| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T2 |
662-679 |
http://purl.bioontology.org/ontology/OMIM/MTHU051546 |
denotes |
de novo mutations |
| T4 |
662-669 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
| T7 |
484-493 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T8 |
495-503 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
Mutation |
| T9 |
670-679 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T15 |
201-207 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T16 |
477-483 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T17 |
517-523 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T22 |
201-207 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T23 |
477-483 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T24 |
517-523 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T29 |
201-207 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T30 |
477-483 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T31 |
517-523 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T42 |
579-583 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594 |
denotes |
non- |
| T47 |
186-199 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T48 |
396-409 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T49 |
593-606 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T57 |
186-199 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T58 |
396-409 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T59 |
593-606 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T67 |
186-199 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T68 |
396-409 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T69 |
593-606 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T77 |
186-199 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T78 |
396-409 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T79 |
593-606 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T87 |
186-199 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T88 |
396-409 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T89 |
593-606 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T97 |
186-191 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T98 |
396-401 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T99 |
593-598 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T107 |
186-191 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T108 |
396-401 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T109 |
593-598 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T117 |
186-191 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T118 |
396-401 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T119 |
593-598 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T127 |
186-191 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T128 |
396-401 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T129 |
593-598 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T137 |
192-199 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T138 |
402-409 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T139 |
599-606 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T161 |
410-414 |
http://purl.bioontology.org/ontology/SNOMEDCT/116680003 |
denotes |
is a |
| T174 |
8-13 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25430 |
denotes |
Based |
| T175 |
352-357 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25430 |
denotes |
based |
| T205 |
120-130 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
| T207 |
120-130 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
| T212 |
218-222 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T213 |
262-266 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T218 |
32-37 |
http://purl.obolibrary.org/obo/OBI_0000073 |
denotes |
study |
| T221 |
32-37 |
http://purl.bioontology.org/ontology/SNOMEDCT/224699009 |
denotes |
study |
| T224 |
32-37 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319 |
denotes |
study |
| T227 |
32-37 |
http://purl.obolibrary.org/obo/OBI_0000066 |
denotes |
study |
| T230 |
32-37 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537 |
denotes |
study |
| T233 |
32-37 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206 |
denotes |
study |
| T236 |
32-37 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536 |
denotes |
study |
| T242 |
218-222 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T243 |
262-266 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T245 |
218-222 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T246 |
262-266 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T248 |
218-222 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T249 |
262-266 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T251 |
218-222 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T252 |
262-266 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T256 |
8-13 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
Based |
| T257 |
352-357 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
based |
| T258 |
19-37 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15197 |
denotes |
case-control study |
| T259 |
19-23 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
| T260 |
19-23 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
| T261 |
19-23 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
| T262 |
19-23 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
| T263 |
19-23 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
| T264 |
19-23 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
| T265 |
24-31 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142703 |
denotes |
control |
| T266 |
24-31 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28143 |
denotes |
control |
| T267 |
24-31 |
http://purl.bioontology.org/ontology/SNOMEDCT/246106000 |
denotes |
control |
| T268 |
24-31 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99270 |
denotes |
control |
| T269 |
24-31 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61299 |
denotes |
control |
| T270 |
24-31 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64355 |
denotes |
control |
| T271 |
47-53 |
http://purl.bioontology.org/ontology/SNOMEDCT/18470003 |
denotes |
genome |
| T272 |
47-53 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genome |
| T273 |
47-53 |
http://purl.org/sig/ont/fma/fma84116 |
denotes |
genome |
| T274 |
47-53 |
http://purl.bioontology.org/ontology/MESH/D016678 |
denotes |
genome |
| T275 |
54-64 |
http://purl.bioontology.org/ontology/MESH/D002875 |
denotes |
chromosome |
| T276 |
54-64 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13202 |
denotes |
chromosome |
| T277 |
54-64 |
http://purl.bioontology.org/ontology/SNOMEDCT/91272006 |
denotes |
chromosome |
| T278 |
54-64 |
http://purl.org/sig/ont/fma/fma67093 |
denotes |
chromosome |
| T279 |
54-64 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
| T280 |
54-64 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
| T281 |
65-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18477 |
denotes |
microarray analysis |
| T282 |
65-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62654 |
denotes |
microarray analysis |
| T283 |
65-84 |
http://purl.bioontology.org/ontology/MESH/D046228 |
denotes |
microarray analysis |
| T284 |
65-75 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44282 |
denotes |
microarray |
| T285 |
65-75 |
http://purl.obolibrary.org/obo/OBI_0400147 |
denotes |
microarray |
| T286 |
76-84 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T287 |
343-351 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T288 |
76-84 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T289 |
343-351 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T290 |
76-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T291 |
343-351 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T292 |
86-89 |
http://purl.obolibrary.org/obo/GO_0061684 |
denotes |
CMA |
| T293 |
86-89 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C365 |
denotes |
CMA |
| T294 |
86-89 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71309 |
denotes |
CMA |
| T295 |
92-97 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
| T296 |
286-291 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
| T297 |
92-97 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
| T298 |
286-291 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
| T299 |
98-109 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54669 |
denotes |
overlapping |
| T300 |
134-142 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T301 |
463-471 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T302 |
607-615 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T303 |
134-142 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T304 |
463-471 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T305 |
607-615 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T306 |
148-161 |
http://purl.bioontology.org/ontology/SNOMEDCT/278923009 |
denotes |
developmental |
| T307 |
148-161 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17770 |
denotes |
developmental |
| T308 |
162-171 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T309 |
240-248 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T310 |
454-462 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T312 |
240-248 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T313 |
454-462 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T315 |
310-323 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53312 |
denotes |
retrospective |
| T316 |
310-323 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142673 |
denotes |
retrospective |
| T317 |
310-323 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28010 |
denotes |
retrospective |
| T318 |
324-332 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
genotype |
| T319 |
324-332 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
genotype |
| T320 |
324-332 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
genotype |
| T321 |
324-332 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
genotype |
| T322 |
333-342 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
| T323 |
333-342 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
| T324 |
333-342 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
| T325 |
333-342 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
| T326 |
363-373 |
http://purl.bioontology.org/ontology/MESH/D008091 |
denotes |
literature |
| T327 |
363-373 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48471 |
denotes |
literature |
| T328 |
374-380 |
http://purl.bioontology.org/ontology/MESH/D016454 |
denotes |
review |
| T329 |
374-380 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42729 |
denotes |
review |
| T330 |
381-390 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25458 |
denotes |
confirmed |
| T331 |
415-423 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64649 |
denotes |
frequent |
| T332 |
415-423 |
http://purl.bioontology.org/ontology/SNOMEDCT/70232002 |
denotes |
frequent |
| T333 |
424-431 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13379 |
denotes |
feature |
| T334 |
424-431 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
feature |
| T335 |
424-431 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70838 |
denotes |
feature |
| T336 |
424-431 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73619 |
denotes |
feature |
| T337 |
424-431 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44283 |
denotes |
feature |
| T338 |
441-462 |
http://purl.bioontology.org/ontology/SNOMEDCT/10007009 |
denotes |
Coffin-Siris syndrome |
| T340 |
441-462 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35321 |
denotes |
Coffin-Siris syndrome |
| T342 |
441-462 |
http://purl.bioontology.org/ontology/MESH/C536436 |
denotes |
Coffin-Siris syndrome |
| T344 |
495-503 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
Mutation |
| T345 |
495-503 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
Mutation |
| T346 |
504-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48261 |
denotes |
screening |
| T347 |
504-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15419 |
denotes |
screening |
| T348 |
504-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48262 |
denotes |
screening |
| T349 |
504-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71485 |
denotes |
screening |
| T350 |
524-530 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120363 |
denotes |
coding |
| T351 |
524-530 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120360 |
denotes |
coding |
| T352 |
524-530 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80216 |
denotes |
coding |
| T353 |
524-530 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45971 |
denotes |
coding |
| T354 |
566-572 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61512 |
denotes |
cohort |
| T355 |
566-572 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15208 |
denotes |
cohort |
| T356 |
624-629 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T357 |
648-657 |
http://purl.bioontology.org/ontology/SNOMEDCT/55919000 |
denotes |
including |
