Id |
Subject |
Object |
Predicate |
Lexical cue |
T86 |
0-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101293 |
denotes |
Next-generation sequencing |
T87 |
5-15 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88214 |
denotes |
generation |
T88 |
5-15 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48151 |
denotes |
generation |
T89 |
16-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
T91 |
16-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
T93 |
16-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
T95 |
27-31 |
http://purl.bioontology.org/ontology/SNOMEDCT/116680003 |
denotes |
is a |
T96 |
41-45 |
http://purl.bioontology.org/ontology/SNOMEDCT/86967005 |
denotes |
tool |
T97 |
41-45 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84337 |
denotes |
tool |
T98 |
54-63 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62262 |
denotes |
discovery |
T99 |
67-72 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
T100 |
67-72 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
T76 |
84-112 |
http://purl.bioontology.org/ontology/MESH/D065886 |
denotes |
neurodevelopmental disorders |
T83 |
103-112 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
T101 |
130-136 |
http://purl.bioontology.org/ontology/SNOMEDCT/229059009 |
denotes |
report |
T102 |
130-136 |
http://purl.obolibrary.org/obo/IAO_0000088 |
denotes |
report |
T103 |
130-136 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
report |
T104 |
130-136 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97107 |
denotes |
report |
T105 |
141-155 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T108 |
141-155 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T111 |
141-155 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T114 |
170-178 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T115 |
170-178 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T116 |
179-185 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89272 |
denotes |
due to |
T117 |
179-185 |
http://purl.bioontology.org/ontology/SNOMEDCT/42752001 |
denotes |
due to |
T2 |
186-193 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
T4 |
197-206 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28018 |
denotes |
inherited |
T118 |
207-219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45825 |
denotes |
heterozygous |
T119 |
220-229 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T27 |
233-254 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
Tousled-like kinase 2 |
T122 |
233-254 |
http://purl.obolibrary.org/obo/PR_O55047 |
denotes |
Tousled-like kinase 2 |
T123 |
233-254 |
http://purl.bioontology.org/ontology/OMIM/608439 |
denotes |
Tousled-like kinase 2 |
T124 |
233-254 |
http://purl.obolibrary.org/obo/PR_Q1ECX4 |
denotes |
Tousled-like kinase 2 |
T125 |
246-252 |
http://purl.bioontology.org/ontology/SNOMEDCT/736215007 |
denotes |
kinase |
T126 |
246-252 |
http://purl.bioontology.org/ontology/SNOMEDCT/304257007 |
denotes |
kinase |
T127 |
246-252 |
http://purl.bioontology.org/ontology/NDFRT/N0000168200 |
denotes |
kinase |
T128 |
246-252 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28597 |
denotes |
kinase |
T129 |
246-252 |
http://purl.bioontology.org/ontology/MESH/D010770 |
denotes |
kinase |
T28 |
256-260 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |
T130 |
268-277 |
http://purl.bioontology.org/ontology/SNOMEDCT/262241003 |
denotes |
unrelated |
T131 |
268-277 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53256 |
denotes |
unrelated |
T132 |
268-277 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25328 |
denotes |
unrelated |
T133 |
307-314 |
http://purl.bioontology.org/ontology/MESH/D009035 |
denotes |
mothers |
T134 |
328-333 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
T135 |
328-333 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
T136 |
344-350 |
http://purl.bioontology.org/ontology/SNOMEDCT/18470003 |
denotes |
genome |
T137 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genome |
T138 |
344-350 |
http://purl.org/sig/ont/fma/fma84116 |
denotes |
genome |
T139 |
344-350 |
http://purl.bioontology.org/ontology/MESH/D016678 |
denotes |
genome |
T90 |
351-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
T92 |
351-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
T94 |
351-361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
T140 |
402-415 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25541 |
denotes |
international |
T142 |
459-469 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T52 |
470-479 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T57 |
470-479 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T62 |
470-479 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T69 |
470-479 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T144 |
481-494 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterized |
T145 |
498-502 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41338 |
denotes |
mild |
T146 |
498-502 |
http://purl.bioontology.org/ontology/SNOMEDCT/255604002 |
denotes |
mild |
T147 |
498-502 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156242 |
denotes |
mild |
T148 |
498-502 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70666 |
denotes |
mild |
T149 |
503-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14157 |
denotes |
borderline |
T150 |
514-538 |
http://purl.bioontology.org/ontology/OMIM/MTHU058011 |
denotes |
neurodevelopmental delay |
T151 |
533-538 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25476 |
denotes |
delay |
T153 |
546-556 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16326 |
denotes |
behavioral |
T154 |
546-556 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95084 |
denotes |
behavioral |
T152 |
546-566 |
http://purl.bioontology.org/ontology/OMIM/MTHU025298 |
denotes |
behavioral disorders |
T84 |
557-566 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
T155 |
574-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
T156 |
574-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
T157 |
574-580 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
T158 |
574-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
T159 |
574-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
T160 |
574-580 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
T161 |
581-587 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C128681 |
denotes |
gastro |
T162 |
588-598 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25266 |
denotes |
intestinal |
T163 |
588-598 |
http://purl.bioontology.org/ontology/SNOMEDCT/261093006 |
denotes |
intestinal |
T166 |
619-625 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13071 |
denotes |
facial |
T164 |
619-637 |
http://purl.bioontology.org/ontology/MEDDRA/10016045 |
denotes |
facial dysmorphism |
T165 |
619-637 |
http://purl.bioontology.org/ontology/OMIM/MTHU004921 |
denotes |
facial dysmorphism |
T167 |
626-637 |
http://purl.bioontology.org/ontology/MEDDRA/10066054 |
denotes |
dysmorphism |
T168 |
626-637 |
http://purl.bioontology.org/ontology/SNOMEDCT/276720006 |
denotes |
dysmorphism |
T169 |
638-647 |
http://purl.bioontology.org/ontology/SNOMEDCT/55919000 |
denotes |
including |
T170 |
648-664 |
http://purl.bioontology.org/ontology/MESH/D016569 |
denotes |
blepharophimosis |
T171 |
648-664 |
http://purl.bioontology.org/ontology/OMIM/MTHU036361 |
denotes |
blepharophimosis |
T172 |
648-664 |
http://purl.bioontology.org/ontology/MEDDRA/10005155 |
denotes |
blepharophimosis |
T173 |
648-664 |
http://purl.bioontology.org/ontology/NDFRT/N0000003437 |
denotes |
blepharophimosis |
T174 |
672-683 |
http://purl.bioontology.org/ontology/OMIM/187350 |
denotes |
telecanthus |
T175 |
672-683 |
http://purl.bioontology.org/ontology/OMIM/MTHU003098 |
denotes |
telecanthus |
T176 |
672-683 |
http://purl.bioontology.org/ontology/MESH/C562941 |
denotes |
telecanthus |
T177 |
672-683 |
http://purl.bioontology.org/ontology/SNOMEDCT/246803005 |
denotes |
telecanthus |
T179 |
691-700 |
http://purl.bioontology.org/ontology/SNOMEDCT/4657009 |
denotes |
prominent |
T178 |
691-713 |
http://purl.bioontology.org/ontology/OMIM/MTHU002113 |
denotes |
prominent nasal bridge |
T181 |
701-706 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27958 |
denotes |
nasal |
T183 |
701-706 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38284 |
denotes |
nasal |
T185 |
701-706 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69064 |
denotes |
nasal |
T187 |
701-706 |
http://purl.bioontology.org/ontology/SNOMEDCT/738948007 |
denotes |
nasal |
T189 |
701-706 |
http://purl.bioontology.org/ontology/SNOMEDCT/260540009 |
denotes |
nasal |
T180 |
701-713 |
http://purl.org/sig/ont/fma/fma59517 |
denotes |
nasal bridge |
T193 |
721-726 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61485 |
denotes |
broad |
T191 |
721-736 |
http://purl.bioontology.org/ontology/OMIM/MTHU005671 |
denotes |
broad nasal tip |
T192 |
721-736 |
http://purl.bioontology.org/ontology/SNOMEDCT/249327002 |
denotes |
broad nasal tip |
T182 |
727-732 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27958 |
denotes |
nasal |
T184 |
727-732 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38284 |
denotes |
nasal |
T186 |
727-732 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69064 |
denotes |
nasal |
T188 |
727-732 |
http://purl.bioontology.org/ontology/SNOMEDCT/738948007 |
denotes |
nasal |
T190 |
727-732 |
http://purl.bioontology.org/ontology/SNOMEDCT/260540009 |
denotes |
nasal |
T194 |
727-736 |
http://purl.org/sig/ont/fma/fma59518 |
denotes |
nasal tip |
T197 |
744-748 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C65127 |
denotes |
thin |
T198 |
744-748 |
http://purl.bioontology.org/ontology/SNOMEDCT/18043004 |
denotes |
thin |
T199 |
744-748 |
http://purl.bioontology.org/ontology/OMIM/MTHU029005 |
denotes |
thin |
T196 |
744-758 |
http://purl.bioontology.org/ontology/OMIM/MTHU020600 |
denotes |
thin vermilion |
T195 |
744-775 |
http://purl.bioontology.org/ontology/OMIM/MTHU035794 |
denotes |
thin vermilion of the upper lip |
T200 |
749-758 |
http://purl.org/sig/ont/fma/fma59824 |
denotes |
vermilion |
T203 |
766-771 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25355 |
denotes |
upper |
T204 |
766-771 |
http://purl.bioontology.org/ontology/SNOMEDCT/261183002 |
denotes |
upper |
T201 |
766-775 |
http://purl.org/sig/ont/fma/fma59817 |
denotes |
upper lip |
T202 |
766-775 |
http://purl.bioontology.org/ontology/SNOMEDCT/11681001 |
denotes |
upper lip |
T205 |
772-775 |
http://purl.obolibrary.org/obo/PR_P21272 |
denotes |
lip |
T206 |
772-775 |
http://purl.obolibrary.org/obo/PR_000023092 |
denotes |
lip |
T207 |
772-775 |
http://purl.bioontology.org/ontology/OMIM/247610 |
denotes |
lip |
T208 |
772-775 |
http://purl.org/sig/ont/fma/fma59816 |
denotes |
lip |
T209 |
772-775 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12220 |
denotes |
lip |
T210 |
772-775 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23153 |
denotes |
lip |
T211 |
772-775 |
http://purl.bioontology.org/ontology/MESH/D008046 |
denotes |
lip |
T212 |
772-775 |
http://purl.obolibrary.org/obo/PR_000015283 |
denotes |
lip |
T213 |
772-775 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27558 |
denotes |
lip |
T214 |
772-775 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116679 |
denotes |
lip |
T215 |
787-816 |
http://purl.bioontology.org/ontology/OMIM/MTHU000264 |
denotes |
upslanting palpebral fissures |
T216 |
824-832 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
Analysis |
T218 |
824-832 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
Analysis |
T220 |
824-832 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
Analysis |
T223 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T224 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T225 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T226 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T227 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T228 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T229 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T230 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T231 |
836-840 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T232 |
836-840 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49867 |
denotes |
cell |
T233 |
836-840 |
http://purl.obolibrary.org/obo/GO_0005623 |
denotes |
cell |
T234 |
836-840 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12508 |
denotes |
cell |
T235 |
836-840 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23442 |
denotes |
cell |
T236 |
836-840 |
http://purl.org/sig/ont/fma/fma68646 |
denotes |
cell |
T237 |
836-840 |
http://purl.obolibrary.org/obo/CL_0000000 |
denotes |
cell |
T238 |
836-840 |
http://purl.obolibrary.org/obo/CL_0000000 |
denotes |
cell |
T239 |
836-840 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C60787 |
denotes |
cell |
T240 |
836-840 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48694 |
denotes |
cell |
T241 |
836-840 |
http://purl.bioontology.org/ontology/MESH/D002477 |
denotes |
cell |
T222 |
836-846 |
http://purl.bioontology.org/ontology/MESH/D002460 |
denotes |
cell lines |
T242 |
841-846 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13803 |
denotes |
lines |
T243 |
852-857 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
T244 |
852-857 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
T120 |
891-900 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T6 |
915-919 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T9 |
923-931 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T12 |
923-931 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T15 |
923-931 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T18 |
923-931 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T21 |
923-931 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T24 |
923-931 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T245 |
932-941 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50285 |
denotes |
mechanism |
T247 |
932-941 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25343 |
denotes |
mechanism |
T249 |
932-941 |
http://purl.bioontology.org/ontology/SNOMEDCT/278109006 |
denotes |
mechanism |
T251 |
958-962 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
T252 |
958-962 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
T253 |
958-962 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
T254 |
958-962 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
T255 |
958-962 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
T256 |
958-962 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
T40 |
973-981 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
Genotype |
T43 |
973-981 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
Genotype |
T46 |
973-981 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
Genotype |
T49 |
973-981 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
Genotype |
T53 |
982-991 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T58 |
982-991 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T63 |
982-991 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T70 |
982-991 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T217 |
992-1000 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
T219 |
992-1000 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
T221 |
992-1000 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
T257 |
1005-1015 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49156 |
denotes |
comparison |
T258 |
1043-1048 |
http://purl.bioontology.org/ontology/MESH/D005145 |
denotes |
faces |
T64 |
1061-1071 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotypes |
T7 |
1108-1112 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T10 |
1116-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T13 |
1116-1124 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T16 |
1116-1124 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T19 |
1116-1124 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T22 |
1116-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T25 |
1116-1124 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T65 |
1164-1174 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotypes |
T259 |
1201-1208 |
http://purl.bioontology.org/ontology/SNOMEDCT/40885006 |
denotes |
variant |
T260 |
1201-1208 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25713 |
denotes |
variant |
T261 |
1209-1214 |
http://purl.bioontology.org/ontology/SNOMEDCT/261664005 |
denotes |
types |
T262 |
1229-1239 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54121 |
denotes |
C-terminal |
T263 |
1231-1239 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50216 |
denotes |
terminal |
T264 |
1231-1239 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47940 |
denotes |
terminal |
T265 |
1272-1290 |
http://purl.bioontology.org/ontology/MESH/D057895 |
denotes |
haploinsufficiency |
T29 |
1294-1298 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |
T266 |
1318-1328 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154417 |
denotes |
underlying |
T81 |
1329-1336 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
disease |
T85 |
1329-1336 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disease |
T267 |
1329-1336 |
http://purl.obolibrary.org/obo/OGMS_0000031 |
denotes |
disease |
T268 |
1329-1336 |
http://purl.bioontology.org/ontology/NDFRT/N0000000981 |
denotes |
disease |
T269 |
1329-1336 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
disease |
T246 |
1337-1346 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50285 |
denotes |
mechanism |
T248 |
1337-1346 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25343 |
denotes |
mechanism |
T250 |
1337-1346 |
http://purl.bioontology.org/ontology/SNOMEDCT/278109006 |
denotes |
mechanism |
T270 |
1348-1355 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25629 |
denotes |
leading |
T143 |
1361-1371 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T54 |
1391-1400 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T59 |
1391-1400 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T66 |
1391-1400 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T71 |
1391-1400 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T271 |
1407-1411 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74299 |
denotes |
work |
T272 |
1407-1411 |
http://purl.bioontology.org/ontology/MESH/D014937 |
denotes |
work |
T141 |
1437-1450 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25541 |
denotes |
international |
T273 |
1456-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73624 |
denotes |
sharing |
T106 |
1472-1486 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T109 |
1472-1486 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T112 |
1472-1486 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T107 |
1570-1584 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T110 |
1570-1584 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T113 |
1570-1584 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T32 |
1586-1594 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
T34 |
1586-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
T36 |
1586-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
T38 |
1586-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
T274 |
1595-1606 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142157 |
denotes |
delineation |
T41 |
1612-1620 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
genotype |
T44 |
1612-1620 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
genotype |
T47 |
1612-1620 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
genotype |
T50 |
1612-1620 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
genotype |
T55 |
1621-1630 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T60 |
1621-1630 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T67 |
1621-1630 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T72 |
1621-1630 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T74 |
1631-1641 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25214 |
denotes |
evaluation |
T121 |
1670-1679 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T30 |
1683-1687 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |