Id |
Subject |
Object |
Predicate |
Lexical cue |
T2 |
339-346 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
T4 |
350-359 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28018 |
denotes |
inherited |
T6 |
1068-1072 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T7 |
1261-1265 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T9 |
1076-1084 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T10 |
1269-1277 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T12 |
1076-1084 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T13 |
1269-1277 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T15 |
1076-1084 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T16 |
1269-1277 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T18 |
1076-1084 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T19 |
1269-1277 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T21 |
1076-1084 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T22 |
1269-1277 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T24 |
1076-1084 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T25 |
1269-1277 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T27 |
386-407 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
Tousled-like kinase 2 |
T28 |
409-413 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |
T29 |
1447-1451 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |
T30 |
1836-1840 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |
T32 |
1739-1747 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
T34 |
1739-1747 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
T36 |
1739-1747 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
T38 |
1739-1747 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
T40 |
1126-1134 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
Genotype |
T41 |
1765-1773 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
genotype |
T43 |
1126-1134 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
Genotype |
T44 |
1765-1773 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
genotype |
T46 |
1126-1134 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
Genotype |
T47 |
1765-1773 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
genotype |
T49 |
1126-1134 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
Genotype |
T50 |
1765-1773 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
genotype |
T52 |
623-632 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T53 |
1135-1144 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T54 |
1544-1553 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T55 |
1774-1783 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
T57 |
623-632 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T58 |
1135-1144 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T59 |
1544-1553 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T60 |
1774-1783 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
T62 |
623-632 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T63 |
1135-1144 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T64 |
1214-1224 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotypes |
T65 |
1317-1327 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotypes |
T66 |
1544-1553 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T67 |
1774-1783 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
T69 |
623-632 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T70 |
1135-1144 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T71 |
1544-1553 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T72 |
1774-1783 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
T74 |
1784-1794 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25214 |
denotes |
evaluation |
T76 |
237-265 |
http://purl.bioontology.org/ontology/MESH/D065886 |
denotes |
neurodevelopmental disorders |
T81 |
1482-1489 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
disease |
T83 |
256-265 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
T84 |
710-719 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
T85 |
1482-1489 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disease |
T86 |
153-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101293 |
denotes |
Next-generation sequencing |
T87 |
158-168 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88214 |
denotes |
generation |
T88 |
158-168 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48151 |
denotes |
generation |
T89 |
169-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
T90 |
504-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
T91 |
169-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
T92 |
504-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
T93 |
169-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
T94 |
504-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
T95 |
180-184 |
http://purl.bioontology.org/ontology/SNOMEDCT/116680003 |
denotes |
is a |
T96 |
194-198 |
http://purl.bioontology.org/ontology/SNOMEDCT/86967005 |
denotes |
tool |
T97 |
194-198 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84337 |
denotes |
tool |
T98 |
207-216 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62262 |
denotes |
discovery |
T99 |
220-225 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
T100 |
220-225 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
T101 |
283-289 |
http://purl.bioontology.org/ontology/SNOMEDCT/229059009 |
denotes |
report |
T102 |
283-289 |
http://purl.obolibrary.org/obo/IAO_0000088 |
denotes |
report |
T103 |
283-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
report |
T104 |
283-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97107 |
denotes |
report |
T105 |
294-308 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T106 |
1625-1639 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T107 |
1723-1737 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T108 |
294-308 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T109 |
1625-1639 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T110 |
1723-1737 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T111 |
294-308 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T112 |
1625-1639 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T113 |
1723-1737 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T114 |
323-331 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T115 |
323-331 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T116 |
332-338 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89272 |
denotes |
due to |
T117 |
332-338 |
http://purl.bioontology.org/ontology/SNOMEDCT/42752001 |
denotes |
due to |
T118 |
360-372 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45825 |
denotes |
heterozygous |
T119 |
373-382 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T120 |
1044-1053 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T121 |
1823-1832 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T122 |
386-407 |
http://purl.obolibrary.org/obo/PR_O55047 |
denotes |
Tousled-like kinase 2 |
T123 |
386-407 |
http://purl.bioontology.org/ontology/OMIM/608439 |
denotes |
Tousled-like kinase 2 |
T124 |
386-407 |
http://purl.obolibrary.org/obo/PR_Q1ECX4 |
denotes |
Tousled-like kinase 2 |
T125 |
399-405 |
http://purl.bioontology.org/ontology/SNOMEDCT/736215007 |
denotes |
kinase |
T126 |
399-405 |
http://purl.bioontology.org/ontology/SNOMEDCT/304257007 |
denotes |
kinase |
T127 |
399-405 |
http://purl.bioontology.org/ontology/NDFRT/N0000168200 |
denotes |
kinase |
T128 |
399-405 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28597 |
denotes |
kinase |
T129 |
399-405 |
http://purl.bioontology.org/ontology/MESH/D010770 |
denotes |
kinase |
T130 |
421-430 |
http://purl.bioontology.org/ontology/SNOMEDCT/262241003 |
denotes |
unrelated |
T131 |
421-430 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53256 |
denotes |
unrelated |
T132 |
421-430 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25328 |
denotes |
unrelated |
T133 |
460-467 |
http://purl.bioontology.org/ontology/MESH/D009035 |
denotes |
mothers |
T134 |
481-486 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
T135 |
481-486 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
T136 |
497-503 |
http://purl.bioontology.org/ontology/SNOMEDCT/18470003 |
denotes |
genome |
T137 |
497-503 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genome |
T138 |
497-503 |
http://purl.org/sig/ont/fma/fma84116 |
denotes |
genome |
T139 |
497-503 |
http://purl.bioontology.org/ontology/MESH/D016678 |
denotes |
genome |
T140 |
555-568 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25541 |
denotes |
international |
T141 |
1590-1603 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25541 |
denotes |
international |
T142 |
612-622 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T143 |
1514-1524 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T144 |
634-647 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterized |
T145 |
651-655 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41338 |
denotes |
mild |
T146 |
651-655 |
http://purl.bioontology.org/ontology/SNOMEDCT/255604002 |
denotes |
mild |
T147 |
651-655 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156242 |
denotes |
mild |
T148 |
651-655 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70666 |
denotes |
mild |
T149 |
656-666 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14157 |
denotes |
borderline |
T150 |
667-691 |
http://purl.bioontology.org/ontology/OMIM/MTHU058011 |
denotes |
neurodevelopmental delay |
T151 |
686-691 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25476 |
denotes |
delay |
T152 |
699-719 |
http://purl.bioontology.org/ontology/OMIM/MTHU025298 |
denotes |
behavioral disorders |
T153 |
699-709 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16326 |
denotes |
behavioral |
T154 |
699-709 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95084 |
denotes |
behavioral |
T155 |
727-733 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
T156 |
727-733 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
T157 |
727-733 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
T158 |
727-733 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
T159 |
727-733 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
T160 |
727-733 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
T161 |
734-740 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C128681 |
denotes |
gastro |
T162 |
741-751 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25266 |
denotes |
intestinal |
T163 |
741-751 |
http://purl.bioontology.org/ontology/SNOMEDCT/261093006 |
denotes |
intestinal |
T164 |
772-790 |
http://purl.bioontology.org/ontology/MEDDRA/10016045 |
denotes |
facial dysmorphism |
T165 |
772-790 |
http://purl.bioontology.org/ontology/OMIM/MTHU004921 |
denotes |
facial dysmorphism |
T166 |
772-778 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13071 |
denotes |
facial |
T167 |
779-790 |
http://purl.bioontology.org/ontology/MEDDRA/10066054 |
denotes |
dysmorphism |
T168 |
779-790 |
http://purl.bioontology.org/ontology/SNOMEDCT/276720006 |
denotes |
dysmorphism |
T169 |
791-800 |
http://purl.bioontology.org/ontology/SNOMEDCT/55919000 |
denotes |
including |
T170 |
801-817 |
http://purl.bioontology.org/ontology/MESH/D016569 |
denotes |
blepharophimosis |
T171 |
801-817 |
http://purl.bioontology.org/ontology/OMIM/MTHU036361 |
denotes |
blepharophimosis |
T172 |
801-817 |
http://purl.bioontology.org/ontology/MEDDRA/10005155 |
denotes |
blepharophimosis |
T173 |
801-817 |
http://purl.bioontology.org/ontology/NDFRT/N0000003437 |
denotes |
blepharophimosis |
T174 |
825-836 |
http://purl.bioontology.org/ontology/OMIM/187350 |
denotes |
telecanthus |
T175 |
825-836 |
http://purl.bioontology.org/ontology/OMIM/MTHU003098 |
denotes |
telecanthus |
T176 |
825-836 |
http://purl.bioontology.org/ontology/MESH/C562941 |
denotes |
telecanthus |
T177 |
825-836 |
http://purl.bioontology.org/ontology/SNOMEDCT/246803005 |
denotes |
telecanthus |
T178 |
844-866 |
http://purl.bioontology.org/ontology/OMIM/MTHU002113 |
denotes |
prominent nasal bridge |
T179 |
844-853 |
http://purl.bioontology.org/ontology/SNOMEDCT/4657009 |
denotes |
prominent |
T180 |
854-866 |
http://purl.org/sig/ont/fma/fma59517 |
denotes |
nasal bridge |
T181 |
854-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27958 |
denotes |
nasal |
T182 |
880-885 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27958 |
denotes |
nasal |
T183 |
854-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38284 |
denotes |
nasal |
T184 |
880-885 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38284 |
denotes |
nasal |
T185 |
854-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69064 |
denotes |
nasal |
T186 |
880-885 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69064 |
denotes |
nasal |
T187 |
854-859 |
http://purl.bioontology.org/ontology/SNOMEDCT/738948007 |
denotes |
nasal |
T188 |
880-885 |
http://purl.bioontology.org/ontology/SNOMEDCT/738948007 |
denotes |
nasal |
T189 |
854-859 |
http://purl.bioontology.org/ontology/SNOMEDCT/260540009 |
denotes |
nasal |
T190 |
880-885 |
http://purl.bioontology.org/ontology/SNOMEDCT/260540009 |
denotes |
nasal |
T191 |
874-889 |
http://purl.bioontology.org/ontology/OMIM/MTHU005671 |
denotes |
broad nasal tip |
T192 |
874-889 |
http://purl.bioontology.org/ontology/SNOMEDCT/249327002 |
denotes |
broad nasal tip |
T193 |
874-879 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61485 |
denotes |
broad |
T194 |
880-889 |
http://purl.org/sig/ont/fma/fma59518 |
denotes |
nasal tip |
T195 |
897-928 |
http://purl.bioontology.org/ontology/OMIM/MTHU035794 |
denotes |
thin vermilion of the upper lip |
T196 |
897-911 |
http://purl.bioontology.org/ontology/OMIM/MTHU020600 |
denotes |
thin vermilion |
T197 |
897-901 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C65127 |
denotes |
thin |
T198 |
897-901 |
http://purl.bioontology.org/ontology/SNOMEDCT/18043004 |
denotes |
thin |
T199 |
897-901 |
http://purl.bioontology.org/ontology/OMIM/MTHU029005 |
denotes |
thin |
T200 |
902-911 |
http://purl.org/sig/ont/fma/fma59824 |
denotes |
vermilion |
T201 |
919-928 |
http://purl.org/sig/ont/fma/fma59817 |
denotes |
upper lip |
T202 |
919-928 |
http://purl.bioontology.org/ontology/SNOMEDCT/11681001 |
denotes |
upper lip |
T203 |
919-924 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25355 |
denotes |
upper |
T204 |
919-924 |
http://purl.bioontology.org/ontology/SNOMEDCT/261183002 |
denotes |
upper |
T205 |
925-928 |
http://purl.obolibrary.org/obo/PR_P21272 |
denotes |
lip |
T206 |
925-928 |
http://purl.obolibrary.org/obo/PR_000023092 |
denotes |
lip |
T207 |
925-928 |
http://purl.bioontology.org/ontology/OMIM/247610 |
denotes |
lip |
T208 |
925-928 |
http://purl.org/sig/ont/fma/fma59816 |
denotes |
lip |
T209 |
925-928 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12220 |
denotes |
lip |
T210 |
925-928 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23153 |
denotes |
lip |
T211 |
925-928 |
http://purl.bioontology.org/ontology/MESH/D008046 |
denotes |
lip |
T212 |
925-928 |
http://purl.obolibrary.org/obo/PR_000015283 |
denotes |
lip |
T213 |
925-928 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27558 |
denotes |
lip |
T214 |
925-928 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116679 |
denotes |
lip |
T215 |
940-969 |
http://purl.bioontology.org/ontology/OMIM/MTHU000264 |
denotes |
upslanting palpebral fissures |
T216 |
977-985 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
Analysis |
T217 |
1145-1153 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
T218 |
977-985 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
Analysis |
T219 |
1145-1153 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
T220 |
977-985 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
Analysis |
T221 |
1145-1153 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
T222 |
989-999 |
http://purl.bioontology.org/ontology/MESH/D002460 |
denotes |
cell lines |
T223 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T224 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T225 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T226 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T227 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T228 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T229 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T230 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T231 |
989-993 |
http://purl.bioontology.org/ontology/STY/T025 |
denotes |
cell |
T232 |
989-993 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49867 |
denotes |
cell |
T233 |
989-993 |
http://purl.obolibrary.org/obo/GO_0005623 |
denotes |
cell |
T234 |
989-993 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12508 |
denotes |
cell |
T235 |
989-993 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23442 |
denotes |
cell |
T236 |
989-993 |
http://purl.org/sig/ont/fma/fma68646 |
denotes |
cell |
T237 |
989-993 |
http://purl.obolibrary.org/obo/CL_0000000 |
denotes |
cell |
T238 |
989-993 |
http://purl.obolibrary.org/obo/CL_0000000 |
denotes |
cell |
T239 |
989-993 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C60787 |
denotes |
cell |
T240 |
989-993 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48694 |
denotes |
cell |
T241 |
989-993 |
http://purl.bioontology.org/ontology/MESH/D002477 |
denotes |
cell |
T242 |
994-999 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13803 |
denotes |
lines |
T243 |
1005-1010 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
T244 |
1005-1010 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
T245 |
1085-1094 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50285 |
denotes |
mechanism |
T246 |
1490-1499 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50285 |
denotes |
mechanism |
T247 |
1085-1094 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25343 |
denotes |
mechanism |
T248 |
1490-1499 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25343 |
denotes |
mechanism |
T249 |
1085-1094 |
http://purl.bioontology.org/ontology/SNOMEDCT/278109006 |
denotes |
mechanism |
T250 |
1490-1499 |
http://purl.bioontology.org/ontology/SNOMEDCT/278109006 |
denotes |
mechanism |
T251 |
1111-1115 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
T252 |
1111-1115 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
T253 |
1111-1115 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
T254 |
1111-1115 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
T255 |
1111-1115 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
T256 |
1111-1115 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
T257 |
1158-1168 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49156 |
denotes |
comparison |
T258 |
1196-1201 |
http://purl.bioontology.org/ontology/MESH/D005145 |
denotes |
faces |
T259 |
1354-1361 |
http://purl.bioontology.org/ontology/SNOMEDCT/40885006 |
denotes |
variant |
T260 |
1354-1361 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25713 |
denotes |
variant |
T261 |
1362-1367 |
http://purl.bioontology.org/ontology/SNOMEDCT/261664005 |
denotes |
types |
T262 |
1382-1392 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54121 |
denotes |
C-terminal |
T263 |
1384-1392 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50216 |
denotes |
terminal |
T264 |
1384-1392 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47940 |
denotes |
terminal |
T265 |
1425-1443 |
http://purl.bioontology.org/ontology/MESH/D057895 |
denotes |
haploinsufficiency |
T266 |
1471-1481 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154417 |
denotes |
underlying |
T267 |
1482-1489 |
http://purl.obolibrary.org/obo/OGMS_0000031 |
denotes |
disease |
T268 |
1482-1489 |
http://purl.bioontology.org/ontology/NDFRT/N0000000981 |
denotes |
disease |
T269 |
1482-1489 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
disease |
T270 |
1501-1508 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25629 |
denotes |
leading |
T271 |
1560-1564 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74299 |
denotes |
work |
T272 |
1560-1564 |
http://purl.bioontology.org/ontology/MESH/D014937 |
denotes |
work |
T273 |
1609-1616 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73624 |
denotes |
sharing |
T274 |
1748-1759 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142157 |
denotes |
delineation |
T1 |
0-7 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
De Novo |
T3 |
12-21 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28018 |
denotes |
Inherited |
T5 |
22-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
Loss |
T8 |
30-38 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
Function |
T11 |
30-38 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
Function |
T14 |
30-38 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
Function |
T17 |
30-38 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
Function |
T20 |
30-38 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
Function |
T23 |
30-38 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
Function |
T26 |
51-55 |
http://purl.obolibrary.org/obo/PR_000016378 |
denotes |
TLK2 |
T31 |
57-65 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
Clinical |
T33 |
57-65 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
Clinical |
T35 |
57-65 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
Clinical |
T37 |
57-65 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
Clinical |
T39 |
70-78 |
http://purl.bioontology.org/ontology/MESH/D005838 |
denotes |
Genotype |
T42 |
70-78 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45447 |
denotes |
Genotype |
T45 |
70-78 |
http://purl.bioontology.org/ontology/SNOMEDCT/363779003 |
denotes |
Genotype |
T48 |
70-78 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16631 |
denotes |
Genotype |
T51 |
79-88 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
Phenotype |
T56 |
79-88 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
Phenotype |
T61 |
79-88 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
Phenotype |
T68 |
79-88 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
Phenotype |
T73 |
89-99 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25214 |
denotes |
Evaluation |
T75 |
114-141 |
http://purl.bioontology.org/ontology/MESH/D065886 |
denotes |
Neurodevelopmental Disorder |
T77 |
114-141 |
http://purl.bioontology.org/ontology/MEDDRA/10064062 |
denotes |
Neurodevelopmental Disorder |
T78 |
114-141 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89338 |
denotes |
Neurodevelopmental Disorder |
T79 |
114-141 |
http://purl.bioontology.org/ontology/SNOMEDCT/700364009 |
denotes |
Neurodevelopmental Disorder |
T80 |
133-141 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
Disorder |
T82 |
133-141 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
Disorder |