Id |
Subject |
Object |
Predicate |
Lexical cue |
T5 |
756-762 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
T6 |
917-923 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
Severe |
T7 |
1047-1053 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
T8 |
1118-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
T9 |
1532-1538 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
T11 |
756-762 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
T12 |
917-923 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
Severe |
T13 |
1047-1053 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
T14 |
1118-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
T15 |
1532-1538 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
T17 |
756-762 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
T18 |
917-923 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
Severe |
T19 |
1047-1053 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
T20 |
1118-1124 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
T21 |
1532-1538 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
T23 |
756-762 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
T24 |
917-923 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
Severe |
T25 |
1047-1053 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
T26 |
1118-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
T27 |
1532-1538 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
T29 |
756-762 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
T30 |
917-923 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
Severe |
T31 |
1047-1053 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
T32 |
1118-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
T33 |
1532-1538 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
T35 |
756-762 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
T36 |
917-923 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
Severe |
T37 |
1047-1053 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
T38 |
1118-1124 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
T39 |
1532-1538 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
T45 |
522-527 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12439 |
denotes |
brain |
T47 |
522-527 |
http://purl.bioontology.org/ontology/SNOMEDCT/12738006 |
denotes |
brain |
T49 |
522-527 |
http://purl.bioontology.org/ontology/MESH/D001921 |
denotes |
brain |
T51 |
522-527 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23373 |
denotes |
brain |
T53 |
522-527 |
http://purl.org/sig/ont/fma/fma50801 |
denotes |
brain |
T55 |
522-527 |
http://purl.obolibrary.org/obo/UBERON_0000955 |
denotes |
brain |
T57 |
522-527 |
http://purl.obolibrary.org/obo/UBERON_0000955 |
denotes |
brain |
T62 |
1061-1074 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17770 |
denotes |
developmental |
T66 |
554-568 |
http://purl.bioontology.org/ontology/SNOMEDCT/111246005 |
denotes |
arthrogryposis |
T68 |
554-568 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84572 |
denotes |
arthrogryposis |
T70 |
554-568 |
http://purl.bioontology.org/ontology/OMIM/MTHU033304 |
denotes |
arthrogryposis |
T72 |
554-568 |
http://purl.bioontology.org/ontology/MESH/D001176 |
denotes |
arthrogryposis |
T73 |
113-118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
T74 |
113-118 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
T75 |
123-142 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130177 |
denotes |
targeted sequencing |
T76 |
123-131 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64542 |
denotes |
targeted |
T77 |
123-131 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25702 |
denotes |
targeted |
T78 |
132-142 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
T79 |
132-142 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
T80 |
132-142 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
T81 |
169-178 |
http://purl.bioontology.org/ontology/SNOMEDCT/262241003 |
denotes |
unrelated |
T82 |
169-178 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53256 |
denotes |
unrelated |
T83 |
169-178 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25328 |
denotes |
unrelated |
T84 |
193-204 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54669 |
denotes |
overlapping |
T85 |
205-213 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
T86 |
205-213 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
T87 |
205-213 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
T88 |
205-213 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
T89 |
229-239 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
T90 |
229-239 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
T91 |
240-244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T92 |
924-928 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T93 |
1238-1242 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25559 |
denotes |
loss |
T94 |
248-256 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T95 |
932-940 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T96 |
1246-1254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T97 |
248-256 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T98 |
932-940 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T99 |
1246-1254 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T100 |
248-256 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T101 |
932-940 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T102 |
1246-1254 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T103 |
248-256 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T104 |
932-940 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T105 |
1246-1254 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T106 |
248-256 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T107 |
932-940 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T108 |
1246-1254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T109 |
248-256 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T110 |
932-940 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T111 |
1246-1254 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T112 |
300-311 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142157 |
denotes |
delineation |
T113 |
318-327 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32168 |
denotes |
autosomal |
T114 |
338-343 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multi |
T115 |
344-350 |
http://purl.bioontology.org/ontology/SNOMEDCT/733021006 |
denotes |
system |
T116 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154465 |
denotes |
system |
T117 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50311 |
denotes |
system |
T118 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40568 |
denotes |
system |
T119 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C149975 |
denotes |
system |
T120 |
344-350 |
http://purl.bioontology.org/ontology/SNOMEDCT/246333005 |
denotes |
system |
T121 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25700 |
denotes |
system |
T122 |
344-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17423 |
denotes |
system |
T123 |
351-359 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T124 |
405-413 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T125 |
505-513 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T126 |
1284-1292 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T127 |
351-359 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T128 |
405-413 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T129 |
505-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T130 |
1284-1292 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T131 |
415-418 |
http://purl.obolibrary.org/obo/PR_Q8R1S4 |
denotes |
MIM |
T132 |
415-418 |
http://purl.obolibrary.org/obo/PR_000010751 |
denotes |
MIM |
T133 |
415-418 |
http://purl.obolibrary.org/obo/PR_Q9FII7 |
denotes |
MIM |
T134 |
428-434 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38019 |
denotes |
Shared |
T135 |
446-454 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
features |
T136 |
481-496 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
characteristics |
T137 |
1589-1597 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25447 |
denotes |
features |
T138 |
472-480 |
http://purl.obolibrary.org/obo/PR_000005040 |
denotes |
cardinal |
T139 |
472-480 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84305 |
denotes |
cardinal |
T140 |
472-480 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84306 |
denotes |
cardinal |
T141 |
514-521 |
http://purl.bioontology.org/ontology/SNOMEDCT/20909006 |
denotes |
combine |
T142 |
522-535 |
http://purl.bioontology.org/ontology/OMIM/MTHU005283 |
denotes |
brain atrophy |
T143 |
528-535 |
http://purl.bioontology.org/ontology/OMIM/MTHU006850 |
denotes |
atrophy |
T144 |
528-535 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79748 |
denotes |
atrophy |
T145 |
528-535 |
http://purl.bioontology.org/ontology/MEDDRA/10003694 |
denotes |
atrophy |
T146 |
528-535 |
http://purl.bioontology.org/ontology/MESH/D001284 |
denotes |
atrophy |
T147 |
528-535 |
http://purl.bioontology.org/ontology/SNOMEDCT/13331008 |
denotes |
atrophy |
T148 |
528-535 |
http://purl.bioontology.org/ontology/NDFRT/N0000000509 |
denotes |
atrophy |
T149 |
541-549 |
http://purl.bioontology.org/ontology/MESH/D003025 |
denotes |
clubfoot |
T150 |
541-549 |
http://purl.bioontology.org/ontology/MEDDRA/10009694 |
denotes |
clubfoot |
T151 |
541-549 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84641 |
denotes |
clubfoot |
T152 |
541-549 |
http://purl.bioontology.org/ontology/NDFRT/N0000000797 |
denotes |
clubfoot |
T153 |
541-549 |
http://purl.bioontology.org/ontology/SNOMEDCT/397932003 |
denotes |
clubfoot |
T154 |
541-549 |
http://purl.bioontology.org/ontology/OMIM/MTHU002163 |
denotes |
clubfoot |
T155 |
604-612 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12351 |
denotes |
cerebral |
T156 |
662-670 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12351 |
denotes |
cerebral |
T157 |
625-641 |
http://purl.bioontology.org/ontology/SNOMEDCT/38146002 |
denotes |
underdevelopment |
T158 |
656-661 |
http://purl.bioontology.org/ontology/SNOMEDCT/255603008 |
denotes |
major |
T159 |
656-661 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45368 |
denotes |
major |
T160 |
683-691 |
http://purl.bioontology.org/ontology/SNOMEDCT/29143009 |
denotes |
thinning |
T161 |
712-718 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61468 |
denotes |
aspect |
T162 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129475 |
denotes |
moderate |
T163 |
722-730 |
http://purl.bioontology.org/ontology/SNOMEDCT/6736007 |
denotes |
moderate |
T164 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61376 |
denotes |
moderate |
T165 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156243 |
denotes |
moderate |
T166 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41339 |
denotes |
moderate |
T167 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84264 |
denotes |
moderate |
T168 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122949 |
denotes |
moderate |
T169 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121394 |
denotes |
moderate |
T170 |
722-730 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125256 |
denotes |
moderate |
T171 |
743-754 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C139136 |
denotes |
rarefaction |
T172 |
766-787 |
http://purl.bioontology.org/ontology/OMIM/MTHU058088 |
denotes |
mild ventriculomegaly |
T173 |
766-770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41338 |
denotes |
mild |
T174 |
766-770 |
http://purl.bioontology.org/ontology/SNOMEDCT/255604002 |
denotes |
mild |
T175 |
766-770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156242 |
denotes |
mild |
T176 |
766-770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70666 |
denotes |
mild |
T177 |
771-787 |
http://purl.bioontology.org/ontology/SNOMEDCT/413808003 |
denotes |
ventriculomegaly |
T178 |
771-787 |
http://purl.bioontology.org/ontology/OMIM/MTHU001601 |
denotes |
ventriculomegaly |
T179 |
771-787 |
http://purl.bioontology.org/ontology/OMIM/236600 |
denotes |
ventriculomegaly |
T180 |
771-787 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50803 |
denotes |
ventriculomegaly |
T181 |
789-810 |
http://purl.bioontology.org/ontology/MEDDRA/10008033 |
denotes |
cerebellar hypoplasia |
T182 |
789-810 |
http://purl.bioontology.org/ontology/MESH/C562568 |
denotes |
cerebellar hypoplasia |
T183 |
789-810 |
http://purl.bioontology.org/ontology/OMIM/213000 |
denotes |
cerebellar hypoplasia |
T184 |
789-810 |
http://purl.bioontology.org/ontology/OMIM/MTHU000269 |
denotes |
cerebellar hypoplasia |
T185 |
789-799 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12445 |
denotes |
cerebellar |
T186 |
800-810 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120893 |
denotes |
hypoplasia |
T187 |
800-810 |
http://purl.bioontology.org/ontology/SNOMEDCT/55199003 |
denotes |
hypoplasia |
T188 |
816-825 |
http://purl.org/sig/ont/fma/fma79876 |
denotes |
brainstem |
T189 |
816-825 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12441 |
denotes |
brainstem |
T190 |
826-836 |
http://purl.bioontology.org/ontology/SNOMEDCT/21390004 |
denotes |
dysgenesis |
T191 |
842-849 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13306 |
denotes |
cardiac |
T192 |
842-849 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12727 |
denotes |
cardiac |
T193 |
854-868 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16939 |
denotes |
ophthalmologic |
T194 |
854-868 |
http://purl.bioontology.org/ontology/SNOMEDCT/239005 |
denotes |
ophthalmologic |
T195 |
888-902 |
http://purl.bioontology.org/ontology/SNOMEDCT/61142002 |
denotes |
microphthalmia |
T196 |
888-902 |
http://purl.bioontology.org/ontology/MEDDRA/10027547 |
denotes |
microphthalmia |
T197 |
888-902 |
http://purl.bioontology.org/ontology/NDFRT/N0000002012 |
denotes |
microphthalmia |
T198 |
888-902 |
http://purl.bioontology.org/ontology/MESH/D008850 |
denotes |
microphthalmia |
T199 |
888-902 |
http://purl.bioontology.org/ontology/OMIM/MTHU036342 |
denotes |
microphthalmia |
T200 |
907-915 |
http://purl.bioontology.org/ontology/SNOMEDCT/128306009 |
denotes |
cataract |
T201 |
907-915 |
http://purl.bioontology.org/ontology/MEDDRA/10007739 |
denotes |
cataract |
T202 |
907-915 |
http://purl.bioontology.org/ontology/OMIM/MTHU004637 |
denotes |
cataract |
T203 |
907-915 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146674 |
denotes |
cataract |
T204 |
907-915 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55830 |
denotes |
cataract |
T205 |
907-915 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26713 |
denotes |
cataract |
T206 |
907-915 |
http://purl.bioontology.org/ontology/SNOMEDCT/193570009 |
denotes |
cataract |
T207 |
907-915 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0086543 |
denotes |
cataract |
T208 |
907-915 |
http://purl.bioontology.org/ontology/NDFRT/N0000000698 |
denotes |
cataract |
T209 |
907-915 |
http://purl.bioontology.org/ontology/MESH/D002386 |
denotes |
cataract |
T210 |
941-946 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
cases |
T211 |
970-974 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142142 |
denotes |
life |
T212 |
970-974 |
http://purl.bioontology.org/ontology/MESH/D019369 |
denotes |
life |
T213 |
970-974 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20203 |
denotes |
life |
T214 |
1032-1041 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61388 |
denotes |
presented |
T215 |
1054-1080 |
http://purl.bioontology.org/ontology/SNOMEDCT/224958001 |
denotes |
global developmental delay |
T216 |
1054-1080 |
http://purl.bioontology.org/ontology/OMIM/MTHU015980 |
denotes |
global developmental delay |
T217 |
1054-1060 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68846 |
denotes |
global |
T218 |
1061-1080 |
http://purl.bioontology.org/ontology/MEDDRA/10012559 |
denotes |
developmental delay |
T219 |
1061-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116942 |
denotes |
developmental delay |
T220 |
1061-1080 |
http://purl.bioontology.org/ontology/OMIM/MTHU000185 |
denotes |
developmental delay |
T221 |
1061-1080 |
http://purl.bioontology.org/ontology/SNOMEDCT/248290002 |
denotes |
developmental delay |
T222 |
1061-1074 |
http://purl.bioontology.org/ontology/SNOMEDCT/278923009 |
denotes |
developmental |
T223 |
1075-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25476 |
denotes |
delay |
T224 |
1082-1092 |
http://purl.bioontology.org/ontology/SNOMEDCT/373413006 |
denotes |
syndactyly |
T225 |
1082-1092 |
http://purl.bioontology.org/ontology/MEDDRA/10042778 |
denotes |
syndactyly |
T226 |
1082-1092 |
http://purl.bioontology.org/ontology/ICD10/Q70 |
denotes |
syndactyly |
T227 |
1082-1092 |
http://purl.bioontology.org/ontology/OMIM/MTHU036337 |
denotes |
syndactyly |
T228 |
1082-1092 |
http://purl.bioontology.org/ontology/OMIM/MTHU037813 |
denotes |
syndactyly |
T229 |
1082-1092 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87125 |
denotes |
syndactyly |
T230 |
1082-1092 |
http://purl.bioontology.org/ontology/MESH/D013576 |
denotes |
syndactyly |
T231 |
1082-1092 |
http://purl.bioontology.org/ontology/NDFRT/N0000002874 |
denotes |
syndactyly |
T232 |
1104-1107 |
http://purl.bioontology.org/ontology/SNOMEDCT/70905002 |
denotes |
3rd |
T233 |
1108-1112 |
http://purl.org/sig/ont/fma/fma70664 |
denotes |
toes |
T234 |
1108-1112 |
http://purl.bioontology.org/ontology/MESH/D014034 |
denotes |
toes |
T235 |
1125-1141 |
http://purl.bioontology.org/ontology/MESH/D009123 |
denotes |
muscle hypotonia |
T236 |
1125-1141 |
http://purl.bioontology.org/ontology/OMIM/MTHU034618 |
denotes |
muscle hypotonia |
T237 |
1125-1131 |
http://purl.bioontology.org/ontology/SNOMEDCT/71616004 |
denotes |
muscle |
T238 |
1125-1131 |
http://purl.org/sig/ont/fma/fma30316 |
denotes |
muscle |
T239 |
1125-1131 |
http://purl.bioontology.org/ontology/MESH/D009132 |
denotes |
muscle |
T240 |
1125-1131 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13056 |
denotes |
muscle |
T241 |
1125-1131 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23958 |
denotes |
muscle |
T242 |
1125-1131 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23369 |
denotes |
muscle |
T243 |
1132-1141 |
http://purl.bioontology.org/ontology/MEDDRA/10021118 |
denotes |
hypotonia |
T244 |
1132-1141 |
http://purl.bioontology.org/ontology/NDFRT/N0000002059 |
denotes |
hypotonia |
T245 |
1132-1141 |
http://purl.bioontology.org/ontology/OMIM/MTHU000197 |
denotes |
hypotonia |
T246 |
1132-1141 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87070 |
denotes |
hypotonia |
T247 |
1142-1154 |
http://purl.bioontology.org/ontology/SNOMEDCT/79409006 |
denotes |
resulting in |
T248 |
1169-1174 |
http://purl.bioontology.org/ontology/SNOMEDCT/706479008 |
denotes |
stand |
T249 |
1169-1174 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50189 |
denotes |
stand |
T250 |
1183-1190 |
http://purl.bioontology.org/ontology/SNOMEDCT/243114000 |
denotes |
support |
T251 |
1183-1190 |
http://purl.bioontology.org/ontology/SNOMEDCT/9096001 |
denotes |
support |
T252 |
1183-1190 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37902 |
denotes |
support |
T253 |
1192-1207 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
Consistent with |
T254 |
1192-1202 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
Consistent |
T255 |
1192-1207 |
http://purl.bioontology.org/ontology/SNOMEDCT/385433004 |
denotes |
Consistent with |
T256 |
1220-1224 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25199 |
denotes |
role |
T257 |
1220-1224 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42754 |
denotes |
role |
T258 |
1220-1224 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43643 |
denotes |
role |
T259 |
1220-1224 |
http://purl.bioontology.org/ontology/MESH/D012380 |
denotes |
role |
T260 |
1220-1224 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48835 |
denotes |
role |
T261 |
1220-1224 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42768 |
denotes |
role |
T262 |
1220-1224 |
http://purl.obolibrary.org/obo/BFO_0000023 |
denotes |
role |
T263 |
1220-1224 |
http://purl.obolibrary.org/obo/BFO_0000023 |
denotes |
role |
T264 |
1312-1321 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14287 |
denotes |
zebrafish |
T265 |
1312-1321 |
http://purl.bioontology.org/ontology/MESH/D015027 |
denotes |
zebrafish |
T266 |
1312-1321 |
http://purl.obolibrary.org/obo/NCBITaxon_7955 |
denotes |
zebrafish |
T267 |
1312-1321 |
http://purl.obolibrary.org/obo/NCBITaxon_7955 |
denotes |
zebrafish |
T268 |
1322-1338 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28708 |
denotes |
orthologous gene |
T269 |
1322-1333 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48811 |
denotes |
orthologous |
T270 |
1489-1500 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48811 |
denotes |
orthologous |
T271 |
1334-1338 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
T272 |
1334-1338 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
T273 |
1334-1338 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
T274 |
1334-1338 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
T275 |
1334-1338 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
T276 |
1501-1506 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
T277 |
1364-1376 |
http://purl.bioontology.org/ontology/NDFRT/N0000001566 |
denotes |
hydrocephaly |
T278 |
1364-1376 |
http://purl.bioontology.org/ontology/MEDDRA/10020513 |
denotes |
hydrocephaly |
T279 |
1364-1376 |
http://purl.bioontology.org/ontology/OMIM/MTHU037109 |
denotes |
hydrocephaly |
T280 |
1364-1376 |
http://purl.bioontology.org/ontology/SNOMEDCT/230745008 |
denotes |
hydrocephaly |
T281 |
1392-1398 |
http://purl.bioontology.org/ontology/SNOMEDCT/60301000 |
denotes |
curved |
T282 |
1392-1398 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124498 |
denotes |
curved |
T283 |
1422-1426 |
http://purl.org/sig/ont/fma/fma256135 |
denotes |
body |
T284 |
1422-1426 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13041 |
denotes |
body |
T285 |
1422-1426 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71893 |
denotes |
body |
T286 |
1427-1432 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97513 |
denotes |
shape |
T287 |
1427-1432 |
http://purl.bioontology.org/ontology/SNOMEDCT/300842002 |
denotes |
shape |
T288 |
1427-1432 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25677 |
denotes |
shape |
T289 |
1442-1451 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48669 |
denotes |
published |
T290 |
1442-1451 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19026 |
denotes |
published |
T291 |
1469-1478 |
http://purl.obolibrary.org/obo/NCBITaxon_7227 |
denotes |
fruit fly |
T292 |
1469-1478 |
http://purl.obolibrary.org/obo/NCBITaxon_7227 |
denotes |
fruit fly |
T293 |
1469-1474 |
http://purl.bioontology.org/ontology/MESH/D005638 |
denotes |
fruit |
T294 |
1469-1474 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71972 |
denotes |
fruit |
T295 |
1469-1474 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73389 |
denotes |
fruit |
T296 |
1469-1474 |
http://purl.bioontology.org/ontology/SNOMEDCT/72511004 |
denotes |
fruit |
T297 |
1469-1474 |
http://purl.obolibrary.org/obo/PO_0009001 |
denotes |
fruit |
T298 |
1475-1478 |
http://purl.bioontology.org/ontology/SNOMEDCT/10147004 |
denotes |
fly |
T299 |
1483-1488 |
http://purl.bioontology.org/ontology/SNOMEDCT/82968002 |
denotes |
mouse |
T300 |
1483-1488 |
http://purl.bioontology.org/ontology/MESH/D051379 |
denotes |
mouse |
T301 |
1483-1488 |
http://purl.obolibrary.org/obo/NCBITaxon_10090 |
denotes |
mouse |
T302 |
1483-1488 |
http://purl.obolibrary.org/obo/NCBITaxon_10090 |
denotes |
mouse |
T303 |
1483-1488 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14238 |
denotes |
mouse |
T304 |
1501-1506 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
T305 |
1519-1528 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118792 |
denotes |
lethality |
T306 |
1539-1551 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25262 |
denotes |
neurological |
T1 |
22-37 |
http://purl.bioontology.org/ontology/SNOMEDCT/47429007 |
denotes |
Associated with |
T2 |
22-32 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25281 |
denotes |
Associated |
T3 |
40-55 |
http://purl.bioontology.org/ontology/OMIM/MTHU000910 |
denotes |
Severe Disorder |
T4 |
40-46 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
Severe |
T10 |
40-46 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
Severe |
T16 |
40-46 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
Severe |
T22 |
40-46 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
Severe |
T28 |
40-46 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
Severe |
T34 |
40-46 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
Severe |
T40 |
47-64 |
http://purl.bioontology.org/ontology/SNOMEDCT/81308009 |
denotes |
Disorder of Brain |
T41 |
47-55 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
Disorder |
T42 |
47-55 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
Disorder |
T43 |
59-76 |
http://purl.obolibrary.org/obo/GO_0007420 |
denotes |
Brain Development |
T44 |
59-64 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12439 |
denotes |
Brain |
T46 |
59-64 |
http://purl.bioontology.org/ontology/SNOMEDCT/12738006 |
denotes |
Brain |
T48 |
59-64 |
http://purl.bioontology.org/ontology/MESH/D001921 |
denotes |
Brain |
T50 |
59-64 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23373 |
denotes |
Brain |
T52 |
59-64 |
http://purl.org/sig/ont/fma/fma50801 |
denotes |
Brain |
T54 |
59-64 |
http://purl.obolibrary.org/obo/UBERON_0000955 |
denotes |
Brain |
T56 |
59-64 |
http://purl.obolibrary.org/obo/UBERON_0000955 |
denotes |
Brain |
T58 |
65-76 |
http://purl.obolibrary.org/obo/GO_0032502 |
denotes |
Development |
T59 |
65-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18732 |
denotes |
Development |
T60 |
65-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96110 |
denotes |
Development |
T61 |
65-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17770 |
denotes |
Development |
T63 |
65-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133991 |
denotes |
Development |
T64 |
65-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84377 |
denotes |
Development |
T65 |
81-95 |
http://purl.bioontology.org/ontology/SNOMEDCT/111246005 |
denotes |
Arthrogryposis |
T67 |
81-95 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84572 |
denotes |
Arthrogryposis |
T69 |
81-95 |
http://purl.bioontology.org/ontology/OMIM/MTHU033304 |
denotes |
Arthrogryposis |
T71 |
81-95 |
http://purl.bioontology.org/ontology/MESH/D001176 |
denotes |
Arthrogryposis |