| 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 |