Id |
Subject |
Object |
Predicate |
Lexical cue |
T2 |
103-112 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T3 |
420-429 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T4 |
876-885 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T5 |
1349-1358 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T6 |
1505-1514 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T8 |
433-438 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T9 |
515-520 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T10 |
529-552 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
topoisomerase III alpha |
T11 |
870-875 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T12 |
1343-1348 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T13 |
1499-1504 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T15 |
433-438 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T16 |
515-520 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T17 |
870-875 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T18 |
1343-1348 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T19 |
1499-1504 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T21 |
433-438 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T22 |
515-520 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T23 |
870-875 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T24 |
1343-1348 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T25 |
1499-1504 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T27 |
67-81 |
http://purl.bioontology.org/ontology/NDFRT/N0000000579 |
denotes |
Bloom syndrome |
T28 |
1230-1244 |
http://purl.bioontology.org/ontology/NDFRT/N0000000579 |
denotes |
Bloom syndrome |
T30 |
67-81 |
http://purl.bioontology.org/ontology/MESH/D001816 |
denotes |
Bloom syndrome |
T31 |
1230-1244 |
http://purl.bioontology.org/ontology/MESH/D001816 |
denotes |
Bloom syndrome |
T33 |
67-81 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
Bloom syndrome |
T34 |
116-119 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
BLM |
T35 |
579-582 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
BLM |
T36 |
1230-1244 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
Bloom syndrome |
T38 |
67-81 |
http://purl.bioontology.org/ontology/SNOMEDCT/4434006 |
denotes |
Bloom syndrome |
T39 |
1230-1244 |
http://purl.bioontology.org/ontology/SNOMEDCT/4434006 |
denotes |
Bloom syndrome |
T41 |
67-81 |
http://purl.bioontology.org/ontology/MEDDRA/10073032 |
denotes |
Bloom syndrome |
T42 |
1230-1244 |
http://purl.bioontology.org/ontology/MEDDRA/10073032 |
denotes |
Bloom syndrome |
T44 |
67-81 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2903 |
denotes |
Bloom syndrome |
T45 |
1230-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2903 |
denotes |
Bloom syndrome |
T47 |
73-81 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T48 |
1236-1244 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T50 |
73-81 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T51 |
1236-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T54 |
116-119 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C313 |
denotes |
BLM |
T55 |
579-582 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C313 |
denotes |
BLM |
T56 |
116-119 |
http://purl.obolibrary.org/obo/PR_000004759 |
denotes |
BLM |
T57 |
579-582 |
http://purl.obolibrary.org/obo/PR_000004759 |
denotes |
BLM |
T58 |
116-119 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20805 |
denotes |
BLM |
T59 |
579-582 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20805 |
denotes |
BLM |
T60 |
116-119 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83609 |
denotes |
BLM |
T61 |
579-582 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83609 |
denotes |
BLM |
T62 |
116-119 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17980 |
denotes |
BLM |
T63 |
579-582 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17980 |
denotes |
BLM |
T64 |
124-137 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterized |
T65 |
141-149 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81318 |
denotes |
prenatal |
T66 |
463-471 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81318 |
denotes |
prenatal |
T67 |
1541-1549 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81318 |
denotes |
prenatal |
T68 |
150-155 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
T69 |
472-477 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
T70 |
1550-1555 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
T71 |
156-173 |
http://purl.bioontology.org/ontology/OMIM/MTHU002219 |
denotes |
growth deficiency |
T72 |
156-162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64379 |
denotes |
growth |
T73 |
478-484 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64379 |
denotes |
growth |
T74 |
1181-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64379 |
denotes |
growth |
T75 |
156-162 |
http://purl.obolibrary.org/obo/GO_0040007 |
denotes |
growth |
T76 |
478-484 |
http://purl.obolibrary.org/obo/GO_0040007 |
denotes |
growth |
T77 |
1181-1187 |
http://purl.obolibrary.org/obo/GO_0040007 |
denotes |
growth |
T78 |
156-162 |
http://purl.bioontology.org/ontology/OMIM/MTHU000046 |
denotes |
growth |
T79 |
478-484 |
http://purl.bioontology.org/ontology/OMIM/MTHU000046 |
denotes |
growth |
T80 |
1181-1187 |
http://purl.bioontology.org/ontology/OMIM/MTHU000046 |
denotes |
growth |
T81 |
156-162 |
http://purl.bioontology.org/ontology/MESH/D006128 |
denotes |
growth |
T82 |
478-484 |
http://purl.bioontology.org/ontology/MESH/D006128 |
denotes |
growth |
T83 |
1181-1187 |
http://purl.bioontology.org/ontology/MESH/D006128 |
denotes |
growth |
T84 |
156-162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18825 |
denotes |
growth |
T85 |
478-484 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18825 |
denotes |
growth |
T86 |
1181-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18825 |
denotes |
growth |
T87 |
156-162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16648 |
denotes |
growth |
T88 |
478-484 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16648 |
denotes |
growth |
T89 |
1181-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16648 |
denotes |
growth |
T90 |
163-173 |
http://purl.bioontology.org/ontology/SNOMEDCT/246199000 |
denotes |
deficiency |
T91 |
163-173 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94372 |
denotes |
deficiency |
T92 |
163-173 |
http://purl.bioontology.org/ontology/MESH/Q000172 |
denotes |
deficiency |
T93 |
175-188 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
T94 |
1556-1569 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
T95 |
175-188 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
T96 |
1556-1569 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
T97 |
175-188 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
T98 |
1556-1569 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
T99 |
175-188 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
T100 |
1556-1569 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
T101 |
175-188 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
T102 |
1556-1569 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
T103 |
175-180 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
T104 |
1556-1561 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
T105 |
175-180 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
T106 |
1556-1561 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
T107 |
175-180 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
T108 |
1556-1561 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
T109 |
175-180 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
T110 |
1556-1561 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
T111 |
181-188 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
T112 |
1562-1569 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
T113 |
221-231 |
http://purl.bioontology.org/ontology/OMIM/MTHU004971 |
denotes |
malar rash |
T114 |
221-231 |
http://purl.bioontology.org/ontology/SNOMEDCT/30704002 |
denotes |
malar rash |
T115 |
221-231 |
http://purl.bioontology.org/ontology/MEDDRA/10067983 |
denotes |
malar rash |
T116 |
221-231 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117106 |
denotes |
malar rash |
T117 |
221-226 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96269 |
denotes |
malar |
T118 |
227-231 |
http://purl.bioontology.org/ontology/OMIM/MTHU047706 |
denotes |
rash |
T119 |
227-231 |
http://purl.obolibrary.org/obo/SYMP_0000487 |
denotes |
rash |
T120 |
227-231 |
http://purl.bioontology.org/ontology/NDFRT/N0000001170 |
denotes |
rash |
T121 |
227-231 |
http://purl.bioontology.org/ontology/MEDDRA/10037844 |
denotes |
rash |
T122 |
227-231 |
http://purl.bioontology.org/ontology/SNOMEDCT/112625008 |
denotes |
rash |
T123 |
227-231 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C39594 |
denotes |
rash |
T124 |
227-231 |
http://purl.bioontology.org/ontology/SNOMEDCT/271807003 |
denotes |
rash |
T125 |
237-246 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
T126 |
324-333 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
T127 |
1575-1584 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
T128 |
237-246 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
T129 |
324-333 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
T130 |
1575-1584 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
T131 |
247-253 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9305 |
denotes |
cancer |
T132 |
247-253 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0006826 |
denotes |
cancer |
T133 |
247-253 |
http://purl.bioontology.org/ontology/MEDDRA/10007050 |
denotes |
cancer |
T134 |
247-253 |
http://purl.obolibrary.org/obo/OBI_1110053 |
denotes |
cancer |
T135 |
254-268 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16505 |
denotes |
predisposition |
T136 |
297-304 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13379 |
denotes |
feature |
T137 |
297-304 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
feature |
T138 |
1255-1263 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
features |
T139 |
297-304 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70838 |
denotes |
feature |
T140 |
297-304 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73619 |
denotes |
feature |
T141 |
297-304 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44283 |
denotes |
feature |
T142 |
312-323 |
http://purl.bioontology.org/ontology/SNOMEDCT/52101004 |
denotes |
presence of |
T143 |
312-320 |
http://purl.bioontology.org/ontology/SNOMEDCT/386397008 |
denotes |
presence |
T144 |
312-320 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25626 |
denotes |
presence |
T145 |
312-320 |
http://purl.bioontology.org/ontology/SNOMEDCT/705057003 |
denotes |
presence |
T146 |
334-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13455 |
denotes |
sister chromatid |
T147 |
334-340 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25680 |
denotes |
sister |
T148 |
334-340 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48649 |
denotes |
sister |
T149 |
334-340 |
http://purl.bioontology.org/ontology/SNOMEDCT/27733009 |
denotes |
sister |
T150 |
334-340 |
http://purl.bioontology.org/ontology/MESH/D035781 |
denotes |
sister |
T151 |
341-350 |
http://purl.bioontology.org/ontology/SNOMEDCT/83314009 |
denotes |
chromatid |
T152 |
341-350 |
http://purl.org/sig/ont/fma/fma84719 |
denotes |
chromatid |
T153 |
341-350 |
http://purl.obolibrary.org/obo/GO_0005695 |
denotes |
chromatid |
T154 |
341-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13200 |
denotes |
chromatid |
T155 |
341-350 |
http://purl.bioontology.org/ontology/MESH/D002842 |
denotes |
chromatid |
T156 |
341-350 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromatid |
T157 |
1098-1108 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
T158 |
371-382 |
http://purl.bioontology.org/ontology/MESH/D003582 |
denotes |
cytogenetic |
T159 |
1585-1596 |
http://purl.bioontology.org/ontology/MESH/D003582 |
denotes |
cytogenetic |
T160 |
371-382 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16487 |
denotes |
cytogenetic |
T161 |
1585-1596 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16487 |
denotes |
cytogenetic |
T162 |
383-390 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15336 |
denotes |
testing |
T163 |
442-445 |
http://purl.obolibrary.org/obo/PR_Q0VIA1 |
denotes |
ten |
T164 |
442-445 |
http://purl.bioontology.org/ontology/SNOMEDCT/3445001 |
denotes |
ten |
T165 |
442-445 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69122 |
denotes |
ten |
T166 |
442-445 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79777 |
denotes |
ten |
T167 |
442-445 |
http://purl.bioontology.org/ontology/MEDDRA/10043221 |
denotes |
ten |
T168 |
485-496 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53452 |
denotes |
restriction |
T169 |
1188-1199 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53452 |
denotes |
restriction |
T170 |
501-513 |
http://purl.bioontology.org/ontology/OMIM/MTHU036340 |
denotes |
microcephaly |
T171 |
501-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85874 |
denotes |
microcephaly |
T172 |
501-513 |
http://purl.bioontology.org/ontology/ICD10/Q02 |
denotes |
microcephaly |
T173 |
501-513 |
http://purl.bioontology.org/ontology/MEDDRA/10027534 |
denotes |
microcephaly |
T174 |
501-513 |
http://purl.bioontology.org/ontology/NDFRT/N0000002010 |
denotes |
microcephaly |
T175 |
501-513 |
http://purl.bioontology.org/ontology/MESH/D008831 |
denotes |
microcephaly |
T176 |
529-546 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17340 |
denotes |
topoisomerase III |
T177 |
529-546 |
http://purl.bioontology.org/ontology/MESH/C061471 |
denotes |
topoisomerase III |
T178 |
529-542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20646 |
denotes |
topoisomerase |
T179 |
529-542 |
http://purl.obolibrary.org/obo/GO_0003917 |
denotes |
topoisomerase |
T180 |
529-542 |
http://purl.obolibrary.org/obo/GO_0003918 |
denotes |
topoisomerase |
T181 |
543-546 |
http://purl.bioontology.org/ontology/SNOMEDCT/257471003 |
denotes |
III |
T182 |
543-546 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C153956 |
denotes |
III |
T183 |
543-546 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49464 |
denotes |
III |
T184 |
547-552 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C72484 |
denotes |
alpha |
T185 |
547-552 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86942 |
denotes |
alpha |
T186 |
547-552 |
http://purl.bioontology.org/ontology/SNOMEDCT/263660008 |
denotes |
alpha |
T187 |
547-552 |
http://purl.obolibrary.org/obo/PR_000001067 |
denotes |
alpha |
T188 |
586-593 |
http://purl.bioontology.org/ontology/SNOMEDCT/123005000 |
denotes |
part of |
T189 |
603-610 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
T190 |
809-816 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
T191 |
1654-1661 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
T192 |
603-610 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
T193 |
809-816 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
T194 |
1654-1661 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
T195 |
603-610 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
T196 |
809-816 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
T197 |
1654-1661 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
T198 |
603-610 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
T199 |
809-816 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
T200 |
1654-1661 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
T201 |
603-610 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
T202 |
809-816 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
T203 |
1654-1661 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
T204 |
625-636 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134253 |
denotes |
dissolution |
T205 |
625-636 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113023 |
denotes |
dissolution |
T206 |
640-646 |
http://purl.bioontology.org/ontology/SNOMEDCT/1305003 |
denotes |
double |
T207 |
640-646 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54574 |
denotes |
double |
T208 |
640-646 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48870 |
denotes |
double |
T209 |
640-646 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62265 |
denotes |
double |
T210 |
647-665 |
http://purl.bioontology.org/ontology/NDFRT/N0000170677 |
denotes |
Holliday junctions |
T211 |
666-673 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130974 |
denotes |
arising |
T212 |
681-705 |
http://purl.obolibrary.org/obo/GO_0035825 |
denotes |
homologous recombination |
T213 |
681-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18144 |
denotes |
homologous recombination |
T214 |
681-705 |
http://purl.bioontology.org/ontology/MESH/D059765 |
denotes |
homologous recombination |
T215 |
681-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91483 |
denotes |
homologous recombination |
T216 |
681-691 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28709 |
denotes |
homologous |
T217 |
692-705 |
http://purl.bioontology.org/ontology/MESH/D011995 |
denotes |
recombination |
T218 |
1018-1031 |
http://purl.bioontology.org/ontology/MESH/D011995 |
denotes |
recombination |
T219 |
692-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17082 |
denotes |
recombination |
T220 |
1014-1031 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17082 |
denotes |
DNA recombination |
T221 |
1018-1031 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17082 |
denotes |
recombination |
T222 |
726-736 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45826 |
denotes |
homozygous |
T223 |
748-755 |
http://purl.bioontology.org/ontology/SNOMEDCT/40885006 |
denotes |
variant |
T224 |
748-755 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25713 |
denotes |
variant |
T225 |
759-763 |
http://purl.obolibrary.org/obo/PR_000014036 |
denotes |
RMI1 |
T226 |
787-796 |
http://purl.bioontology.org/ontology/SNOMEDCT/246093002 |
denotes |
component |
T227 |
787-796 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45994 |
denotes |
component |
T228 |
787-796 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40565 |
denotes |
component |
T229 |
787-796 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48792 |
denotes |
component |
T230 |
842-855 |
http://purl.bioontology.org/ontology/MEDDRA/10027532 |
denotes |
microcephalic |
T231 |
856-864 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013336 |
denotes |
dwarfism |
T232 |
856-864 |
http://purl.bioontology.org/ontology/MESH/D004392 |
denotes |
dwarfism |
T233 |
856-864 |
http://purl.bioontology.org/ontology/MEDDRA/10013883 |
denotes |
dwarfism |
T234 |
856-864 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34554 |
denotes |
dwarfism |
T235 |
856-864 |
http://purl.bioontology.org/ontology/NDFRT/N0000001012 |
denotes |
dwarfism |
T236 |
856-864 |
http://purl.bioontology.org/ontology/OMIM/MTHU009274 |
denotes |
dwarfism |
T237 |
907-915 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C111153 |
denotes |
cellular |
T238 |
907-915 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12508 |
denotes |
cellular |
T239 |
962-967 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12508 |
denotes |
cells |
T240 |
916-922 |
http://purl.bioontology.org/ontology/SNOMEDCT/258395000 |
denotes |
levels |
T241 |
962-967 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48938 |
denotes |
cells |
T242 |
962-967 |
http://purl.bioontology.org/ontology/NDFRT/N0000184307 |
denotes |
cells |
T243 |
962-967 |
http://purl.bioontology.org/ontology/MESH/D002477 |
denotes |
cells |
T244 |
980-988 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25493 |
denotes |
elevated |
T245 |
1003-1013 |
http://purl.bioontology.org/ontology/SNOMEDCT/263921008 |
denotes |
Unresolved |
T246 |
1014-1031 |
http://purl.obolibrary.org/obo/GO_0006310 |
denotes |
DNA recombination |
T247 |
1014-1017 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
T248 |
1446-1449 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
T249 |
1014-1017 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
T250 |
1446-1449 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
T251 |
1014-1017 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
T252 |
1446-1449 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
T253 |
1014-1017 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
T254 |
1446-1449 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
T255 |
1014-1017 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
T256 |
1446-1449 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
T257 |
1032-1038 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48928 |
denotes |
and/or |
T258 |
1039-1050 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16514 |
denotes |
replication |
T259 |
1078-1085 |
http://purl.bioontology.org/ontology/MESH/D008938 |
denotes |
mitosis |
T260 |
1078-1085 |
http://purl.obolibrary.org/obo/GO_0000278 |
denotes |
mitosis |
T261 |
1078-1085 |
http://purl.bioontology.org/ontology/SNOMEDCT/7041004 |
denotes |
mitosis |
T262 |
1078-1085 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16864 |
denotes |
mitosis |
T263 |
1087-1094 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25629 |
denotes |
leading |
T264 |
1098-1120 |
http://purl.bioontology.org/ontology/MESH/D020090 |
denotes |
chromosome segregation |
T265 |
1098-1120 |
http://purl.obolibrary.org/obo/GO_0007059 |
denotes |
chromosome segregation |
T266 |
1098-1120 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28547 |
denotes |
chromosome segregation |
T267 |
1098-1108 |
http://purl.bioontology.org/ontology/MESH/D002875 |
denotes |
chromosome |
T268 |
1098-1108 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13202 |
denotes |
chromosome |
T269 |
1098-1108 |
http://purl.bioontology.org/ontology/SNOMEDCT/91272006 |
denotes |
chromosome |
T270 |
1098-1108 |
http://purl.org/sig/ont/fma/fma67093 |
denotes |
chromosome |
T271 |
1098-1108 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
T272 |
1133-1151 |
http://purl.bioontology.org/ontology/NDFRT/N0000011059 |
denotes |
genome instability |
T273 |
1133-1139 |
http://purl.bioontology.org/ontology/SNOMEDCT/18470003 |
denotes |
genome |
T274 |
1133-1139 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genome |
T275 |
1133-1139 |
http://purl.org/sig/ont/fma/fma84116 |
denotes |
genome |
T276 |
1133-1139 |
http://purl.bioontology.org/ontology/MESH/D016678 |
denotes |
genome |
T277 |
1140-1151 |
http://purl.bioontology.org/ontology/SNOMEDCT/410728007 |
denotes |
instability |
T278 |
1246-1254 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
Clinical |
T279 |
1246-1254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
Clinical |
T280 |
1246-1254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
Clinical |
T281 |
1246-1254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
Clinical |
T282 |
1267-1280 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
T283 |
1432-1445 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
T284 |
1267-1280 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
T285 |
1432-1445 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
T286 |
1281-1292 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53526 |
denotes |
dysfunction |
T287 |
1281-1292 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20632 |
denotes |
dysfunction |
T288 |
1360-1375 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent with |
T289 |
1360-1370 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T290 |
1360-1375 |
http://purl.bioontology.org/ontology/SNOMEDCT/385433004 |
denotes |
consistent with |
T291 |
1389-1397 |
http://purl.bioontology.org/ontology/SNOMEDCT/733985002 |
denotes |
reported |
T292 |
1389-1397 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
reported |
T293 |
1398-1408 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25406 |
denotes |
additional |
T294 |
1521-1531 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25406 |
denotes |
additional |
T295 |
1409-1417 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T296 |
1409-1417 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T297 |
1409-1417 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T298 |
1409-1417 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T299 |
1409-1417 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T300 |
1409-1417 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T301 |
1432-1449 |
http://purl.org/sig/ont/fma/fma67199 |
denotes |
mitochondrial DNA |
T302 |
1432-1449 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mitochondrial DNA |
T303 |
1432-1449 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mitochondrial DNA |
T304 |
1467-1474 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42581 |
denotes |
summary |
T305 |
1480-1488 |
http://purl.bioontology.org/ontology/MESH/Q000175 |
denotes |
findings |
T306 |
1480-1488 |
http://purl.obolibrary.org/obo/IAO_0000615 |
denotes |
findings |
T307 |
1480-1488 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103373 |
denotes |
findings |
T308 |
1633-1641 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43431 |
denotes |
activity |
T309 |
1633-1641 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120914 |
denotes |
activity |
T310 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T311 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T312 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T313 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T314 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T315 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T316 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T317 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T318 |
1633-1641 |
http://purl.bioontology.org/ontology/STY/T052 |
denotes |
activity |
T319 |
1633-1641 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123268 |
denotes |
activity |
T320 |
1633-1641 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45329 |
denotes |
activity |
T321 |
1633-1641 |
http://purl.bioontology.org/ontology/SNOMEDCT/257733005 |
denotes |
activity |
T322 |
1671-1683 |
http://purl.obolibrary.org/obo/GO_0009405 |
denotes |
pathogenesis |
T323 |
1671-1683 |
http://purl.bioontology.org/ontology/SNOMEDCT/263547006 |
denotes |
pathogenesis |
T324 |
1671-1683 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18264 |
denotes |
pathogenesis |
T1 |
0-9 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
Mutations |
T7 |
13-18 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20109 |
denotes |
TOP3A |
T14 |
13-18 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26594 |
denotes |
TOP3A |
T20 |
13-18 |
http://purl.obolibrary.org/obo/PR_000016546 |
denotes |
TOP3A |
T26 |
27-41 |
http://purl.bioontology.org/ontology/NDFRT/N0000000579 |
denotes |
Bloom Syndrome |
T29 |
27-41 |
http://purl.bioontology.org/ontology/MESH/D001816 |
denotes |
Bloom Syndrome |
T32 |
27-41 |
http://purl.bioontology.org/ontology/OMIM/210900 |
denotes |
Bloom Syndrome |
T37 |
27-41 |
http://purl.bioontology.org/ontology/SNOMEDCT/4434006 |
denotes |
Bloom Syndrome |
T40 |
27-41 |
http://purl.bioontology.org/ontology/MEDDRA/10073032 |
denotes |
Bloom Syndrome |
T43 |
27-41 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2903 |
denotes |
Bloom Syndrome |
T46 |
33-41 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
Syndrome |
T49 |
33-41 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
Syndrome |
T52 |
47-55 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
Disorder |
T53 |
47-55 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
Disorder |