Id |
Subject |
Object |
Predicate |
Lexical cue |
T27 |
0-14 |
http://purl.bioontology.org/ontology/NDFRT/N0000000579 |
denotes |
Bloom syndrome |
T30 |
0-14 |
http://purl.bioontology.org/ontology/MESH/D001816 |
denotes |
Bloom syndrome |
T33 |
0-14 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
Bloom syndrome |
T38 |
0-14 |
http://purl.bioontology.org/ontology/SNOMEDCT/4434006 |
denotes |
Bloom syndrome |
T41 |
0-14 |
http://purl.bioontology.org/ontology/MEDDRA/10073032 |
denotes |
Bloom syndrome |
T44 |
0-14 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2903 |
denotes |
Bloom syndrome |
T47 |
6-14 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T50 |
6-14 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T2 |
36-45 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T34 |
49-52 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
BLM |
T54 |
49-52 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C313 |
denotes |
BLM |
T56 |
49-52 |
http://purl.obolibrary.org/obo/PR_000004759 |
denotes |
BLM |
T58 |
49-52 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20805 |
denotes |
BLM |
T60 |
49-52 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83609 |
denotes |
BLM |
T62 |
49-52 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17980 |
denotes |
BLM |
T64 |
57-70 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterized |
T65 |
74-82 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81318 |
denotes |
prenatal |
T68 |
83-88 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
T72 |
89-95 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64379 |
denotes |
growth |
T75 |
89-95 |
http://purl.obolibrary.org/obo/GO_0040007 |
denotes |
growth |
T78 |
89-95 |
http://purl.bioontology.org/ontology/OMIM/MTHU000046 |
denotes |
growth |
T81 |
89-95 |
http://purl.bioontology.org/ontology/MESH/D006128 |
denotes |
growth |
T84 |
89-95 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18825 |
denotes |
growth |
T87 |
89-95 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16648 |
denotes |
growth |
T71 |
89-106 |
http://purl.bioontology.org/ontology/OMIM/MTHU002219 |
denotes |
growth deficiency |
T90 |
96-106 |
http://purl.bioontology.org/ontology/SNOMEDCT/246199000 |
denotes |
deficiency |
T91 |
96-106 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94372 |
denotes |
deficiency |
T92 |
96-106 |
http://purl.bioontology.org/ontology/MESH/Q000172 |
denotes |
deficiency |
T103 |
108-113 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
T105 |
108-113 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
T107 |
108-113 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
T109 |
108-113 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
T93 |
108-121 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
T95 |
108-121 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
T97 |
108-121 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
T99 |
108-121 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
T101 |
108-121 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
T111 |
114-121 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
T117 |
154-159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96269 |
denotes |
malar |
T113 |
154-164 |
http://purl.bioontology.org/ontology/OMIM/MTHU004971 |
denotes |
malar rash |
T114 |
154-164 |
http://purl.bioontology.org/ontology/SNOMEDCT/30704002 |
denotes |
malar rash |
T115 |
154-164 |
http://purl.bioontology.org/ontology/MEDDRA/10067983 |
denotes |
malar rash |
T116 |
154-164 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117106 |
denotes |
malar rash |
T118 |
160-164 |
http://purl.bioontology.org/ontology/OMIM/MTHU047706 |
denotes |
rash |
T119 |
160-164 |
http://purl.obolibrary.org/obo/SYMP_0000487 |
denotes |
rash |
T120 |
160-164 |
http://purl.bioontology.org/ontology/NDFRT/N0000001170 |
denotes |
rash |
T121 |
160-164 |
http://purl.bioontology.org/ontology/MEDDRA/10037844 |
denotes |
rash |
T122 |
160-164 |
http://purl.bioontology.org/ontology/SNOMEDCT/112625008 |
denotes |
rash |
T123 |
160-164 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C39594 |
denotes |
rash |
T124 |
160-164 |
http://purl.bioontology.org/ontology/SNOMEDCT/271807003 |
denotes |
rash |
T125 |
170-179 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
T128 |
170-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
T131 |
180-186 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9305 |
denotes |
cancer |
T132 |
180-186 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0006826 |
denotes |
cancer |
T133 |
180-186 |
http://purl.bioontology.org/ontology/MEDDRA/10007050 |
denotes |
cancer |
T134 |
180-186 |
http://purl.obolibrary.org/obo/OBI_1110053 |
denotes |
cancer |
T135 |
187-201 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16505 |
denotes |
predisposition |
T136 |
230-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13379 |
denotes |
feature |
T137 |
230-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
feature |
T139 |
230-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70838 |
denotes |
feature |
T140 |
230-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73619 |
denotes |
feature |
T141 |
230-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44283 |
denotes |
feature |
T143 |
245-253 |
http://purl.bioontology.org/ontology/SNOMEDCT/386397008 |
denotes |
presence |
T144 |
245-253 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25626 |
denotes |
presence |
T145 |
245-253 |
http://purl.bioontology.org/ontology/SNOMEDCT/705057003 |
denotes |
presence |
T142 |
245-256 |
http://purl.bioontology.org/ontology/SNOMEDCT/52101004 |
denotes |
presence of |
T126 |
257-266 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
T129 |
257-266 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
T147 |
267-273 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25680 |
denotes |
sister |
T148 |
267-273 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48649 |
denotes |
sister |
T149 |
267-273 |
http://purl.bioontology.org/ontology/SNOMEDCT/27733009 |
denotes |
sister |
T150 |
267-273 |
http://purl.bioontology.org/ontology/MESH/D035781 |
denotes |
sister |
T146 |
267-283 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13455 |
denotes |
sister chromatid |
T151 |
274-283 |
http://purl.bioontology.org/ontology/SNOMEDCT/83314009 |
denotes |
chromatid |
T152 |
274-283 |
http://purl.org/sig/ont/fma/fma84719 |
denotes |
chromatid |
T153 |
274-283 |
http://purl.obolibrary.org/obo/GO_0005695 |
denotes |
chromatid |
T154 |
274-283 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13200 |
denotes |
chromatid |
T155 |
274-283 |
http://purl.bioontology.org/ontology/MESH/D002842 |
denotes |
chromatid |
T156 |
274-283 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromatid |
T158 |
304-315 |
http://purl.bioontology.org/ontology/MESH/D003582 |
denotes |
cytogenetic |
T160 |
304-315 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16487 |
denotes |
cytogenetic |
T162 |
316-323 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15336 |
denotes |
testing |
T3 |
353-362 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T8 |
366-371 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T15 |
366-371 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T21 |
366-371 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T163 |
375-378 |
http://purl.obolibrary.org/obo/PR_Q0VIA1 |
denotes |
ten |
T164 |
375-378 |
http://purl.bioontology.org/ontology/SNOMEDCT/3445001 |
denotes |
ten |
T165 |
375-378 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69122 |
denotes |
ten |
T166 |
375-378 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79777 |
denotes |
ten |
T167 |
375-378 |
http://purl.bioontology.org/ontology/MEDDRA/10043221 |
denotes |
ten |
T66 |
396-404 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81318 |
denotes |
prenatal |
T69 |
405-410 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
T73 |
411-417 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64379 |
denotes |
growth |
T76 |
411-417 |
http://purl.obolibrary.org/obo/GO_0040007 |
denotes |
growth |
T79 |
411-417 |
http://purl.bioontology.org/ontology/OMIM/MTHU000046 |
denotes |
growth |
T82 |
411-417 |
http://purl.bioontology.org/ontology/MESH/D006128 |
denotes |
growth |
T85 |
411-417 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18825 |
denotes |
growth |
T88 |
411-417 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16648 |
denotes |
growth |
T168 |
418-429 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53452 |
denotes |
restriction |
T170 |
434-446 |
http://purl.bioontology.org/ontology/OMIM/MTHU036340 |
denotes |
microcephaly |
T171 |
434-446 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85874 |
denotes |
microcephaly |
T172 |
434-446 |
http://purl.bioontology.org/ontology/ICD10/Q02 |
denotes |
microcephaly |
T173 |
434-446 |
http://purl.bioontology.org/ontology/MEDDRA/10027534 |
denotes |
microcephaly |
T174 |
434-446 |
http://purl.bioontology.org/ontology/NDFRT/N0000002010 |
denotes |
microcephaly |
T175 |
434-446 |
http://purl.bioontology.org/ontology/MESH/D008831 |
denotes |
microcephaly |
T9 |
448-453 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T16 |
448-453 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T22 |
448-453 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T178 |
462-475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20646 |
denotes |
topoisomerase |
T179 |
462-475 |
http://purl.obolibrary.org/obo/GO_0003917 |
denotes |
topoisomerase |
T180 |
462-475 |
http://purl.obolibrary.org/obo/GO_0003918 |
denotes |
topoisomerase |
T176 |
462-479 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17340 |
denotes |
topoisomerase III |
T177 |
462-479 |
http://purl.bioontology.org/ontology/MESH/C061471 |
denotes |
topoisomerase III |
T10 |
462-485 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
topoisomerase III alpha |
T181 |
476-479 |
http://purl.bioontology.org/ontology/SNOMEDCT/257471003 |
denotes |
III |
T182 |
476-479 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C153956 |
denotes |
III |
T183 |
476-479 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49464 |
denotes |
III |
T184 |
480-485 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C72484 |
denotes |
alpha |
T185 |
480-485 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86942 |
denotes |
alpha |
T186 |
480-485 |
http://purl.bioontology.org/ontology/SNOMEDCT/263660008 |
denotes |
alpha |
T187 |
480-485 |
http://purl.obolibrary.org/obo/PR_000001067 |
denotes |
alpha |
T35 |
512-515 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
BLM |
T55 |
512-515 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C313 |
denotes |
BLM |
T57 |
512-515 |
http://purl.obolibrary.org/obo/PR_000004759 |
denotes |
BLM |
T59 |
512-515 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20805 |
denotes |
BLM |
T61 |
512-515 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83609 |
denotes |
BLM |
T63 |
512-515 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17980 |
denotes |
BLM |
T188 |
519-526 |
http://purl.bioontology.org/ontology/SNOMEDCT/123005000 |
denotes |
part of |
T189 |
536-543 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
T192 |
536-543 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
T195 |
536-543 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
T198 |
536-543 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
T201 |
536-543 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
T204 |
558-569 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134253 |
denotes |
dissolution |
T205 |
558-569 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113023 |
denotes |
dissolution |
T206 |
573-579 |
http://purl.bioontology.org/ontology/SNOMEDCT/1305003 |
denotes |
double |
T207 |
573-579 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54574 |
denotes |
double |
T208 |
573-579 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48870 |
denotes |
double |
T209 |
573-579 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62265 |
denotes |
double |
T210 |
580-598 |
http://purl.bioontology.org/ontology/NDFRT/N0000170677 |
denotes |
Holliday junctions |
T211 |
599-606 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130974 |
denotes |
arising |
T216 |
614-624 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28709 |
denotes |
homologous |
T212 |
614-638 |
http://purl.obolibrary.org/obo/GO_0035825 |
denotes |
homologous recombination |
T213 |
614-638 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18144 |
denotes |
homologous recombination |
T214 |
614-638 |
http://purl.bioontology.org/ontology/MESH/D059765 |
denotes |
homologous recombination |
T215 |
614-638 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91483 |
denotes |
homologous recombination |
T217 |
625-638 |
http://purl.bioontology.org/ontology/MESH/D011995 |
denotes |
recombination |
T219 |
625-638 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17082 |
denotes |
recombination |
T222 |
659-669 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45826 |
denotes |
homozygous |
T223 |
681-688 |
http://purl.bioontology.org/ontology/SNOMEDCT/40885006 |
denotes |
variant |
T224 |
681-688 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25713 |
denotes |
variant |
T225 |
692-696 |
http://purl.obolibrary.org/obo/PR_000014036 |
denotes |
RMI1 |
T226 |
720-729 |
http://purl.bioontology.org/ontology/SNOMEDCT/246093002 |
denotes |
component |
T227 |
720-729 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45994 |
denotes |
component |
T228 |
720-729 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40565 |
denotes |
component |
T229 |
720-729 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48792 |
denotes |
component |
T190 |
742-749 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
T193 |
742-749 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
T196 |
742-749 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
T199 |
742-749 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
T202 |
742-749 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
T230 |
775-788 |
http://purl.bioontology.org/ontology/MEDDRA/10027532 |
denotes |
microcephalic |
T231 |
789-797 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013336 |
denotes |
dwarfism |
T232 |
789-797 |
http://purl.bioontology.org/ontology/MESH/D004392 |
denotes |
dwarfism |
T233 |
789-797 |
http://purl.bioontology.org/ontology/MEDDRA/10013883 |
denotes |
dwarfism |
T234 |
789-797 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34554 |
denotes |
dwarfism |
T235 |
789-797 |
http://purl.bioontology.org/ontology/NDFRT/N0000001012 |
denotes |
dwarfism |
T236 |
789-797 |
http://purl.bioontology.org/ontology/OMIM/MTHU009274 |
denotes |
dwarfism |
T11 |
803-808 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T17 |
803-808 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T23 |
803-808 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T4 |
809-818 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T237 |
840-848 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C111153 |
denotes |
cellular |
T238 |
840-848 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12508 |
denotes |
cellular |
T240 |
849-855 |
http://purl.bioontology.org/ontology/SNOMEDCT/258395000 |
denotes |
levels |
T239 |
895-900 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12508 |
denotes |
cells |
T241 |
895-900 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48938 |
denotes |
cells |
T242 |
895-900 |
http://purl.bioontology.org/ontology/NDFRT/N0000184307 |
denotes |
cells |
T243 |
895-900 |
http://purl.bioontology.org/ontology/MESH/D002477 |
denotes |
cells |
T244 |
913-921 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25493 |
denotes |
elevated |
T245 |
936-946 |
http://purl.bioontology.org/ontology/SNOMEDCT/263921008 |
denotes |
Unresolved |
T247 |
947-950 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
T249 |
947-950 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
T251 |
947-950 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
T253 |
947-950 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
T255 |
947-950 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
T220 |
947-964 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17082 |
denotes |
DNA recombination |
T246 |
947-964 |
http://purl.obolibrary.org/obo/GO_0006310 |
denotes |
DNA recombination |
T218 |
951-964 |
http://purl.bioontology.org/ontology/MESH/D011995 |
denotes |
recombination |
T221 |
951-964 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17082 |
denotes |
recombination |
T257 |
965-971 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48928 |
denotes |
and/or |
T258 |
972-983 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16514 |
denotes |
replication |
T259 |
1011-1018 |
http://purl.bioontology.org/ontology/MESH/D008938 |
denotes |
mitosis |
T260 |
1011-1018 |
http://purl.obolibrary.org/obo/GO_0000278 |
denotes |
mitosis |
T261 |
1011-1018 |
http://purl.bioontology.org/ontology/SNOMEDCT/7041004 |
denotes |
mitosis |
T262 |
1011-1018 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16864 |
denotes |
mitosis |
T263 |
1020-1027 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25629 |
denotes |
leading |
T157 |
1031-1041 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
T267 |
1031-1041 |
http://purl.bioontology.org/ontology/MESH/D002875 |
denotes |
chromosome |
T268 |
1031-1041 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13202 |
denotes |
chromosome |
T269 |
1031-1041 |
http://purl.bioontology.org/ontology/SNOMEDCT/91272006 |
denotes |
chromosome |
T270 |
1031-1041 |
http://purl.org/sig/ont/fma/fma67093 |
denotes |
chromosome |
T271 |
1031-1041 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
T264 |
1031-1053 |
http://purl.bioontology.org/ontology/MESH/D020090 |
denotes |
chromosome segregation |
T265 |
1031-1053 |
http://purl.obolibrary.org/obo/GO_0007059 |
denotes |
chromosome segregation |
T266 |
1031-1053 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28547 |
denotes |
chromosome segregation |
T273 |
1066-1072 |
http://purl.bioontology.org/ontology/SNOMEDCT/18470003 |
denotes |
genome |
T274 |
1066-1072 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genome |
T275 |
1066-1072 |
http://purl.org/sig/ont/fma/fma84116 |
denotes |
genome |
T276 |
1066-1072 |
http://purl.bioontology.org/ontology/MESH/D016678 |
denotes |
genome |
T272 |
1066-1084 |
http://purl.bioontology.org/ontology/NDFRT/N0000011059 |
denotes |
genome instability |
T277 |
1073-1084 |
http://purl.bioontology.org/ontology/SNOMEDCT/410728007 |
denotes |
instability |
T74 |
1114-1120 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64379 |
denotes |
growth |
T77 |
1114-1120 |
http://purl.obolibrary.org/obo/GO_0040007 |
denotes |
growth |
T80 |
1114-1120 |
http://purl.bioontology.org/ontology/OMIM/MTHU000046 |
denotes |
growth |
T83 |
1114-1120 |
http://purl.bioontology.org/ontology/MESH/D006128 |
denotes |
growth |
T86 |
1114-1120 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18825 |
denotes |
growth |
T89 |
1114-1120 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16648 |
denotes |
growth |
T169 |
1121-1132 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53452 |
denotes |
restriction |
T28 |
1163-1177 |
http://purl.bioontology.org/ontology/NDFRT/N0000000579 |
denotes |
Bloom syndrome |
T31 |
1163-1177 |
http://purl.bioontology.org/ontology/MESH/D001816 |
denotes |
Bloom syndrome |
T36 |
1163-1177 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
Bloom syndrome |
T39 |
1163-1177 |
http://purl.bioontology.org/ontology/SNOMEDCT/4434006 |
denotes |
Bloom syndrome |
T42 |
1163-1177 |
http://purl.bioontology.org/ontology/MEDDRA/10073032 |
denotes |
Bloom syndrome |
T45 |
1163-1177 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2903 |
denotes |
Bloom syndrome |
T48 |
1169-1177 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T51 |
1169-1177 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T278 |
1179-1187 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
Clinical |
T279 |
1179-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
Clinical |
T280 |
1179-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
Clinical |
T281 |
1179-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
Clinical |
T138 |
1188-1196 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
features |
T282 |
1200-1213 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
T284 |
1200-1213 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
T286 |
1214-1225 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53526 |
denotes |
dysfunction |
T287 |
1214-1225 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20632 |
denotes |
dysfunction |
T12 |
1276-1281 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T18 |
1276-1281 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T24 |
1276-1281 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T5 |
1282-1291 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T289 |
1293-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T288 |
1293-1308 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent with |
T290 |
1293-1308 |
http://purl.bioontology.org/ontology/SNOMEDCT/385433004 |
denotes |
consistent with |
T291 |
1322-1330 |
http://purl.bioontology.org/ontology/SNOMEDCT/733985002 |
denotes |
reported |
T292 |
1322-1330 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
reported |
T293 |
1331-1341 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25406 |
denotes |
additional |
T295 |
1342-1350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T296 |
1342-1350 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T297 |
1342-1350 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T298 |
1342-1350 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T299 |
1342-1350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T300 |
1342-1350 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T283 |
1365-1378 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
T285 |
1365-1378 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
T301 |
1365-1382 |
http://purl.org/sig/ont/fma/fma67199 |
denotes |
mitochondrial DNA |
T302 |
1365-1382 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mitochondrial DNA |
T303 |
1365-1382 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mitochondrial DNA |
T248 |
1379-1382 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
T250 |
1379-1382 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
T252 |
1379-1382 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
T254 |
1379-1382 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
T256 |
1379-1382 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
T304 |
1400-1407 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42581 |
denotes |
summary |
T305 |
1413-1421 |
http://purl.bioontology.org/ontology/MESH/Q000175 |
denotes |
findings |
T306 |
1413-1421 |
http://purl.obolibrary.org/obo/IAO_0000615 |
denotes |
findings |
T307 |
1413-1421 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103373 |
denotes |
findings |
T13 |
1432-1437 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T19 |
1432-1437 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T25 |
1432-1437 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T6 |
1438-1447 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T294 |
1454-1464 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25406 |
denotes |
additional |
T67 |
1474-1482 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81318 |
denotes |
prenatal |
T70 |
1483-1488 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
T104 |
1489-1494 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
T106 |
1489-1494 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
T108 |
1489-1494 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
T110 |
1489-1494 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
T94 |
1489-1502 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
T96 |
1489-1502 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
T98 |
1489-1502 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
T100 |
1489-1502 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
T102 |
1489-1502 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
T112 |
1495-1502 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
T127 |
1508-1517 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
T130 |
1508-1517 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
T159 |
1518-1529 |
http://purl.bioontology.org/ontology/MESH/D003582 |
denotes |
cytogenetic |
T161 |
1518-1529 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16487 |
denotes |
cytogenetic |
T308 |
1566-1574 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43431 |
denotes |
activity |
T309 |
1566-1574 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120914 |
denotes |
activity |
T310 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T311 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T312 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T313 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T314 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T315 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T316 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T317 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T318 |
1566-1574 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T319 |
1566-1574 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123268 |
denotes |
activity |
T320 |
1566-1574 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45329 |
denotes |
activity |
T321 |
1566-1574 |
http://purl.bioontology.org/ontology/SNOMEDCT/257733005 |
denotes |
activity |
T191 |
1587-1594 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
T194 |
1587-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
T197 |
1587-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
T200 |
1587-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
T203 |
1587-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
T322 |
1604-1616 |
http://purl.obolibrary.org/obo/GO_0009405 |
denotes |
pathogenesis |
T323 |
1604-1616 |
http://purl.bioontology.org/ontology/SNOMEDCT/263547006 |
denotes |
pathogenesis |
T324 |
1604-1616 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18264 |
denotes |
pathogenesis |