| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T2 |
1153-1170 |
http://purl.bioontology.org/ontology/OMIM/MTHU051546 |
denotes |
de novo mutations |
| T4 |
1153-1160 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
| T6 |
403-412 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T7 |
975-984 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T8 |
986-994 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
Mutation |
| T9 |
1161-1170 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T10 |
1240-1249 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T11 |
1489-1498 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T13 |
416-427 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B gene |
| T14 |
416-422 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T15 |
692-698 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T16 |
968-974 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T17 |
1008-1014 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T18 |
1253-1259 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T19 |
1397-1403 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T21 |
416-422 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T22 |
692-698 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T23 |
968-974 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T24 |
1008-1014 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T25 |
1253-1259 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T26 |
1397-1403 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T28 |
416-422 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T29 |
692-698 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T30 |
968-974 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T31 |
1008-1014 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T32 |
1253-1259 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T33 |
1397-1403 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T35 |
1264-1279 |
http://purl.bioontology.org/ontology/SNOMEDCT/47429007 |
denotes |
associated with |
| T36 |
1408-1423 |
http://purl.bioontology.org/ontology/SNOMEDCT/47429007 |
denotes |
associated with |
| T38 |
1264-1274 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25281 |
denotes |
associated |
| T39 |
1408-1418 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25281 |
denotes |
associated |
| T41 |
470-474 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594 |
denotes |
non- |
| T42 |
1070-1074 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594 |
denotes |
non- |
| T43 |
1424-1428 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594 |
denotes |
non- |
| T45 |
257-270 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T46 |
432-445 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T47 |
677-690 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T48 |
887-900 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T49 |
1084-1097 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T50 |
1290-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T51 |
1438-1451 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T52 |
1529-1542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T53 |
1585-1598 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T55 |
257-270 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T56 |
432-445 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T57 |
677-690 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T58 |
887-900 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T59 |
1084-1097 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T60 |
1290-1303 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T61 |
1438-1451 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T62 |
1529-1542 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T63 |
1585-1598 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T65 |
257-270 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T66 |
432-445 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T67 |
677-690 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T68 |
887-900 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T69 |
1084-1097 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T70 |
1290-1303 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T71 |
1438-1451 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T72 |
1529-1542 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T73 |
1585-1598 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T75 |
257-270 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T76 |
432-445 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T77 |
677-690 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T78 |
887-900 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T79 |
1084-1097 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T80 |
1290-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T81 |
1438-1451 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T82 |
1529-1542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T83 |
1585-1598 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T85 |
257-270 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T86 |
432-445 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T87 |
677-690 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T88 |
887-900 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T89 |
1084-1097 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T90 |
1290-1303 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T91 |
1438-1451 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T92 |
1529-1542 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T93 |
1585-1598 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T95 |
257-262 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T96 |
432-437 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T97 |
677-682 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T98 |
887-892 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T99 |
1084-1089 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T100 |
1290-1295 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T101 |
1438-1443 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T102 |
1529-1534 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T103 |
1585-1590 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T105 |
257-262 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T106 |
432-437 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T107 |
677-682 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T108 |
887-892 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T109 |
1084-1089 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T110 |
1290-1295 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T111 |
1438-1443 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T112 |
1529-1534 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T113 |
1585-1590 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T115 |
257-262 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T116 |
432-437 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T117 |
677-682 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T118 |
887-892 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T119 |
1084-1089 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T120 |
1290-1295 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T121 |
1438-1443 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T122 |
1529-1534 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T123 |
1585-1590 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T125 |
257-262 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T126 |
432-437 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T127 |
677-682 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T128 |
887-892 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T129 |
1084-1089 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T130 |
1290-1295 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T131 |
1438-1443 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T132 |
1529-1534 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T133 |
1585-1590 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T135 |
263-270 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T136 |
438-445 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T137 |
683-690 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T138 |
893-900 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T139 |
1090-1097 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T140 |
1296-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T141 |
1444-1451 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T142 |
1535-1542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T143 |
1591-1598 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |
| T144 |
102-112 |
http://purl.obolibrary.org/obo/IAO_0000316 |
denotes |
Background |
| T145 |
102-112 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45782 |
denotes |
Background |
| T146 |
113-118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14225 |
denotes |
Human |
| T147 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T148 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T149 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T150 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T151 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T152 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T153 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T154 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T155 |
113-118 |
http://purl.bioontology.org/ontology/STY/T016 |
denotes |
Human |
| T156 |
113-118 |
http://purl.obolibrary.org/obo/NCBITaxon_9606 |
denotes |
Human |
| T157 |
113-118 |
http://purl.obolibrary.org/obo/NCBITaxon_9606 |
denotes |
Human |
| T158 |
119-125 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25347 |
denotes |
height |
| T159 |
119-125 |
http://purl.bioontology.org/ontology/OMIM/MTHU000047 |
denotes |
height |
| T160 |
126-130 |
http://purl.bioontology.org/ontology/SNOMEDCT/116680003 |
denotes |
is a |
| T161 |
901-905 |
http://purl.bioontology.org/ontology/SNOMEDCT/116680003 |
denotes |
is a |
| T162 |
131-138 |
http://purl.bioontology.org/ontology/SNOMEDCT/103360007 |
denotes |
complex |
| T163 |
131-138 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19398 |
denotes |
complex |
| T164 |
131-138 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47881 |
denotes |
complex |
| T165 |
131-138 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157677 |
denotes |
complex |
| T166 |
131-138 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134028 |
denotes |
complex |
| T167 |
139-144 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85496 |
denotes |
trait |
| T168 |
152-158 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62223 |
denotes |
strong |
| T169 |
152-158 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14614 |
denotes |
strong |
| T170 |
152-158 |
http://purl.bioontology.org/ontology/SNOMEDCT/260404005 |
denotes |
strong |
| T171 |
159-166 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15238 |
denotes |
genetic |
| T172 |
159-166 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17938 |
denotes |
genetic |
| T173 |
167-172 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25430 |
denotes |
basis |
| T174 |
499-504 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25430 |
denotes |
Based |
| T175 |
843-848 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25430 |
denotes |
based |
| T176 |
167-172 |
http://purl.bioontology.org/ontology/NDFRT/N0000021972 |
denotes |
basis |
| T177 |
198-209 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73471 |
denotes |
association |
| T178 |
383-394 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73471 |
denotes |
association |
| T179 |
198-209 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45672 |
denotes |
association |
| T180 |
383-394 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45672 |
denotes |
association |
| T181 |
198-209 |
http://purl.bioontology.org/ontology/MESH/D001244 |
denotes |
association |
| T182 |
383-394 |
http://purl.bioontology.org/ontology/MESH/D001244 |
denotes |
association |
| T183 |
198-209 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25648 |
denotes |
association |
| T184 |
383-394 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25648 |
denotes |
association |
| T185 |
198-209 |
http://purl.bioontology.org/ontology/SNOMEDCT/263534001 |
denotes |
association |
| T186 |
383-394 |
http://purl.bioontology.org/ontology/SNOMEDCT/263534001 |
denotes |
association |
| T187 |
198-209 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43646 |
denotes |
association |
| T188 |
383-394 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43646 |
denotes |
association |
| T189 |
218-222 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T190 |
321-325 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T191 |
1371-1375 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T192 |
218-222 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T193 |
321-325 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T194 |
1371-1375 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T195 |
218-222 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T196 |
321-325 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T197 |
1371-1375 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T198 |
223-234 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49142 |
denotes |
copy number |
| T199 |
223-227 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67336 |
denotes |
copy |
| T200 |
228-234 |
http://purl.bioontology.org/ontology/SNOMEDCT/410680006 |
denotes |
number |
| T201 |
228-234 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25337 |
denotes |
number |
| T202 |
228-234 |
http://purl.bioontology.org/ontology/SNOMEDCT/260299005 |
denotes |
number |
| T203 |
228-234 |
http://purl.bioontology.org/ontology/SNOMEDCT/410681005 |
denotes |
number |
| T204 |
280-290 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
| T205 |
611-621 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
| T206 |
280-290 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
| T207 |
611-621 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
| T208 |
296-311 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19389 |
denotes |
candidate genes |
| T209 |
296-305 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138079 |
denotes |
candidate |
| T210 |
306-311 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
| T211 |
423-427 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T212 |
709-713 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T213 |
753-757 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T214 |
1502-1507 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
| T215 |
306-311 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
| T216 |
1502-1507 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
| T217 |
356-361 |
http://purl.obolibrary.org/obo/OBI_0000073 |
denotes |
study |
| T218 |
523-528 |
http://purl.obolibrary.org/obo/OBI_0000073 |
denotes |
study |
| T219 |
1458-1463 |
http://purl.obolibrary.org/obo/OBI_0000073 |
denotes |
study |
| T220 |
356-361 |
http://purl.bioontology.org/ontology/SNOMEDCT/224699009 |
denotes |
study |
| T221 |
523-528 |
http://purl.bioontology.org/ontology/SNOMEDCT/224699009 |
denotes |
study |
| T222 |
1458-1463 |
http://purl.bioontology.org/ontology/SNOMEDCT/224699009 |
denotes |
study |
| T223 |
356-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319 |
denotes |
study |
| T224 |
523-528 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319 |
denotes |
study |
| T225 |
1458-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319 |
denotes |
study |
| T226 |
356-361 |
http://purl.obolibrary.org/obo/OBI_0000066 |
denotes |
study |
| T227 |
523-528 |
http://purl.obolibrary.org/obo/OBI_0000066 |
denotes |
study |
| T228 |
1458-1463 |
http://purl.obolibrary.org/obo/OBI_0000066 |
denotes |
study |
| T229 |
356-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537 |
denotes |
study |
| T230 |
523-528 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537 |
denotes |
study |
| T231 |
1458-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537 |
denotes |
study |
| T232 |
356-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206 |
denotes |
study |
| T233 |
523-528 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206 |
denotes |
study |
| T234 |
1458-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206 |
denotes |
study |
| T235 |
356-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536 |
denotes |
study |
| T236 |
523-528 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536 |
denotes |
study |
| T237 |
1458-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536 |
denotes |
study |
| T238 |
362-366 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102111 |
denotes |
aims |
| T239 |
362-366 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C60761 |
denotes |
aims |
| T240 |
370-378 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25214 |
denotes |
evaluate |
| T241 |
423-427 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T242 |
709-713 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T243 |
753-757 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T244 |
423-427 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T245 |
709-713 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T246 |
753-757 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T247 |
423-427 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T248 |
709-713 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T249 |
753-757 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T250 |
423-427 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T251 |
709-713 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T252 |
753-757 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T253 |
484-488 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25513 |
denotes |
form |
| T254 |
484-488 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19464 |
denotes |
form |
| T255 |
484-488 |
http://purl.bioontology.org/ontology/SNOMEDCT/246176004 |
denotes |
form |
| T256 |
499-504 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
Based |
| T257 |
843-848 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
based |
| T258 |
510-528 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15197 |
denotes |
case-control study |
| T259 |
510-514 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
| T260 |
510-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
| T261 |
510-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
| T262 |
510-514 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
| T263 |
510-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
| T264 |
510-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
| T265 |
515-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142703 |
denotes |
control |
| T266 |
515-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28143 |
denotes |
control |
| T267 |
515-522 |
http://purl.bioontology.org/ontology/SNOMEDCT/246106000 |
denotes |
control |
| T268 |
515-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99270 |
denotes |
control |
| T269 |
515-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61299 |
denotes |
control |
| T270 |
515-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64355 |
denotes |
control |
| T271 |
538-544 |
http://purl.bioontology.org/ontology/SNOMEDCT/18470003 |
denotes |
genome |
| T272 |
538-544 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genome |
| T273 |
538-544 |
http://purl.org/sig/ont/fma/fma84116 |
denotes |
genome |
| T274 |
538-544 |
http://purl.bioontology.org/ontology/MESH/D016678 |
denotes |
genome |
| T275 |
545-555 |
http://purl.bioontology.org/ontology/MESH/D002875 |
denotes |
chromosome |
| T276 |
545-555 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13202 |
denotes |
chromosome |
| T277 |
545-555 |
http://purl.bioontology.org/ontology/SNOMEDCT/91272006 |
denotes |
chromosome |
| T278 |
545-555 |
http://purl.org/sig/ont/fma/fma67093 |
denotes |
chromosome |
| T279 |
545-555 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
| T280 |
545-555 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
| T281 |
556-575 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18477 |
denotes |
microarray analysis |
| T282 |
556-575 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62654 |
denotes |
microarray analysis |
| T283 |
556-575 |
http://purl.bioontology.org/ontology/MESH/D046228 |
denotes |
microarray analysis |
| T284 |
556-566 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44282 |
denotes |
microarray |
| T285 |
556-566 |
http://purl.obolibrary.org/obo/OBI_0400147 |
denotes |
microarray |
| T286 |
567-575 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T287 |
834-842 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T288 |
567-575 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T289 |
834-842 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T290 |
567-575 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T291 |
834-842 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T292 |
577-580 |
http://purl.obolibrary.org/obo/GO_0061684 |
denotes |
CMA |
| T293 |
577-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C365 |
denotes |
CMA |
| T294 |
577-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71309 |
denotes |
CMA |
| T295 |
583-588 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
| T296 |
777-782 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
| T297 |
583-588 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
| T298 |
777-782 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
| T299 |
589-600 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54669 |
denotes |
overlapping |
| T300 |
625-633 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T301 |
954-962 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T302 |
1098-1106 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T303 |
625-633 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T304 |
954-962 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T305 |
1098-1106 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T306 |
639-652 |
http://purl.bioontology.org/ontology/SNOMEDCT/278923009 |
denotes |
developmental |
| T307 |
639-652 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17770 |
denotes |
developmental |
| T308 |
653-662 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T309 |
731-739 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T310 |
945-953 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T311 |
1327-1335 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T312 |
731-739 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T313 |
945-953 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T314 |
1327-1335 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T315 |
801-814 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53312 |
denotes |
retrospective |
| T316 |
801-814 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142673 |
denotes |
retrospective |
| T317 |
801-814 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28010 |
denotes |
retrospective |
| T318 |
815-823 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
genotype |
| T319 |
815-823 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
genotype |
| T320 |
815-823 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
genotype |
| T321 |
815-823 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
genotype |
| T322 |
824-833 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
| T323 |
824-833 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
| T324 |
824-833 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
| T325 |
824-833 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
| T326 |
854-864 |
http://purl.bioontology.org/ontology/MESH/D008091 |
denotes |
literature |
| T327 |
854-864 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48471 |
denotes |
literature |
| T328 |
865-871 |
http://purl.bioontology.org/ontology/MESH/D016454 |
denotes |
review |
| T329 |
865-871 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42729 |
denotes |
review |
| T330 |
872-881 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25458 |
denotes |
confirmed |
| T331 |
906-914 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64649 |
denotes |
frequent |
| T332 |
906-914 |
http://purl.bioontology.org/ontology/SNOMEDCT/70232002 |
denotes |
frequent |
| T333 |
915-922 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13379 |
denotes |
feature |
| T334 |
915-922 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
feature |
| T335 |
915-922 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70838 |
denotes |
feature |
| T336 |
915-922 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73619 |
denotes |
feature |
| T337 |
915-922 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44283 |
denotes |
feature |
| T338 |
932-953 |
http://purl.bioontology.org/ontology/SNOMEDCT/10007009 |
denotes |
Coffin-Siris syndrome |
| T339 |
1314-1335 |
http://purl.bioontology.org/ontology/SNOMEDCT/10007009 |
denotes |
Coffin-Siris syndrome |
| T340 |
932-953 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35321 |
denotes |
Coffin-Siris syndrome |
| T341 |
1314-1335 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35321 |
denotes |
Coffin-Siris syndrome |
| T342 |
932-953 |
http://purl.bioontology.org/ontology/MESH/C536436 |
denotes |
Coffin-Siris syndrome |
| T343 |
1314-1335 |
http://purl.bioontology.org/ontology/MESH/C536436 |
denotes |
Coffin-Siris syndrome |
| T344 |
986-994 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
Mutation |
| T345 |
986-994 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
Mutation |
| T346 |
995-1004 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48261 |
denotes |
screening |
| T347 |
995-1004 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15419 |
denotes |
screening |
| T348 |
995-1004 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48262 |
denotes |
screening |
| T349 |
995-1004 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71485 |
denotes |
screening |
| T350 |
1015-1021 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120363 |
denotes |
coding |
| T351 |
1015-1021 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120360 |
denotes |
coding |
| T352 |
1015-1021 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80216 |
denotes |
coding |
| T353 |
1015-1021 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45971 |
denotes |
coding |
| T354 |
1057-1063 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61512 |
denotes |
cohort |
| T355 |
1057-1063 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15208 |
denotes |
cohort |
| T356 |
1115-1120 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T357 |
1139-1148 |
http://purl.bioontology.org/ontology/SNOMEDCT/55919000 |
denotes |
including |
| T358 |
1304-1313 |
http://purl.bioontology.org/ontology/SNOMEDCT/55919000 |
denotes |
including |
| T359 |
1184-1194 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54033 |
denotes |
Conclusion |
| T360 |
1184-1194 |
http://purl.obolibrary.org/obo/IAO_0000035 |
denotes |
Conclusion |
| T361 |
1340-1363 |
http://purl.bioontology.org/ontology/OMIM/MTHU035437 |
denotes |
intellectual disability |
| T362 |
1340-1363 |
http://purl.bioontology.org/ontology/MEDDRA/10067989 |
denotes |
intellectual disability |
| T363 |
1340-1363 |
http://purl.bioontology.org/ontology/MESH/D008607 |
denotes |
intellectual disability |
| T364 |
1340-1363 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97250 |
denotes |
intellectual disability |
| T365 |
1353-1363 |
http://purl.bioontology.org/ontology/MEDDRA/10013050 |
denotes |
disability |
| T366 |
1353-1363 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21007 |
denotes |
disability |
| T367 |
1353-1363 |
http://purl.bioontology.org/ontology/SNOMEDCT/21134002 |
denotes |
disability |
| T368 |
1571-1581 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61412 |
denotes |
contribute |
| T369 |
1606-1624 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18241 |
denotes |
general population |
| T370 |
1606-1613 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C115727 |
denotes |
general |
| T371 |
1606-1613 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63764 |
denotes |
general |
| T372 |
1614-1624 |
http://purl.bioontology.org/ontology/SNOMEDCT/385436007 |
denotes |
population |
| T373 |
1614-1624 |
http://purl.obolibrary.org/obo/OBI_0000181 |
denotes |
population |
| T374 |
1614-1624 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17005 |
denotes |
population |
| T375 |
1614-1624 |
http://purl.bioontology.org/ontology/MESH/D011153 |
denotes |
population |
| T376 |
1627-1637 |
http://purl.bioontology.org/ontology/SNOMEDCT/258097001 |
denotes |
Electronic |
| T377 |
1627-1637 |
http://purl.bioontology.org/ontology/MESH/D004581 |
denotes |
Electronic |
| T378 |
1652-1660 |
http://purl.bioontology.org/ontology/SNOMEDCT/276731003 |
denotes |
material |
| T379 |
1751-1759 |
http://purl.bioontology.org/ontology/SNOMEDCT/276731003 |
denotes |
material |
| T380 |
1652-1660 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48187 |
denotes |
material |
| T381 |
1751-1759 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48187 |
denotes |
material |
| T382 |
1652-1660 |
http://purl.bioontology.org/ontology/SNOMEDCT/260769002 |
denotes |
material |
| T383 |
1751-1759 |
http://purl.bioontology.org/ontology/SNOMEDCT/260769002 |
denotes |
material |
| T384 |
1672-1679 |
http://purl.bioontology.org/ontology/SNOMEDCT/22303008 |
denotes |
version |
| T385 |
1672-1679 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25714 |
denotes |
version |
| T386 |
1688-1695 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47902 |
denotes |
article |
| T387 |
1697-1700 |
http://purl.obolibrary.org/obo/OBI_0002110 |
denotes |
doi |
| T388 |
1697-1700 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C153902 |
denotes |
doi |
| T389 |
1697-1700 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71462 |
denotes |
doi |
| T390 |
1783-1793 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41192 |
denotes |
authorized |
| T391 |
1794-1799 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42745 |
denotes |
users |
| T1 |
0-17 |
http://purl.bioontology.org/ontology/OMIM/MTHU051546 |
denotes |
De novo mutations |
| T3 |
0-7 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
De novo |
| T5 |
8-17 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T12 |
21-27 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520 |
denotes |
ARID1B |
| T20 |
21-27 |
http://purl.obolibrary.org/obo/PR_000004263 |
denotes |
ARID1B |
| T27 |
21-27 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522 |
denotes |
ARID1B |
| T34 |
28-43 |
http://purl.bioontology.org/ontology/SNOMEDCT/47429007 |
denotes |
associated with |
| T37 |
28-38 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25281 |
denotes |
associated |
| T40 |
63-67 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594 |
denotes |
non- |
| T44 |
77-90 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686 |
denotes |
short stature |
| T54 |
77-90 |
http://purl.obolibrary.org/obo/SYMP_0000568 |
denotes |
short stature |
| T64 |
77-90 |
http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
denotes |
short stature |
| T74 |
77-90 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745 |
denotes |
short stature |
| T84 |
77-90 |
http://purl.bioontology.org/ontology/MEDDRA/10040600 |
denotes |
short stature |
| T94 |
77-82 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939 |
denotes |
short |
| T104 |
77-82 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249 |
denotes |
short |
| T114 |
77-82 |
http://purl.bioontology.org/ontology/OMIM/MTHU003639 |
denotes |
short |
| T124 |
77-82 |
http://purl.bioontology.org/ontology/SNOMEDCT/367450005 |
denotes |
short |
| T134 |
83-90 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488 |
denotes |
stature |