D009369 15 | -------------------------------------------------------------------------------- /standoff/train/10737980.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 20 49 X-linked adrenoleukodystrophy 2 | N1 Reference T1 MeSH:D000326 3 | T2 SpecificDisease 100 129 X-linked Adrenoleukodystrophy 4 | N2 Reference T2 MeSH:D000326 5 | T3 SpecificDisease 131 136 X-ALD 6 | N3 Reference T3 MeSH:D000326 7 | T4 DiseaseClass 159 178 peroxisomal disease 8 | N4 Reference T4 MeSH:D018901 9 | T5 Modifier 978 983 X-ALD 10 | N5 Reference T5 MeSH:D000326 11 | T6 Modifier 1107 1112 X-ALD 12 | N6 Reference T6 MeSH:D000326 13 | T7 Modifier 1268 1273 X-ALD 14 | N7 Reference T7 MeSH:D000326 15 | -------------------------------------------------------------------------------- /standoff/train/10767343.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 98 100 DM 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 155 173 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 175 177 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 234 236 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 474 476 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 675 677 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 SpecificDisease 1171 1173 DM 14 | N7 Reference T7 MeSH:D009223 15 | T8 Modifier 1259 1261 DM 16 | N8 Reference T8 MeSH:D009223 17 | -------------------------------------------------------------------------------- /standoff/train/1303170.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 15 33 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 99 117 Huntington disease 4 | N2 Reference T2 MeSH:D006816 5 | T3 Modifier 280 282 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 Modifier 363 365 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 Modifier 691 693 HD 10 | N5 Reference T5 MeSH:D006816 11 | T6 Modifier 1027 1029 HD 12 | N6 Reference T6 MeSH:D006816 13 | T7 Modifier 1140 1142 HD 14 | N7 Reference T7 MeSH:D006816 15 | T8 Modifier 1360 1362 HD 16 | N8 Reference T8 MeSH:D006816 17 | -------------------------------------------------------------------------------- /standoff/train/6618488.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 21 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 78 99 chromosome 15 anomaly 4 | N2 Reference T2 MeSH:D002869 5 | T3 SpecificDisease 182 203 Prader-Willi syndrome 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 205 208 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 SpecificDisease 322 325 PWS 10 | N5 Reference T5 MeSH:D011218 11 | T6 SpecificDisease 479 482 PWS 12 | N6 Reference T6 MeSH:D011218 13 | T7 SpecificDisease 513 516 PWS 14 | N7 Reference T7 MeSH:D011218 15 | -------------------------------------------------------------------------------- /standoff/train/7191069.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 13 26 C2-deficiency 2 | N1 Reference T1 OMIM:217000 3 | T2 SpecificDisease 31 48 myasthenia gravis 4 | N2 Reference T2 MeSH:D009157 5 | T3 Modifier 50 71 Complement deficiency 6 | N3 Reference T3 MeSH:D007153 7 | T4 SpecificDisease 82 99 myasthenia gravis 8 | N4 Reference T4 MeSH:D009157 9 | T5 SpecificDisease 101 103 MG 10 | N5 Reference T5 MeSH:D009157 11 | T6 SpecificDisease 185 187 MG 12 | N6 Reference T6 MeSH:D009157 13 | T7 SpecificDisease 205 218 C2 deficiency 14 | N7 Reference T7 OMIM:217000 15 | -------------------------------------------------------------------------------- /standoff/train/7767095.txt: -------------------------------------------------------------------------------- 1 | Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats. 2 | A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations. In this family, congenital as well as early severe childhood and later childhood onset DM coexist. This observation strengthens the limited ability of lymphocytes CTG repeat number analysis in predicting genotype-phenotype correlations in DM patients.. 3 | -------------------------------------------------------------------------------- /standoff/test/9400934.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 38 73 ectopic intracranial retinoblastoma 2 | N1 Reference T1 MeSH:D012175 3 | T2 SpecificDisease 130 165 ectopic intracranial retinoblastoma 4 | N2 Reference T2 MeSH:D012175 5 | T3 CompositeMention 199 225 pineal and retinal tumours 6 | N3 Reference T3 MeSH:D019572 7 | N4 Reference T3 MeSH:D010871 8 | T4 CompositeMention 350 380 retinal and the pineal tumours 9 | N5 Reference T4 MeSH:D019572 10 | N6 Reference T4 MeSH:D010871 11 | T5 SpecificDisease 753 767 retinoblastoma 12 | N7 Reference T5 MeSH:D012175 13 | -------------------------------------------------------------------------------- /standoff/train/10487710.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 22 66 familial neurohypophyseal diabetes insipidus 2 | N1 Reference T1 OMIM:125700 3 | T2 SpecificDisease 112 156 Familial neurohypophyseal diabetes insipidus 4 | N2 Reference T2 OMIM:125700 5 | T3 SpecificDisease 158 162 FNDI 6 | N3 Reference T3 OMIM:125700 7 | T4 DiseaseClass 180 226 deficiency of the hormone arginine vasopressin 8 | N4 Reference T4 OMIM:125700 9 | T5 SpecificDisease 1292 1296 FNDI 10 | N5 Reference T5 OMIM:125700 11 | T6 SpecificDisease 1348 1352 FNDI 12 | N6 Reference T6 OMIM:125700 13 | -------------------------------------------------------------------------------- /standoff/train/2037285.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 20 38 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 Modifier 388 406 myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 Modifier 408 410 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 SpecificDisease 476 478 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 658 660 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 897 899 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 SpecificDisease 982 984 DM 14 | N7 Reference T7 MeSH:D009223 15 | T8 Modifier 1246 1248 DM 16 | N8 Reference T8 MeSH:D009223 17 | -------------------------------------------------------------------------------- /standoff/train/6783144.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 6 53 deficiency of the sixth component of complement 2 | N1 Reference T1 OMIM:612446 3 | T2 SpecificDisease 72 96 meningococcal meningitis 4 | N2 Reference T2 MeSH:D008585 5 | T3 DiseaseClass 104 127 haemostasis abnormality 6 | N3 Reference T3 MeSH:D020141 7 | T4 SpecificDisease 154 167 C6 deficiency 8 | N4 Reference T4 OMIM:612446 9 | T5 SpecificDisease 271 295 meningococcal meningitis 10 | N5 Reference T5 MeSH:D008585 11 | T6 DiseaseClass 451 475 hemostatic abnormalities 12 | N6 Reference T6 MeSH:D020141 13 | -------------------------------------------------------------------------------- /standoff/train/7390473.txt: -------------------------------------------------------------------------------- 1 | Variants of erythrocyte glucose-6-phosphate dehydrogenase (G6PD) in Bulgarian populations. 2 | Ten variants of erythrocyte glucose-6-phosphate dehydrogenase were identified in 22 patients with G6PD deficiency from three districts of Bulgaria. Corinth-like and Fayoum-like variants were the most frequent; Mediterranean, Ohut II, Kilgore, Boston, Poznan, and Panay variants and two new variants, Petrich and Gotze Delchev, were each found in one or two carriers. No correlation was revealed between clinical and biochemical polymorphism.. 3 | -------------------------------------------------------------------------------- /standoff/train/7444053.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 20 40 adrenoleukodystrophy 2 | N1 Reference T1 MeSH:D000326 3 | T2 SpecificDisease 91 111 adrenoleukodystrophy 4 | N2 Reference T2 MeSH:D000326 5 | T3 SpecificDisease 113 116 ALD 6 | N3 Reference T3 MeSH:D000326 7 | T4 SpecificDisease 602 605 ALD 8 | N4 Reference T4 MeSH:D000326 9 | T5 SpecificDisease 607 618 Type II ALD 10 | N5 Reference T5 MeSH:D000326 11 | T6 DiseaseClass 666 685 leukoencephalopathy 12 | N6 Reference T6 MeSH:D056784 13 | T7 SpecificDisease 760 763 ALD 14 | N7 Reference T7 MeSH:D000326 15 | -------------------------------------------------------------------------------- /standoff/train/8128954.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 23 41 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 159 177 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 179 181 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 Modifier 263 265 DM 8 | N4 Reference T4 MeSH:D009223 9 | T5 Modifier 427 429 DM 10 | N5 Reference T5 MeSH:D009223 11 | T6 Modifier 505 507 DM 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 975 977 DM 14 | N7 Reference T7 MeSH:D009223 15 | T8 Modifier 1770 1772 DM 16 | N8 Reference T8 MeSH:D009223 17 | -------------------------------------------------------------------------------- /standoff/train/10709732.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 39 Autoimmune lymphoproliferative syndrome 2 | N1 Reference T1 MeSH:D056735 3 | T2 SpecificDisease 41 45 ALPS 4 | N2 Reference T2 MeSH:D056735 5 | T3 SpecificDisease 120 159 Autoimmune lymphoproliferative syndrome 6 | N3 Reference T3 MeSH:D056735 7 | T4 SpecificDisease 161 165 ALPS 8 | N4 Reference T4 MeSH:D056735 9 | T5 SpecificDisease 349 353 ALPS 10 | N5 Reference T5 MeSH:D056735 11 | T6 Modifier 959 963 ALPS 12 | N6 Reference T6 MeSH:D056735 13 | T7 Modifier 1024 1028 ALPS 14 | N7 Reference T7 MeSH:D056735 15 | -------------------------------------------------------------------------------- /standoff/train/1707231.txt: -------------------------------------------------------------------------------- 1 | A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. 2 | A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.. 3 | -------------------------------------------------------------------------------- /standoff/train/3347839.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 25 52 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 Modifier 177 204 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 Modifier 473 483 dystrophic 6 | N3 Reference T3 MeSH:D020388 7 | T4 SpecificDisease 585 612 Duchenne muscular dystrophy 8 | N4 Reference T4 MeSH:D020388 9 | T5 SpecificDisease 614 617 DMD 10 | N5 Reference T5 MeSH:D020388 11 | T6 DiseaseClass 643 661 mental retardation 12 | N6 Reference T6 MeSH:D008607 13 | T7 Modifier 676 679 DMD 14 | N7 Reference T7 MeSH:D020388 15 | -------------------------------------------------------------------------------- /standoff/train/8317477.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 11 29 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 Modifier 31 33 HD 4 | N2 Reference T2 MeSH:D006816 5 | T3 SpecificDisease 96 98 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 133 151 Huntington disease 8 | N4 Reference T4 MeSH:D006816 9 | T5 SpecificDisease 153 155 HD 10 | N5 Reference T5 MeSH:D006816 11 | T6 Modifier 185 187 HD 12 | N6 Reference T6 MeSH:D006816 13 | T7 SpecificDisease 691 693 HD 14 | N7 Reference T7 MeSH:D006816 15 | T8 Modifier 721 723 HD 16 | N8 Reference T8 MeSH:D006816 17 | -------------------------------------------------------------------------------- /standoff/train/10366443.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 26 55 beta-glucuronidase deficiency 2 | N1 Reference T1 MeSH:D016538 3 | T2 SpecificDisease 76 101 mucopolysaccharidosis VII 4 | N2 Reference T2 MeSH:D016538 5 | T3 SpecificDisease 209 234 mucopolysaccharidosis VII 6 | N3 Reference T3 MeSH:D016538 7 | T4 DiseaseClass 239 285 autosomal recessive lysosomal storage disorder 8 | N4 Reference T4 MeSH:D016464 9 | T5 SpecificDisease 296 325 beta-glucuronidase deficiency 10 | N5 Reference T5 MeSH:D016538 11 | T6 Modifier 1432 1439 MPS VII 12 | N6 Reference T6 MeSH:D016538 13 | -------------------------------------------------------------------------------- /standoff/train/10369870.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 113 127 myelinopathies 2 | N1 Reference T1 MeSH:D011115 3 | T2 DiseaseClass 407 433 hypomyelination of the PNS 4 | N2 Reference T2 MeSH:D010523 5 | T3 DiseaseClass 573 606 inherited peripheral neuropathies 6 | N3 Reference T3 MeSH:C548028 7 | T4 SpecificDisease 607 633 Charcot-Marie-Tooth type 1 8 | N4 Reference T4 MeSH:D002607 9 | T5 SpecificDisease 635 659 Dejerine-Sottas syndrome 10 | N5 Reference T5 MeSH:C538392 11 | T6 SpecificDisease 664 701 congenital hypomyelinating neuropathy 12 | N6 Reference T6 OMIM:605253 13 | -------------------------------------------------------------------------------- /standoff/train/10699184.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 63 81 myotonic dystrophy 2 | N1 Reference T1 MeSH:D009223 3 | T2 SpecificDisease 139 157 Myotonic dystrophy 4 | N2 Reference T2 MeSH:D009223 5 | T3 SpecificDisease 159 161 DM 6 | N3 Reference T3 MeSH:D009223 7 | T4 DiseaseClass 185 216 inherited neuromuscular disease 8 | N4 Reference T4 MeSH:D009468+D030342 9 | T5 DiseaseClass 232 246 genetic defect 10 | N5 Reference T5 MeSH:D030342 11 | T6 Modifier 317 335 myotonic dystrophy 12 | N6 Reference T6 MeSH:D009223 13 | T7 Modifier 1666 1668 DM 14 | N7 Reference T7 MeSH:D009223 15 | -------------------------------------------------------------------------------- /standoff/train/1302008.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 46 59 Wilms' tumour 2 | N1 Reference T1 MeSH:D009396 3 | T2 SpecificDisease 105 125 Denys-Drash syndrome 4 | N2 Reference T2 MeSH:D030321 5 | T3 DiseaseClass 142 164 developmental disorder 6 | N3 Reference T3 MeSH:D002658 7 | T4 DiseaseClass 212 225 renal failure 8 | N4 Reference T4 MeSH:D051437 9 | T5 DiseaseClass 227 245 intersex disorders 10 | N5 Reference T5 MeSH:D012734 11 | T6 SpecificDisease 250 262 Wilms tumour 12 | N6 Reference T6 MeSH:D009396 13 | T7 Modifier 371 383 Wilms tumour 14 | N7 Reference T7 MeSH:D009396 15 | -------------------------------------------------------------------------------- /standoff/train/2309142.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 22 25 PKU 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 132 147 Phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 149 152 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 DiseaseClass 159 175 genetic disorder 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 191 238 deficiency of hepatic phenylalanine hydroxylase 10 | N5 Reference T5 OMIM:261600 11 | T6 DiseaseClass 403 419 molecular lesion 12 | N6 Reference T6 MeSH:D030342 13 | T7 Modifier 481 484 PKU 14 | N7 Reference T7 MeSH:D010661 15 | -------------------------------------------------------------------------------- /standoff/train/2703233.txt: -------------------------------------------------------------------------------- 1 | Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). 2 | We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy (DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a maximum lod score (Zmax) of 22. 8 at a recombination frequency (theta) of 0. 03 was obtained. Tight linkage was also demonstrated for CKMM and the gene for apolipoprotein C2 (ApoC2). This establishes CKMM as a useful marker for myotonic dystrophy 3 | -------------------------------------------------------------------------------- /standoff/train/3455778.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 86 94 hepatoma 2 | N1 Reference T1 MeSH:D006528 3 | T2 SpecificDisease 102 117 Phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 119 122 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 SpecificDisease 137 195 deficiency of the hepatic enzyme phenylalanine hydroxylase 8 | N4 Reference T4 OMIM:261600 9 | T5 Modifier 870 878 hepatoma 10 | N5 Reference T5 MeSH:D006528 11 | T6 Modifier 1037 1045 hepatoma 12 | N6 Reference T6 MeSH:D006528 13 | T7 SpecificDisease 1322 1325 PKU 14 | N7 Reference T7 MeSH:D010661 15 | -------------------------------------------------------------------------------- /standoff/train/6540752.txt: -------------------------------------------------------------------------------- 1 | Genetic polymorphism of G6PD in a Bulgarian population. 2 | Considerable genetic heterogeneity in G6PD was found in the Bulgarian population-14 G6PD variants isolated from 117 hemizygous carriers of G6PD deficiency. Of these, G6PD Mediterranean type was a polymorphic variant and G6PD Corinth occurred with high frequency. Two new variants were identified-G6PD Rudosem and G6PD Nedelino. In a selected group of 78 subjects with clinical manifestations, four variants were established G6PD Mediterranian, G6PD Corinth, G6PD Seattle and G6PD Ohut II.. 3 | -------------------------------------------------------------------------------- /standoff/train/10594001.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 47 59 alkaptonuria 2 | N1 Reference T1 MeSH:D000474 3 | T2 SpecificDisease 70 82 Alkaptonuria 4 | N2 Reference T2 MeSH:D000474 5 | T3 SpecificDisease 84 87 AKU 6 | N3 Reference T3 MeSH:D000474 7 | T4 DiseaseClass 105 131 inborn error of metabolism 8 | N4 Reference T4 MeSH:D008661 9 | T5 Modifier 297 300 AKU 10 | N5 Reference T5 MeSH:D000474 11 | T6 Modifier 413 416 AKU 12 | N6 Reference T6 MeSH:D000474 13 | T7 Modifier 516 519 AKU 14 | N7 Reference T7 MeSH:D000474 15 | T8 Modifier 547 550 AKU 16 | N8 Reference T8 MeSH:D000474 17 | -------------------------------------------------------------------------------- /standoff/train/1338906.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 58 78 Denys-Drash syndrome 2 | N1 Reference T1 MeSH:D030321 3 | T2 SpecificDisease 84 104 Denys-Drash syndrome 4 | N2 Reference T2 MeSH:D030321 5 | T3 DiseaseClass 135 146 nephropathy 6 | N3 Reference T3 MeSH:D007674 7 | T4 DiseaseClass 148 169 genital abnormalities 8 | N4 Reference T4 MeSH:D014564 9 | T5 SpecificDisease 213 224 Wilms tumor 10 | N5 Reference T5 MeSH:D009396 11 | T6 SpecificDisease 270 283 renal failure 12 | N6 Reference T6 MeSH:D051437 13 | T7 Modifier 297 308 Wilms tumor 14 | N7 Reference T7 MeSH:D009396 15 | -------------------------------------------------------------------------------- /standoff/train/2450401.txt: -------------------------------------------------------------------------------- 1 | Duchenne muscular dystrophy gene expression in normal and diseased human muscle. 2 | A probe for the 5 end of the Duchenne muscular dystrophy (DMD) gene was used to study expression of the gene in normal human muscle, myogenic cell cultures, and muscle from patients with DMD. Expression was found in RNA from normal fetal muscle, adult cardiac and skeletal muscle, and cultured muscle after myoblast fusion. In DMD muscle, expression of this portion of the gene was also revealed by in situ RNA hybridization, particularly in regenerating muscle fibers.. 3 | -------------------------------------------------------------------------------- /standoff/train/7586656.txt: -------------------------------------------------------------------------------- 1 | Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. 2 | Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mothers normal X-chromosome.. 3 | -------------------------------------------------------------------------------- /standoff/devel/8825052.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 31 48 sporadic aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 SpecificDisease 110 137 bilateral sporadic aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 SpecificDisease 395 403 aniridia 6 | N3 Reference T3 MeSH:D015783 7 | T4 SpecificDisease 570 578 aniridia 8 | N4 Reference T4 MeSH:D015783 9 | T5 SpecificDisease 744 752 aniridia 10 | N5 Reference T5 MeSH:D015783 11 | T6 Modifier 810 827 familial aniridia 12 | N6 Reference T6 MeSH:D015783 13 | T7 DiseaseClass 878 902 chromosome abnormalities 14 | N7 Reference T7 MeSH:D002869 15 | -------------------------------------------------------------------------------- /standoff/test/9744473.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 53 81 metachromatic leukodystrophy 2 | N1 Reference T1 MeSH:D007966 3 | T2 SpecificDisease 83 112 Deficiency of arylsulfatase A 4 | N2 Reference T2 MeSH:D007966 5 | T3 SpecificDisease 143 171 metachromatic leukodystrophy 6 | N3 Reference T3 MeSH:D007966 7 | T4 SpecificDisease 173 176 MLD 8 | N4 Reference T4 MeSH:D007966 9 | T5 SpecificDisease 227 230 MLD 10 | N5 Reference T5 MeSH:D007966 11 | T6 SpecificDisease 320 323 MLD 12 | N6 Reference T6 MeSH:D007966 13 | T7 SpecificDisease 750 753 MLD 14 | N7 Reference T7 MeSH:D007966 15 | -------------------------------------------------------------------------------- /standoff/train/1322637.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 44 53 Tay-Sachs 2 | N1 Reference T1 MeSH:D013661 3 | T2 SpecificDisease 109 126 Tay-Sachs disease 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 128 131 TSD 6 | N3 Reference T3 MeSH:D013661 7 | T4 Modifier 291 294 TSD 8 | N4 Reference T4 MeSH:D013661 9 | T5 SpecificDisease 409 412 TSD 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 682 685 TSD 12 | N6 Reference T6 MeSH:D013661 13 | T7 Modifier 880 883 TSD 14 | N7 Reference T7 MeSH:D013661 15 | T8 SpecificDisease 1171 1188 Tay-Sachs disease 16 | N8 Reference T8 MeSH:D013661 17 | -------------------------------------------------------------------------------- /standoff/train/1327525.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 26 46 Denys-Drash syndrome 2 | N1 Reference T1 MeSH:D030321 3 | T2 SpecificDisease 66 86 Denys-Drash syndrome 4 | N2 Reference T2 MeSH:D030321 5 | T3 SpecificDisease 88 99 Wilms tumor 6 | N3 Reference T3 MeSH:D009396 7 | T4 DiseaseClass 101 118 genital anomalies 8 | N4 Reference T4 MeSH:D014564 9 | T5 SpecificDisease 124 135 nephropathy 10 | N5 Reference T5 MeSH:D007674 11 | T6 Modifier 214 225 Wilms tumor 12 | N6 Reference T6 MeSH:D009396 13 | T7 SpecificDisease 650 670 Denys-Drash syndrome 14 | N7 Reference T7 MeSH:D030321 15 | -------------------------------------------------------------------------------- /standoff/train/1733838.txt: -------------------------------------------------------------------------------- 1 | Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp. 2 | A highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11. 4-Xp11 4-Xp11. 23, has been used to refine further the localisation of the gene for Norrie disease (NDP). The results from a multiply informative crossover localize the NDP gene proximal to DXS7. In conjunction with information from 2 NDP patients who have a deletion for DXS7 but not for DSX426, our data indicate that the NDP gene lies between DXS7 and DXS426 on proximal Xp. 3 | -------------------------------------------------------------------------------- /standoff/train/7076260.txt: -------------------------------------------------------------------------------- 1 | Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. The description of 13 new variants. 2 | A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previously described forms of G6PD. This study illustrates the extreme heterogeneity of G6PD deficiency among the people of Papua New Guinea.. 3 | -------------------------------------------------------------------------------- /standoff/train/7652577.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 82 90 melanoma 2 | N1 Reference T1 MeSH:D008545 3 | T2 Modifier 155 160 tumor 4 | N2 Reference T2 MeSH:D009369 5 | T3 SpecificDisease 266 274 melanoma 6 | N3 Reference T3 MeSH:D008545 7 | T4 Modifier 335 343 melanoma 8 | N4 Reference T4 MeSH:D008545 9 | T5 SpecificDisease 650 658 melanoma 10 | N5 Reference T5 MeSH:D008545 11 | T6 SpecificDisease 668 677 melanomas 12 | N6 Reference T6 MeSH:D008545 13 | T7 Modifier 745 750 tumor 14 | N7 Reference T7 MeSH:D009369 15 | T8 Modifier 825 830 tumor 16 | N8 Reference T8 MeSH:D009369 17 | -------------------------------------------------------------------------------- /standoff/train/8434621.txt: -------------------------------------------------------------------------------- 1 | Familial Mediterranean fever in the colchicine era: the fate of one family. 2 | In order to demonstrate the effect of prophylactic colchicine treatment on the natural history of familial Mediterranean fever (FMF), a family is presented with 6 out of 9 siblings affected by FMF. Each patient represents a different stage of the amyloidotic kidney disease of FMF and the effect of continuous colchicine treatment on its course. Considered together, the members of this family present an almost complete clinical, genetic, and behavioral picture of the disease.. 3 | -------------------------------------------------------------------------------- /standoff/train/8551426.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 25 37 galactosemia 2 | N1 Reference T1 MeSH:D005693 3 | T2 SpecificDisease 103 115 galactosemia 4 | N2 Reference T2 MeSH:D005693 5 | T3 SpecificDisease 861 881 classic galactosemia 6 | N3 Reference T3 MeSH:D005693 7 | T4 SpecificDisease 948 960 galactosemia 8 | N4 Reference T4 MeSH:D005693 9 | T5 SpecificDisease 1025 1037 galactosemia 10 | N5 Reference T5 MeSH:D005693 11 | T6 SpecificDisease 1079 1091 galactosemia 12 | N6 Reference T6 MeSH:D005693 13 | T7 SpecificDisease 1328 1340 galactosemia 14 | N7 Reference T7 MeSH:D005693 15 | -------------------------------------------------------------------------------- /standoff/test/9705283.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 425 433 aniridia 2 | N1 Reference T1 MeSH:D015783 3 | T2 SpecificDisease 435 449 Peters anomaly 4 | N2 Reference T2 MeSH:C537884 5 | T3 SpecificDisease 451 479 autosomal dominant keratitis 6 | N3 Reference T3 MeSH:C537022 7 | T4 SpecificDisease 485 510 familial foveal dysplasia 8 | N4 Reference T4 OMIM:136520 9 | T5 SpecificDisease 592 600 aniridia 10 | N5 Reference T5 MeSH:D015783 11 | T6 SpecificDisease 757 765 Aniridia 12 | N6 Reference T6 MeSH:D015783 13 | T7 SpecificDisease 1524 1532 aniridia 14 | N7 Reference T7 MeSH:D015783 15 | -------------------------------------------------------------------------------- /standoff/test/9949197.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 68 101 Emery-Dreifuss muscular dystrophy 2 | N1 Reference T1 MeSH:D020389 3 | T2 SpecificDisease 173 206 Emery-Dreifuss muscular dystrophy 4 | N2 Reference T2 MeSH:D020389 5 | T3 SpecificDisease 208 212 EDMD 6 | N3 Reference T3 MeSH:D020389 7 | T4 DiseaseClass 1146 1161 cardiac defects 8 | N4 Reference T4 MeSH:D006330 9 | T5 SpecificDisease 1165 1169 EDMD 10 | N5 Reference T5 MeSH:D020389 11 | T6 SpecificDisease 1456 1460 EDMD 12 | N6 Reference T6 MeSH:D020389 13 | T7 SpecificDisease 1685 1689 EDMD 14 | N7 Reference T7 MeSH:D020389 15 | -------------------------------------------------------------------------------- /standoff/train/1346773.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 4 28 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 SpecificDisease 137 161 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | T3 SpecificDisease 163 166 WAS 6 | N3 Reference T3 MeSH:D014923 7 | T4 Modifier 362 365 WAS 8 | N4 Reference T4 MeSH:D014923 9 | T5 SpecificDisease 467 470 WAS 10 | N5 Reference T5 MeSH:D014923 11 | T6 Modifier 557 560 WAS 12 | N6 Reference T6 MeSH:D014923 13 | T7 Modifier 601 604 WAS 14 | N7 Reference T7 MeSH:D014923 15 | T8 Modifier 686 689 WAS 16 | N8 Reference T8 MeSH:D014923 17 | -------------------------------------------------------------------------------- /standoff/train/3524231.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 13 40 Duchenne muscular dystrophy 2 | N1 Reference T1 MeSH:D020388 3 | T2 SpecificDisease 236 263 Duchenne muscular dystrophy 4 | N2 Reference T2 MeSH:D020388 5 | T3 SpecificDisease 265 268 DMD 6 | N3 Reference T3 MeSH:D020388 7 | T4 SpecificDisease 374 377 DMD 8 | N4 Reference T4 MeSH:D020388 9 | T5 SpecificDisease 382 412 growth hormone (GH) deficiency 10 | N5 Reference T5 OMIM:262400 11 | T6 DiseaseClass 452 470 dystrophic process 12 | N6 Reference T6 MeSH:D009136 13 | T7 Modifier 1052 1055 DMD 14 | N7 Reference T7 MeSH:D020388 15 | -------------------------------------------------------------------------------- /standoff/train/8023850.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 15 Canavan disease 2 | N1 Reference T1 MeSH:D017825 3 | T2 SpecificDisease 65 80 Canavan disease 4 | N2 Reference T2 MeSH:D017825 5 | T3 DiseaseClass 87 121 autosomal recessive leukodystrophy 6 | N3 Reference T3 MeSH:D007966 7 | T4 SpecificDisease 136 164 deficiency of aspartoacylase 8 | N4 Reference T4 MeSH:D017825 9 | T5 Modifier 954 961 Canavan 10 | N5 Reference T5 MeSH:D017825 11 | T6 Modifier 1235 1242 Canavan 12 | N6 Reference T6 MeSH:D017825 13 | T7 SpecificDisease 1522 1537 Canavan disease 14 | N7 Reference T7 MeSH:D017825 15 | -------------------------------------------------------------------------------- /standoff/test/9385378.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 96 121 mucopolysaccharidosis IVA 2 | N1 Reference T1 OMIM:253000 3 | T2 SpecificDisease 123 148 Mucopolysaccharidosis IVA 4 | N2 Reference T2 OMIM:253000 5 | T3 SpecificDisease 150 157 MPS IVA 6 | N3 Reference T3 OMIM:253000 7 | T4 DiseaseClass 165 211 autosomal recessive lysosomal storage disorder 8 | N4 Reference T4 MeSH:D016464 9 | T5 DiseaseClass 224 238 genetic defect 10 | N5 Reference T5 MeSH:D030342 11 | T6 Modifier 498 505 MPS IVA 12 | N6 Reference T6 OMIM:253000 13 | T7 Modifier 772 779 MPS IVA 14 | N7 Reference T7 OMIM:253000 15 | -------------------------------------------------------------------------------- /standoff/test/9585606.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 4 19 hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 96 111 Hemochromatosis 4 | N2 Reference T2 MeSH:D006432 5 | T3 DiseaseClass 117 154 inherited disorder of iron metabolism 6 | N3 Reference T3 MeSH:D019189 7 | T4 SpecificDisease 192 205 iron overload 8 | N4 Reference T4 MeSH:D019190 9 | T5 SpecificDisease 210 225 premature death 10 | N5 Reference T5 MeSH:D003643 11 | T6 Modifier 231 246 hemochromatosis 12 | N6 Reference T6 MeSH:D006432 13 | T7 SpecificDisease 473 488 hemochromatosis 14 | N7 Reference T7 MeSH:D006432 15 | -------------------------------------------------------------------------------- /standoff/train/313733.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 24 Hereditary C2 deficiency 2 | N1 Reference T1 OMIM:217000 3 | T2 DiseaseClass 57 73 immunodeficiency 4 | N2 Reference T2 MeSH:D007153 5 | T3 SpecificDisease 86 99 C2 deficiency 6 | N3 Reference T3 OMIM:217000 7 | T4 DiseaseClass 150 166 immunodeficiency 8 | N4 Reference T4 MeSH:D007153 9 | T5 DiseaseClass 188 210 hypoimmunoglobulinemia 10 | N5 Reference T5 MeSH:D007153 11 | T6 DiseaseClass 353 378 chromosomal abnormalities 12 | N6 Reference T6 MeSH:D002869 13 | T7 SpecificDisease 498 511 C2 deficiency 14 | N7 Reference T7 OMIM:217000 15 | -------------------------------------------------------------------------------- /standoff/train/8178825.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 18 Huntington disease 2 | N1 Reference T1 MeSH:D006816 3 | T2 SpecificDisease 79 97 Huntington disease 4 | N2 Reference T2 MeSH:D006816 5 | T3 SpecificDisease 99 101 HD 6 | N3 Reference T3 MeSH:D006816 7 | T4 SpecificDisease 619 621 HD 8 | N4 Reference T4 MeSH:D006816 9 | T5 SpecificDisease 823 825 HD 10 | N5 Reference T5 MeSH:D006816 11 | T6 Modifier 966 968 HD 12 | N6 Reference T6 MeSH:D006816 13 | T7 SpecificDisease 1209 1211 HD 14 | N7 Reference T7 MeSH:D006816 15 | T8 SpecificDisease 1358 1360 HD 16 | N8 Reference T8 MeSH:D006816 17 | -------------------------------------------------------------------------------- /standoff/train/1671851.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 20 49 X-linked adrenoleukodystrophy 2 | N1 Reference T1 MeSH:D000326 3 | T2 SpecificDisease 233 262 X-linked adrenoleukodystrophy 4 | N2 Reference T2 MeSH:D000326 5 | T3 SpecificDisease 264 267 ALD 6 | N3 Reference T3 MeSH:D000326 7 | T4 SpecificDisease 391 394 ALD 8 | N4 Reference T4 MeSH:D000326 9 | T5 SpecificDisease 552 555 ALD 10 | N5 Reference T5 MeSH:D000326 11 | T6 SpecificDisease 611 614 ALD 12 | N6 Reference T6 MeSH:D000326 13 | T7 DiseaseClass 713 756 abnormalities in the vision blindness genes 14 | N7 Reference T7 MeSH:D003117 15 | -------------------------------------------------------------------------------- /standoff/train/1684088.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 55 83 metachromatic leukodystrophy 2 | N1 Reference T1 MeSH:D007966 3 | T2 Modifier 85 88 MLD 4 | N2 Reference T2 MeSH:D007966 5 | T3 SpecificDisease 179 207 metachromatic leukodystrophy 6 | N3 Reference T3 MeSH:D007966 7 | T4 SpecificDisease 209 212 MLD 8 | N4 Reference T4 MeSH:D007966 9 | T5 Modifier 1333 1336 MLD 10 | N5 Reference T5 MeSH:D007966 11 | T6 Modifier 1519 1522 MLD 12 | N6 Reference T6 MeSH:D007966 13 | T7 Modifier 1767 1770 MLD 14 | N7 Reference T7 MeSH:D007966 15 | T8 SpecificDisease 1990 1993 MLD 16 | N8 Reference T8 MeSH:D007966 17 | -------------------------------------------------------------------------------- /standoff/train/1709636.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 102 117 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 119 134 Phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 136 139 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 DiseaseClass 147 174 autosomal recessive disease 8 | N4 Reference T4 MeSH:D030342 9 | T5 SpecificDisease 182 239 deficiency of a hepatic enzyme, phenylalanine hydroxylase 10 | N5 Reference T5 OMIM:261600 11 | T6 SpecificDisease 294 297 PKU 12 | N6 Reference T6 MeSH:D010661 13 | T7 Modifier 888 891 PKU 14 | N7 Reference T7 MeSH:D010661 15 | -------------------------------------------------------------------------------- /standoff/train/10364525.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 25 51 hereditary prostate cancer 2 | N1 Reference T1 MeSH:C537243 3 | T2 SpecificDisease 144 159 prostate cancer 4 | N2 Reference T2 MeSH:D011471 5 | T3 SpecificDisease 161 176 Prostate cancer 6 | N3 Reference T3 MeSH:D011471 7 | T4 SpecificDisease 466 481 prostate cancer 8 | N4 Reference T4 MeSH:D011471 9 | T5 SpecificDisease 599 625 hereditary prostate cancer 10 | N5 Reference T5 MeSH:C537243 11 | T6 SpecificDisease 627 630 HPC 12 | N6 Reference T6 MeSH:C537243 13 | T7 SpecificDisease 1451 1466 prostate cancer 14 | N7 Reference T7 MeSH:D011471 15 | -------------------------------------------------------------------------------- /standoff/train/1968617.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 34 phenylketonuria 2 | N1 Reference T1 MeSH:D010661 3 | T2 SpecificDisease 53 68 Phenylketonuria 4 | N2 Reference T2 MeSH:D010661 5 | T3 SpecificDisease 70 73 PKU 6 | N3 Reference T3 MeSH:D010661 7 | T4 DiseaseClass 80 97 metabolic disease 8 | N4 Reference T4 MeSH:D008659 9 | T5 SpecificDisease 218 221 PKU 10 | N5 Reference T5 MeSH:D010661 11 | T6 Modifier 436 439 PKU 12 | N6 Reference T6 MeSH:D010661 13 | T7 Modifier 600 603 PKU 14 | N7 Reference T7 MeSH:D010661 15 | T8 DiseaseClass 1036 1050 genetic defect 16 | N8 Reference T8 MeSH:D030342 17 | -------------------------------------------------------------------------------- /standoff/train/3789016.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 33 80 deficiency of the third component of complement 2 | N1 Reference T1 OMIM:613779 3 | T2 SpecificDisease 130 143 C3 deficiency 4 | N2 Reference T2 OMIM:613779 5 | T3 SpecificDisease 278 291 C3 deficiency 6 | N3 Reference T3 OMIM:613779 7 | T4 SpecificDisease 506 519 C3 deficiency 8 | N4 Reference T4 OMIM:613779 9 | T5 SpecificDisease 670 683 C3 deficiency 10 | N5 Reference T5 OMIM:613779 11 | T6 SpecificDisease 791 804 C3 deficiency 12 | N6 Reference T6 OMIM:613779 13 | T7 SpecificDisease 885 898 C3 deficiency 14 | N7 Reference T7 OMIM:613779 15 | -------------------------------------------------------------------------------- /standoff/train/409732.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 24 Hereditary C7 deficiency 2 | N1 Reference T1 OMIM:610102 3 | T2 SpecificDisease 162 184 ankylosing spondylitis 4 | N2 Reference T2 MeSH:D013167 5 | T3 SpecificDisease 189 237 deficient in the seventh component of complement 6 | N3 Reference T3 OMIM:610102 7 | T4 SpecificDisease 707 720 C7 deficiency 8 | N4 Reference T4 OMIM:610102 9 | T5 SpecificDisease 1013 1026 CM deficienty 10 | N5 Reference T5 OMIM:610102 11 | T6 CompositeMention 1106 1141 complement deficiencies (C2 and C7) 12 | N6 Reference T6 OMIM:610102 13 | N7 Reference T6 OMIM:217000 14 | -------------------------------------------------------------------------------- /standoff/train/7106752.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 38 89 glucose-6-phosphate dehydrogenase (G6PD) deficiency 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 151 157 favism 4 | N2 Reference T2 MeSH:D005236 5 | T3 SpecificDisease 519 535 hemolytic anemia 6 | N3 Reference T3 MeSH:D000743 7 | T4 Modifier 1197 1211 deficient G6PD 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 1504 1519 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | T6 SpecificDisease 1629 1635 Favism 12 | N6 Reference T6 MeSH:D005236 13 | T7 SpecificDisease 1840 1846 favism 14 | N7 Reference T7 MeSH:D005236 15 | -------------------------------------------------------------------------------- /standoff/train/7450778.txt: -------------------------------------------------------------------------------- 1 | Further evidence for heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. 2 | Four new G6PD variants have been characterized in individuals from Papua New Guinea. This study demonstrates that the previously reported Markham variant and the newly characterized Salata variant may be widely distributed in Papua New Guinea. Th data presented here together with those of previously published studies demonstrate a degree of heterogeneity of G6PD deficiency that is much higher than that in other regions of the world where G6PD deficiency is common.. 3 | -------------------------------------------------------------------------------- /standoff/devel/8755918.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 48 69 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 SpecificDisease 107 128 ataxia-telangiectasia 4 | N2 Reference T2 MeSH:D001260 5 | T3 SpecificDisease 130 133 A-T 6 | N3 Reference T3 MeSH:D001260 7 | T4 Modifier 261 264 A-T 8 | N4 Reference T4 MeSH:D001260 9 | T5 Modifier 476 479 A-T 10 | N5 Reference T5 MeSH:D001260 11 | T6 SpecificDisease 824 841 cerebellar ataxia 12 | N6 Reference T6 MeSH:D002524 13 | T7 Modifier 1004 1007 A-T 14 | N7 Reference T7 MeSH:D001260 15 | T8 SpecificDisease 1095 1098 A-T 16 | N8 Reference T8 MeSH:D001260 17 | -------------------------------------------------------------------------------- /standoff/test/941901.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 202 210 melanoma 2 | N1 Reference T1 MeSH:D008545 3 | T2 SpecificDisease 273 292 deficiency of hex A 4 | N2 Reference T2 MeSH:D013661 5 | T3 SpecificDisease 347 364 Tay-Sachs disease 6 | N3 Reference T3 MeSH:D013661 7 | T4 SpecificDisease 366 369 TSD 8 | N4 Reference T4 MeSH:D013661 9 | T5 Modifier 738 741 TSD 10 | N5 Reference T5 MeSH:D013661 11 | T6 Modifier 972 975 TSD 12 | N6 Reference T6 MeSH:D013661 13 | T7 SpecificDisease 1114 1117 TSD 14 | N7 Reference T7 MeSH:D013661 15 | T8 SpecificDisease 1151 1167 hex A deficiency 16 | N8 Reference T8 MeSH:D013661 17 | -------------------------------------------------------------------------------- /standoff/train/10612394.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 81 116 ataxia-telangiectasia-like disorder 2 | N1 Reference T1 OMIM:604391 3 | T2 SpecificDisease 223 258 ataxia-telangiectasia-like disorder 4 | N2 Reference T2 OMIM:604391 5 | T3 SpecificDisease 260 264 ATLD 6 | N3 Reference T3 OMIM:604391 7 | T4 SpecificDisease 356 359 A-T 8 | N4 Reference T4 MeSH:D001260 9 | T5 SpecificDisease 371 374 NBS 10 | N5 Reference T5 MeSH:D049932 11 | T6 SpecificDisease 387 425 hypersensitivity to ionizing radiation 12 | N6 Reference T6 MeSH:D004194 13 | T7 SpecificDisease 924 927 A-T 14 | N7 Reference T7 MeSH:D001260 15 | -------------------------------------------------------------------------------- /standoff/train/10633128.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 17 Friedreich ataxia 2 | N1 Reference T1 MeSH:D005621 3 | T2 SpecificDisease 32 49 Friedreich ataxia 4 | N2 Reference T2 MeSH:D005621 5 | T3 DiseaseClass 54 99 autosomal recessive neurodegenerative disease 6 | N3 Reference T3 MeSH:D020271 7 | T4 SpecificDisease 127 144 inherited ataxias 8 | N4 Reference T4 MeSH:D013132 9 | T5 SpecificDisease 290 307 Friedreich ataxia 10 | N5 Reference T5 MeSH:D005621 11 | T6 SpecificDisease 508 525 Friedreich ataxia 12 | N6 Reference T6 MeSH:D005621 13 | T7 Modifier 782 786 FRDA 14 | N7 Reference T7 MeSH:D005621 15 | -------------------------------------------------------------------------------- /standoff/devel/8871666.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 19 62 combined subtotal deficiencies of C6 and C7 2 | N1 Reference T1 OMIM:612446 3 | N2 Reference T1 OMIM:610102 4 | T2 CompositeMention 104 126 C6 and C7 deficiencies 5 | N3 Reference T2 OMIM:612446 6 | N4 Reference T2 OMIM:610102 7 | T3 SpecificDisease 128 169 Combined subtotal deficiency of C6 and C7 8 | N5 Reference T3 OMIM:612446 9 | N6 Reference T3 OMIM:610102 10 | T4 CompositeMention 965 984 C6 or C7 deficiency 11 | N7 Reference T4 OMIM:612446 12 | N8 Reference T4 OMIM:610102 13 | T5 Modifier 1047 1059 C6-deficient 14 | N9 Reference T5 OMIM:612446 15 | -------------------------------------------------------------------------------- /standoff/devel/9028321.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 48 87 autoimmune lymphoproliferative syndrome 2 | N1 Reference T1 MeSH:D056735 3 | T2 SpecificDisease 444 483 autoimmune lymphoproliferative syndrome 4 | N2 Reference T2 MeSH:D056735 5 | T3 SpecificDisease 485 489 ALPS 6 | N3 Reference T3 MeSH:D056735 7 | T4 SpecificDisease 586 590 ALPS 8 | N4 Reference T4 MeSH:D056735 9 | T5 DiseaseClass 785 797 splenomegaly 10 | N5 Reference T5 MeSH:D013163 11 | T6 DiseaseClass 802 817 lymphadenopathy 12 | N6 Reference T6 MeSH:D008206 13 | T7 DiseaseClass 849 874 autoimmune manifestations 14 | N7 Reference T7 MeSH:D001327 15 | -------------------------------------------------------------------------------- /standoff/test/9792409.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 36 57 ataxia-telangiectasia 2 | N1 Reference T1 MeSH:D001260 3 | T2 DiseaseClass 151 179 autosomal recessive disorder 4 | N2 Reference T2 MeSH:D030342 5 | T3 SpecificDisease 180 201 ataxia-telangiectasia 6 | N3 Reference T3 MeSH:D001260 7 | T4 SpecificDisease 203 206 A-T 8 | N4 Reference T4 MeSH:D001260 9 | T5 Modifier 284 287 A-T 10 | N5 Reference T5 MeSH:D001260 11 | T6 Modifier 1019 1022 A-T 12 | N6 Reference T6 MeSH:D001260 13 | T7 Modifier 1077 1080 A-T 14 | N7 Reference T7 MeSH:D001260 15 | T8 SpecificDisease 1526 1529 A-T 16 | N8 Reference T8 MeSH:D001260 17 | -------------------------------------------------------------------------------- /standoff/train/10090890.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 23 38 hemochromatosis 2 | N1 Reference T1 MeSH:D006432 3 | T2 SpecificDisease 61 84 Genetic hemochromatosis 4 | N2 Reference T2 MeSH:D006432 5 | T3 SpecificDisease 86 88 GH 6 | N3 Reference T3 MeSH:D006432 7 | T4 Modifier 193 195 GH 8 | N4 Reference T4 MeSH:D006432 9 | T5 Modifier 351 353 GH 10 | N5 Reference T5 MeSH:D006432 11 | T6 DiseaseClass 1467 1486 infectious diseases 12 | N6 Reference T6 MeSH:D003141 13 | T7 DiseaseClass 1524 1541 genetic disorders 14 | N7 Reference T7 MeSH:D030342 15 | T8 DiseaseClass 1550 1556 anemia 16 | N8 Reference T8 MeSH:D000740 17 | -------------------------------------------------------------------------------- /standoff/train/10364518.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 58 71 Lowe syndrome 2 | N1 Reference T1 MeSH:D009800 3 | T2 SpecificDisease 140 174 oculocerebrorenal syndrome of Lowe 4 | N2 Reference T2 MeSH:D009800 5 | T3 SpecificDisease 176 180 OCRL 6 | N3 Reference T3 MeSH:D009800 7 | T4 DiseaseClass 188 205 X-linked disorder 8 | N4 Reference T4 MeSH:D040181 9 | T5 CompositeMention 229 279 abnormalities of eyes, nervous system, and kidneys 10 | N5 Reference T5 MeSH:D000015 11 | T6 SpecificDisease 501 505 OCRL 12 | N6 Reference T6 MeSH:D009800 13 | T7 Modifier 1251 1264 Lowe syndrome 14 | N7 Reference T7 MeSH:D009800 15 | -------------------------------------------------------------------------------- /standoff/train/1776638.txt: -------------------------------------------------------------------------------- 1 | Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. 2 | We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22. 1----q31 1----q31. 1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies 3 | -------------------------------------------------------------------------------- /standoff/train/6902670.txt: -------------------------------------------------------------------------------- 1 | Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. 2 | Two siblings with chronic discoid lupus erythematosus and several family members were found with heterozygous C2 deficiency. An association with histocompatibility markers HLA-B18 and HLA-Dw2 was demonstrated, and the slow allotype of factor B was present. Linkage studies in this family suggested a close linkage between the C2 deficiency gene and genes coding for B18, Dw2, and BfS antigens. One HLA-ACB/DBf recombinant was observed showing closer linkage between HLA-D and Bf than between HLA-B and Bf.. 3 | -------------------------------------------------------------------------------- /standoff/train/8198124.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 32 52 prolidase deficiency 2 | N1 Reference T1 MeSH:D056732 3 | T2 SpecificDisease 88 108 prolidase deficiency 4 | N2 Reference T2 MeSH:D056732 5 | T3 DiseaseClass 135 163 autosomal recessive disorder 6 | N3 Reference T3 MeSH:D030342 7 | T4 SpecificDisease 181 198 iminodipeptiduria 8 | N4 Reference T4 MeSH:D000592 9 | T5 SpecificDisease 200 211 skin ulcers 10 | N5 Reference T5 MeSH:D012883 11 | T6 DiseaseClass 213 231 mental retardation 12 | N6 Reference T6 MeSH:D008607 13 | T7 SpecificDisease 1369 1389 prolidase deficiency 14 | N7 Reference T7 MeSH:D056732 15 | -------------------------------------------------------------------------------- /standoff/train/8279472.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 21 35 Wilson disease 2 | N1 Reference T1 MeSH:D006527 3 | T2 SpecificDisease 57 71 Wilson disease 4 | N2 Reference T2 MeSH:D006527 5 | T3 Modifier 228 242 Wilson disease 6 | N3 Reference T3 MeSH:D006527 7 | T4 SpecificDisease 249 252 WND 8 | N4 Reference T4 MeSH:D006527 9 | T5 SpecificDisease 410 413 WND 10 | N5 Reference T5 MeSH:D006527 11 | T6 SpecificDisease 604 607 WND 12 | N6 Reference T6 MeSH:D006527 13 | T7 SpecificDisease 737 740 WND 14 | N7 Reference T7 MeSH:D006527 15 | T8 SpecificDisease 901 915 Wilson disease 16 | N8 Reference T8 MeSH:D006527 17 | -------------------------------------------------------------------------------- /standoff/train/7437512.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 24 Wiskott-Aldrich syndrome 2 | N1 Reference T1 MeSH:D014923 3 | T2 SpecificDisease 147 171 Wiskott-Aldrich syndrome 4 | N2 Reference T2 MeSH:D014923 5 | T3 SpecificDisease 173 176 WAS 6 | N3 Reference T3 MeSH:D014923 7 | T4 Modifier 464 467 WAS 8 | N4 Reference T4 MeSH:D014923 9 | T5 Modifier 903 906 WAS 10 | N5 Reference T5 MeSH:D014923 11 | T6 Modifier 991 994 WAS 12 | N6 Reference T6 MeSH:D014923 13 | T7 SpecificDisease 1235 1257 Wiskott-Aldrich defect 14 | N7 Reference T7 MeSH:D014923 15 | T8 SpecificDisease 1486 1489 WAS 16 | N8 Reference T8 MeSH:D014923 17 | -------------------------------------------------------------------------------- /standoff/train/8075631.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 0 27 Familial male breast cancer 2 | N1 Reference T1 MeSH:D018567 3 | T2 SpecificDisease 80 93 Breast cancer 4 | N2 Reference T2 MeSH:D001943 5 | T3 SpecificDisease 260 278 male breast cancer 6 | N3 Reference T3 MeSH:D018567 7 | T4 Modifier 298 334 hereditary breast and ovarian cancer 8 | N4 Reference T4 MeSH:D061325 9 | T5 SpecificDisease 615 628 breast cancer 10 | N5 Reference T5 MeSH:D001943 11 | T6 SpecificDisease 673 691 male breast cancer 12 | N6 Reference T6 MeSH:D018567 13 | T7 SpecificDisease 754 772 male breast cancer 14 | N7 Reference T7 MeSH:D018567 15 | -------------------------------------------------------------------------------- /standoff/train/8533762.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 142 189 Deficiency of glucose-6-phosphate dehydrogenase 2 | N1 Reference T1 MeSH:D005955 3 | T2 SpecificDisease 262 269 malaria 4 | N2 Reference T2 MeSH:D008288 5 | T3 SpecificDisease 323 338 G6PD deficiency 6 | N3 Reference T3 MeSH:D005955 7 | T4 SpecificDisease 606 621 G6PD deficiency 8 | N4 Reference T4 MeSH:D005955 9 | T5 SpecificDisease 693 708 G6PD deficiency 10 | N5 Reference T5 MeSH:D005955 11 | T6 SpecificDisease 889 904 G6PD deficiency 12 | N6 Reference T6 MeSH:D005955 13 | T7 SpecificDisease 991 1006 G6PD deficiency 14 | N7 Reference T7 MeSH:D005955 15 | -------------------------------------------------------------------------------- /standoff/devel/8689689.ann: -------------------------------------------------------------------------------- 1 | T1 DiseaseClass 75 92 eye abnormalities 2 | N1 Reference T1 MeSH:D005124 3 | T2 SpecificDisease 94 102 Aniridia 4 | N2 Reference T2 MeSH:D015783 5 | T3 DiseaseClass 136 172 semidominant developmental disorders 6 | N3 Reference T3 MeSH:D002658 7 | T4 SpecificDisease 260 275 iris hypoplasia 8 | N4 Reference T4 MeSH:D007499 9 | T5 DiseaseClass 334 353 brain abnormalities 10 | N5 Reference T5 MeSH:D001927 11 | T6 DiseaseClass 673 711 developmental abnormalities of the eye 12 | N6 Reference T6 MeSH:D005124 13 | T7 DiseaseClass 961 982 developmental defects 14 | N7 Reference T7 MeSH:D002658 15 | -------------------------------------------------------------------------------- /standoff/test/9336417.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 18 40 ankylosing spondylitis 2 | N1 Reference T1 MeSH:D013167 3 | T2 SpecificDisease 199 221 ankylosing spondylitis 4 | N2 Reference T2 MeSH:D013167 5 | T3 SpecificDisease 223 225 AS 6 | N3 Reference T3 MeSH:D013167 7 | T4 SpecificDisease 248 250 AS 8 | N4 Reference T4 MeSH:D013167 9 | T5 DiseaseClass 304 322 Rheumatic Diseases 10 | N5 Reference T5 MeSH:D012216 11 | T6 SpecificDisease 808 810 AS 12 | N6 Reference T6 MeSH:D013167 13 | T7 SpecificDisease 1512 1514 AS 14 | N7 Reference T7 MeSH:D013167 15 | T8 SpecificDisease 1693 1695 AS 16 | N8 Reference T8 MeSH:D013167 17 | -------------------------------------------------------------------------------- /standoff/train/10797418.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 40 61 Prader-Willi syndrome 2 | N1 Reference T1 MeSH:D011218 3 | T2 SpecificDisease 136 157 Prader-Willi syndrome 4 | N2 Reference T2 MeSH:D011218 5 | T3 SpecificDisease 159 162 PWS 6 | N3 Reference T3 MeSH:D011218 7 | T4 SpecificDisease 219 222 PWS 8 | N4 Reference T4 MeSH:D011218 9 | T5 SpecificDisease 309 321 Familial PWS 10 | N5 Reference T5 MeSH:D011218 11 | T6 SpecificDisease 414 417 PWS 12 | N6 Reference T6 MeSH:D011218 13 | T7 SpecificDisease 946 949 PWS 14 | N7 Reference T7 MeSH:D011218 15 | T8 SpecificDisease 1137 1140 PWS 16 | N8 Reference T8 MeSH:D011218 17 | -------------------------------------------------------------------------------- /standoff/train/10814710.ann: -------------------------------------------------------------------------------- 1 | T1 Modifier 111 136 mucopolysaccharidosis IVA 2 | N1 Reference T1 OMIM:253000 3 | T2 SpecificDisease 149 174 Mucopolysaccharidosis IVA 4 | N2 Reference T2 OMIM:253000 5 | T3 SpecificDisease 176 183 MPS IVA 6 | N3 Reference T3 OMIM:253000 7 | T4 DiseaseClass 203 229 lysosomal storage disorder 8 | N4 Reference T4 MeSH:D016464 9 | T5 SpecificDisease 242 298 deficiency of N -acetylgalactosamine-6-sulfate sulfatase 10 | N5 Reference T5 OMIM:253000 11 | T6 Modifier 414 421 MPS IVA 12 | N6 Reference T6 OMIM:253000 13 | T7 SpecificDisease 1880 1887 MPS IVA 14 | N7 Reference T7 OMIM:253000 15 | -------------------------------------------------------------------------------- /standoff/train/1999552.ann: -------------------------------------------------------------------------------- 1 | T1 SpecificDisease 11 27 deficiency of C5 2 | N1 Reference T1 OMIM:609536 3 | T2 SpecificDisease 48 75 discoid lupus erythematosus 4 | N2 Reference T2 MeSH:D008179 5 | T3 SpecificDisease 102 129 discoid lupus erythematosus 6 | N3 Reference T3 MeSH:D008179 7 | T4 DiseaseClass 184 202 Hypocomplementemia 8 | N4 Reference T4 MeSH:D007153 9 | T5 SpecificDisease 224 240 deficiency of C5 10 | N5 Reference T5 OMIM:609536 11 | T6 SpecificDisease 359 386 discoid lupus erythematosus 12 | N6 Reference T6 MeSH:D008179 13 | T7 SpecificDisease 391 404 C5 deficiency 14 | N7 Reference T7 OMIM:609536 15 | --------------------------------------------------------------------------------