| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T53 |
0-8 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25428 |
denotes |
Atypical |
| T54 |
0-8 |
http://purl.bioontology.org/ontology/SNOMEDCT/112231000 |
denotes |
Atypical |
| T55 |
0-8 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9478 |
denotes |
Atypical |
| T56 |
9-13 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
| T57 |
790-794 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
Case |
| T58 |
1391-1395 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
| T59 |
9-13 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
| T60 |
790-794 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
Case |
| T61 |
1391-1395 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
| T62 |
9-13 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
| T63 |
790-794 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
Case |
| T64 |
1391-1395 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
| T65 |
9-13 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
| T66 |
790-794 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
Case |
| T67 |
1391-1395 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
| T68 |
9-13 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
| T69 |
790-794 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
Case |
| T70 |
1391-1395 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
| T71 |
9-13 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
| T72 |
790-794 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
Case |
| T73 |
1391-1395 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
| T74 |
17-33 |
http://purl.bioontology.org/ontology/MESH/D014929 |
denotes |
Wolfram syndrome |
| T75 |
1356-1372 |
http://purl.bioontology.org/ontology/MESH/D014929 |
denotes |
Wolfram syndrome |
| T76 |
1633-1649 |
http://purl.bioontology.org/ontology/MESH/D014929 |
denotes |
Wolfram syndrome |
| T77 |
1774-1790 |
http://purl.bioontology.org/ontology/MESH/D014929 |
denotes |
Wolfram syndrome |
| T78 |
17-33 |
http://purl.bioontology.org/ontology/MEDDRA/10078338 |
denotes |
Wolfram syndrome |
| T79 |
1356-1372 |
http://purl.bioontology.org/ontology/MEDDRA/10078338 |
denotes |
Wolfram syndrome |
| T80 |
1633-1649 |
http://purl.bioontology.org/ontology/MEDDRA/10078338 |
denotes |
Wolfram syndrome |
| T81 |
1774-1790 |
http://purl.bioontology.org/ontology/MEDDRA/10078338 |
denotes |
Wolfram syndrome |
| T82 |
17-33 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 |
denotes |
Wolfram syndrome |
| T83 |
1356-1372 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 |
denotes |
Wolfram syndrome |
| T84 |
1633-1649 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 |
denotes |
Wolfram syndrome |
| T85 |
1774-1790 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 |
denotes |
Wolfram syndrome |
| T86 |
17-24 |
http://purl.bioontology.org/ontology/MESH/D014414 |
denotes |
Wolfram |
| T87 |
1356-1363 |
http://purl.bioontology.org/ontology/MESH/D014414 |
denotes |
Wolfram |
| T88 |
1633-1640 |
http://purl.bioontology.org/ontology/MESH/D014414 |
denotes |
Wolfram |
| T89 |
1774-1781 |
http://purl.bioontology.org/ontology/MESH/D014414 |
denotes |
Wolfram |
| T90 |
25-33 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T91 |
1049-1057 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T92 |
1364-1372 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T93 |
1641-1649 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T94 |
1782-1790 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
| T95 |
25-33 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T96 |
1049-1057 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T97 |
1364-1372 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T98 |
1641-1649 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T99 |
1782-1790 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
| T100 |
34-42 |
http://purl.bioontology.org/ontology/SNOMEDCT/263857004 |
denotes |
revealed |
| T101 |
1075-1083 |
http://purl.bioontology.org/ontology/SNOMEDCT/263857004 |
denotes |
revealed |
| T102 |
1224-1232 |
http://purl.bioontology.org/ontology/SNOMEDCT/263857004 |
denotes |
revealed |
| T103 |
51-59 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64542 |
denotes |
targeted |
| T104 |
403-411 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64542 |
denotes |
targeted |
| T105 |
808-816 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64542 |
denotes |
Targeted |
| T106 |
1198-1206 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64542 |
denotes |
Targeted |
| T107 |
51-59 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25702 |
denotes |
targeted |
| T108 |
403-411 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25702 |
denotes |
targeted |
| T109 |
808-816 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25702 |
denotes |
Targeted |
| T110 |
1198-1206 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25702 |
denotes |
Targeted |
| T111 |
60-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T112 |
412-428 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T113 |
817-833 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T114 |
1207-1223 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T115 |
60-65 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T116 |
412-417 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T117 |
817-822 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T118 |
1207-1212 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T119 |
60-65 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T120 |
412-417 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T121 |
817-822 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T122 |
1207-1212 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T123 |
66-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T124 |
418-428 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T125 |
823-833 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T126 |
1213-1223 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T127 |
1453-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T128 |
66-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T129 |
418-428 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T130 |
823-833 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T131 |
1213-1223 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T132 |
1453-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T133 |
66-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T134 |
418-428 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T135 |
823-833 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T136 |
1213-1223 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T137 |
1453-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T138 |
82-89 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T139 |
540-547 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T140 |
853-860 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T141 |
919-926 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T142 |
1343-1350 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T143 |
1620-1627 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T144 |
82-89 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T145 |
540-547 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T146 |
853-860 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T147 |
919-926 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T148 |
1343-1350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T149 |
1504-1512 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T150 |
1620-1627 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T151 |
1791-1799 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T152 |
82-89 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T153 |
540-547 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T154 |
853-860 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T155 |
919-926 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T156 |
1343-1350 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T157 |
1620-1627 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T158 |
82-89 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T159 |
540-547 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T160 |
853-860 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T161 |
919-926 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T162 |
1343-1350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T163 |
1620-1627 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T164 |
95-104 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71458 |
denotes |
suspected |
| T165 |
871-880 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71458 |
denotes |
suspected |
| T166 |
1513-1522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71458 |
denotes |
suspected |
| T167 |
95-104 |
http://purl.bioontology.org/ontology/SNOMEDCT/415684004 |
denotes |
suspected |
| T168 |
871-880 |
http://purl.bioontology.org/ontology/SNOMEDCT/415684004 |
denotes |
suspected |
| T169 |
1513-1522 |
http://purl.bioontology.org/ontology/SNOMEDCT/415684004 |
denotes |
suspected |
| T170 |
105-126 |
http://purl.bioontology.org/ontology/SNOMEDCT/240096000 |
denotes |
mitochondrial disease |
| T171 |
105-118 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T172 |
149-162 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
Mitochondrial |
| T173 |
482-495 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T174 |
568-581 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T175 |
643-656 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T176 |
891-904 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T177 |
105-118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T178 |
149-162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
Mitochondrial |
| T179 |
482-495 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T180 |
568-581 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T181 |
643-656 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T182 |
891-904 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T183 |
119-126 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disease |
| T184 |
163-171 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
diseases |
| T185 |
207-216 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T186 |
347-355 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
diseases |
| T187 |
496-504 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
diseases |
| T188 |
678-687 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T189 |
775-782 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disease |
| T190 |
905-913 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorder |
| T191 |
1544-1553 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T192 |
119-126 |
http://purl.obolibrary.org/obo/OGMS_0000031 |
denotes |
disease |
| T193 |
775-782 |
http://purl.obolibrary.org/obo/OGMS_0000031 |
denotes |
disease |
| T194 |
119-126 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
disease |
| T195 |
775-782 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
disease |
| T196 |
905-913 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
disorder |
| T197 |
119-126 |
http://purl.bioontology.org/ontology/NDFRT/N0000000981 |
denotes |
disease |
| T198 |
775-782 |
http://purl.bioontology.org/ontology/NDFRT/N0000000981 |
denotes |
disease |
| T199 |
119-126 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
disease |
| T200 |
163-171 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
diseases |
| T201 |
347-355 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
diseases |
| T202 |
496-504 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
diseases |
| T203 |
775-782 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
disease |
| T204 |
138-148 |
http://purl.obolibrary.org/obo/IAO_0000316 |
denotes |
Background |
| T205 |
138-148 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45782 |
denotes |
Background |
| T206 |
149-171 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651 |
denotes |
Mitochondrial diseases |
| T207 |
482-504 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651 |
denotes |
mitochondrial diseases |
| T208 |
149-171 |
http://purl.bioontology.org/ontology/NDFRT/N0000010931 |
denotes |
Mitochondrial diseases |
| T209 |
482-504 |
http://purl.bioontology.org/ontology/NDFRT/N0000010931 |
denotes |
mitochondrial diseases |
| T210 |
149-171 |
http://purl.bioontology.org/ontology/MESH/D028361 |
denotes |
Mitochondrial diseases |
| T211 |
482-504 |
http://purl.bioontology.org/ontology/MESH/D028361 |
denotes |
mitochondrial diseases |
| T212 |
172-180 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79873 |
denotes |
comprise |
| T213 |
183-190 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62263 |
denotes |
diverse |
| T214 |
191-194 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47894 |
denotes |
set |
| T215 |
191-194 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123981 |
denotes |
set |
| T216 |
191-194 |
http://purl.bioontology.org/ontology/MESH/D012718 |
denotes |
set |
| T217 |
191-194 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29939 |
denotes |
set |
| T218 |
191-194 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24801 |
denotes |
set |
| T219 |
191-194 |
http://purl.obolibrary.org/obo/PR_000014717 |
denotes |
set |
| T220 |
198-206 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
| T221 |
305-313 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
| T222 |
1413-1421 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
| T223 |
1751-1759 |
http://purl.bioontology.org/ontology/SNOMEDCT/58147004 |
denotes |
clinical |
| T224 |
198-206 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
| T225 |
305-313 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
| T226 |
1413-1421 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
| T227 |
1751-1759 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133992 |
denotes |
clinical |
| T228 |
198-206 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
| T229 |
305-313 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
| T230 |
1413-1421 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
| T231 |
1751-1759 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25398 |
denotes |
clinical |
| T232 |
198-206 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
| T233 |
305-313 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
| T234 |
1413-1421 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
| T235 |
1751-1759 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96111 |
denotes |
clinical |
| T236 |
222-228 |
http://purl.bioontology.org/ontology/SNOMEDCT/4065008 |
denotes |
affect |
| T237 |
222-228 |
http://purl.bioontology.org/ontology/MESH/D000339 |
denotes |
affect |
| T238 |
229-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C78728 |
denotes |
multiple |
| T239 |
766-774 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C78728 |
denotes |
multiple |
| T240 |
1084-1092 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C78728 |
denotes |
multiple |
| T241 |
229-237 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multiple |
| T242 |
693-698 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multi |
| T243 |
766-774 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multiple |
| T244 |
1084-1092 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multiple |
| T245 |
229-237 |
http://purl.bioontology.org/ontology/SNOMEDCT/255204007 |
denotes |
multiple |
| T246 |
766-774 |
http://purl.bioontology.org/ontology/SNOMEDCT/255204007 |
denotes |
multiple |
| T247 |
1084-1092 |
http://purl.bioontology.org/ontology/SNOMEDCT/255204007 |
denotes |
multiple |
| T248 |
238-243 |
http://purl.org/sig/ont/fma/fma67498 |
denotes |
organ |
| T249 |
238-243 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13018 |
denotes |
organ |
| T250 |
265-273 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25676 |
denotes |
severity |
| T251 |
265-273 |
http://purl.bioontology.org/ontology/SNOMEDCT/246112005 |
denotes |
severity |
| T252 |
278-290 |
http://purl.bioontology.org/ontology/MESH/D017668 |
denotes |
age of onset |
| T253 |
278-281 |
http://purl.obolibrary.org/obo/PR_000013884 |
denotes |
age |
| T254 |
278-281 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25150 |
denotes |
age |
| T255 |
278-281 |
http://purl.obolibrary.org/obo/PATO_0000011 |
denotes |
age |
| T256 |
278-281 |
http://purl.org/sig/ont/fma/fma0328408 |
denotes |
age |
| T257 |
278-281 |
http://purl.obolibrary.org/obo/PR_P51607 |
denotes |
age |
| T258 |
278-281 |
http://purl.bioontology.org/ontology/SNOMEDCT/397669002 |
denotes |
age |
| T259 |
285-290 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25279 |
denotes |
onset |
| T260 |
292-298 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89272 |
denotes |
Due to |
| T261 |
292-298 |
http://purl.bioontology.org/ontology/SNOMEDCT/42752001 |
denotes |
Due to |
| T262 |
318-339 |
http://purl.bioontology.org/ontology/MESH/D018740 |
denotes |
genetic heterogeneity |
| T263 |
318-339 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94509 |
denotes |
genetic heterogeneity |
| T264 |
318-339 |
http://purl.bioontology.org/ontology/OMIM/MTHU001096 |
denotes |
genetic heterogeneity |
| T265 |
318-325 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15238 |
denotes |
genetic |
| T266 |
1536-1543 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15238 |
denotes |
genetic |
| T267 |
318-325 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17938 |
denotes |
genetic |
| T268 |
1536-1543 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17938 |
denotes |
genetic |
| T269 |
326-339 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28359 |
denotes |
heterogeneity |
| T270 |
360-369 |
http://purl.bioontology.org/ontology/SNOMEDCT/52925006 |
denotes |
difficult |
| T271 |
360-369 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129485 |
denotes |
difficult |
| T272 |
360-369 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62189 |
denotes |
difficult |
| T273 |
453-460 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C78209 |
denotes |
ability |
| T274 |
509-514 |
http://purl.bioontology.org/ontology/SNOMEDCT/417924000 |
denotes |
apply |
| T275 |
509-514 |
http://purl.bioontology.org/ontology/SNOMEDCT/738991002 |
denotes |
apply |
| T276 |
509-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64915 |
denotes |
apply |
| T277 |
509-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113519 |
denotes |
apply |
| T278 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113519 |
denotes |
application |
| T279 |
529-539 |
http://purl.bioontology.org/ontology/SNOMEDCT/385435006 |
denotes |
individual |
| T280 |
529-539 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25190 |
denotes |
individual |
| T281 |
529-539 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17719 |
denotes |
individual |
| T282 |
553-559 |
http://purl.bioontology.org/ontology/SNOMEDCT/260686004 |
denotes |
method |
| T283 |
553-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71460 |
denotes |
method |
| T284 |
553-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16847 |
denotes |
method |
| T285 |
553-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40570 |
denotes |
method |
| T286 |
553-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85492 |
denotes |
method |
| T287 |
553-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C82535 |
denotes |
method |
| T288 |
553-559 |
http://purl.bioontology.org/ontology/MESH/D008722 |
denotes |
method |
| T289 |
568-585 |
http://purl.org/sig/ont/fma/fma67199 |
denotes |
mitochondrial DNA |
| T290 |
568-585 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mitochondrial DNA |
| T291 |
587-592 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mtDNA |
| T292 |
1107-1112 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mtDNA |
| T293 |
568-585 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mitochondrial DNA |
| T294 |
587-592 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mtDNA |
| T295 |
1107-1112 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mtDNA |
| T296 |
582-585 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
| T297 |
582-585 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
| T298 |
582-585 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
| T299 |
582-585 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
| T300 |
582-585 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
| T301 |
587-592 |
http://purl.bioontology.org/ontology/MESH/D004272 |
denotes |
mtDNA |
| T302 |
1107-1112 |
http://purl.bioontology.org/ontology/MESH/D004272 |
denotes |
mtDNA |
| T303 |
602-607 |
http://purl.bioontology.org/ontology/MESH/D005091 |
denotes |
exons |
| T304 |
613-616 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16953 |
denotes |
600 |
| T305 |
613-616 |
http://purl.bioontology.org/ontology/SNOMEDCT/725127002 |
denotes |
600 |
| T306 |
617-624 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13361 |
denotes |
nuclear |
| T307 |
625-630 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
| T308 |
625-630 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
| T309 |
631-639 |
http://purl.bioontology.org/ontology/SNOMEDCT/248448006 |
denotes |
involved |
| T310 |
631-639 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25547 |
denotes |
involved |
| T311 |
631-639 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25548 |
denotes |
involved |
| T312 |
657-664 |
http://purl.bioontology.org/ontology/MESH/D001695 |
denotes |
biology |
| T313 |
1689-1696 |
http://purl.bioontology.org/ontology/MESH/D001695 |
denotes |
biology |
| T314 |
657-664 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16345 |
denotes |
biology |
| T315 |
1689-1696 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16345 |
denotes |
biology |
| T316 |
668-687 |
http://purl.bioontology.org/ontology/SNOMEDCT/363202005 |
denotes |
Mendelian disorders |
| T317 |
699-705 |
http://purl.bioontology.org/ontology/SNOMEDCT/733021006 |
denotes |
system |
| T318 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154465 |
denotes |
system |
| T319 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50311 |
denotes |
system |
| T320 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40568 |
denotes |
system |
| T321 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C149975 |
denotes |
system |
| T322 |
699-705 |
http://purl.bioontology.org/ontology/SNOMEDCT/246333005 |
denotes |
system |
| T323 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25700 |
denotes |
system |
| T324 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17423 |
denotes |
system |
| T325 |
706-716 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotypes |
| T326 |
739-751 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25456 |
denotes |
simultaneous |
| T327 |
739-751 |
http://purl.bioontology.org/ontology/SNOMEDCT/79970003 |
denotes |
simultaneous |
| T328 |
752-762 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25214 |
denotes |
evaluation |
| T329 |
790-807 |
http://purl.obolibrary.org/obo/IAO_0000613 |
denotes |
Case Presentation |
| T330 |
795-807 |
http://purl.bioontology.org/ontology/SNOMEDCT/246105001 |
denotes |
Presentation |
| T331 |
795-807 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61388 |
denotes |
Presentation |
| T332 |
927-936 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61388 |
denotes |
presented |
| T333 |
838-847 |
http://purl.bioontology.org/ontology/SNOMEDCT/398166005 |
denotes |
performed |
| T334 |
838-847 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38000 |
denotes |
performed |
| T335 |
861-870 |
http://purl.bioontology.org/ontology/SNOMEDCT/884001 |
denotes |
initially |
| T336 |
942-959 |
http://purl.bioontology.org/ontology/ICD10/E10-E14.9 |
denotes |
diabetes mellitus |
| T337 |
942-959 |
http://purl.bioontology.org/ontology/NDFRT/N0000000950 |
denotes |
diabetes mellitus |
| T338 |
942-959 |
http://purl.bioontology.org/ontology/MESH/D003920 |
denotes |
diabetes mellitus |
| T339 |
942-959 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011849 |
denotes |
diabetes mellitus |
| T340 |
942-950 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011849 |
denotes |
diabetes |
| T341 |
942-959 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2985 |
denotes |
diabetes mellitus |
| T342 |
942-950 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2985 |
denotes |
diabetes |
| T343 |
942-959 |
http://purl.bioontology.org/ontology/MEDDRA/10012601 |
denotes |
diabetes mellitus |
| T344 |
942-959 |
http://purl.bioontology.org/ontology/SNOMEDCT/73211009 |
denotes |
diabetes mellitus |
| T345 |
942-959 |
http://purl.bioontology.org/ontology/OMIM/MTHU036798 |
denotes |
diabetes mellitus |
| T346 |
942-950 |
http://purl.bioontology.org/ontology/MEDDRA/10012594 |
denotes |
diabetes |
| T347 |
942-950 |
http://purl.bioontology.org/ontology/OMIM/MTHU050182 |
denotes |
diabetes |
| T348 |
961-982 |
http://purl.bioontology.org/ontology/OMIM/MTHU001324 |
denotes |
diffuse brain atrophy |
| T349 |
961-968 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14175 |
denotes |
diffuse |
| T350 |
961-968 |
http://purl.bioontology.org/ontology/SNOMEDCT/19648000 |
denotes |
diffuse |
| T351 |
969-982 |
http://purl.bioontology.org/ontology/OMIM/MTHU005283 |
denotes |
brain atrophy |
| T352 |
969-974 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12439 |
denotes |
brain |
| T353 |
969-974 |
http://purl.bioontology.org/ontology/SNOMEDCT/12738006 |
denotes |
brain |
| T354 |
969-974 |
http://purl.bioontology.org/ontology/MESH/D001921 |
denotes |
brain |
| T355 |
969-974 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23373 |
denotes |
brain |
| T356 |
969-974 |
http://purl.org/sig/ont/fma/fma50801 |
denotes |
brain |
| T357 |
969-974 |
http://purl.obolibrary.org/obo/UBERON_0000955 |
denotes |
brain |
| T358 |
969-974 |
http://purl.obolibrary.org/obo/UBERON_0000955 |
denotes |
brain |
| T359 |
975-982 |
http://purl.bioontology.org/ontology/OMIM/MTHU006850 |
denotes |
atrophy |
| T360 |
1018-1025 |
http://purl.bioontology.org/ontology/OMIM/MTHU006850 |
denotes |
atrophy |
| T361 |
975-982 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79748 |
denotes |
atrophy |
| T362 |
1018-1025 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79748 |
denotes |
atrophy |
| T363 |
975-982 |
http://purl.bioontology.org/ontology/MEDDRA/10003694 |
denotes |
atrophy |
| T364 |
1018-1025 |
http://purl.bioontology.org/ontology/MEDDRA/10003694 |
denotes |
atrophy |
| T365 |
975-982 |
http://purl.bioontology.org/ontology/MESH/D001284 |
denotes |
atrophy |
| T366 |
1018-1025 |
http://purl.bioontology.org/ontology/MESH/D001284 |
denotes |
atrophy |
| T367 |
975-982 |
http://purl.bioontology.org/ontology/SNOMEDCT/13331008 |
denotes |
atrophy |
| T368 |
1018-1025 |
http://purl.bioontology.org/ontology/SNOMEDCT/13331008 |
denotes |
atrophy |
| T369 |
975-982 |
http://purl.bioontology.org/ontology/NDFRT/N0000000509 |
denotes |
atrophy |
| T370 |
1018-1025 |
http://purl.bioontology.org/ontology/NDFRT/N0000000509 |
denotes |
atrophy |
| T371 |
984-1004 |
http://purl.bioontology.org/ontology/SNOMEDCT/277879009 |
denotes |
autonomic neuropathy |
| T372 |
984-1004 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27033 |
denotes |
autonomic neuropathy |
| T373 |
984-1004 |
http://purl.bioontology.org/ontology/MEDDRA/10061666 |
denotes |
autonomic neuropathy |
| T374 |
984-1004 |
http://purl.bioontology.org/ontology/OMIM/MTHU052930 |
denotes |
autonomic neuropathy |
| T375 |
984-993 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12673 |
denotes |
autonomic |
| T376 |
994-1004 |
http://purl.bioontology.org/ontology/OMIM/MTHU016030 |
denotes |
neuropathy |
| T377 |
994-1004 |
http://purl.bioontology.org/ontology/MEDDRA/10029328 |
denotes |
neuropathy |
| T378 |
994-1004 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4731 |
denotes |
neuropathy |
| T379 |
994-1004 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0442874 |
denotes |
neuropathy |
| T380 |
994-1004 |
http://purl.bioontology.org/ontology/SNOMEDCT/386033004 |
denotes |
neuropathy |
| T381 |
1006-1025 |
http://purl.bioontology.org/ontology/OMIM/MTHU036648 |
denotes |
optic nerve atrophy |
| T382 |
1006-1017 |
http://purl.bioontology.org/ontology/MESH/D009900 |
denotes |
optic nerve |
| T383 |
1006-1017 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12761 |
denotes |
optic nerve |
| T384 |
1006-1017 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23692 |
denotes |
optic nerve |
| T385 |
1006-1017 |
http://purl.org/sig/ont/fma/fma50863 |
denotes |
optic nerve |
| T386 |
1006-1011 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12401 |
denotes |
optic |
| T387 |
1012-1017 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12466 |
denotes |
nerve |
| T388 |
1012-1017 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23400 |
denotes |
nerve |
| T389 |
1012-1017 |
http://purl.org/sig/ont/fma/fma65132 |
denotes |
nerve |
| T390 |
1033-1039 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
| T391 |
1033-1039 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
| T392 |
1033-1039 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
| T393 |
1033-1039 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
| T394 |
1033-1039 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
| T395 |
1033-1039 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
| T396 |
1040-1057 |
http://purl.bioontology.org/ontology/MEDDRA/10001957 |
denotes |
amnestic syndrome |
| T397 |
1040-1057 |
http://purl.bioontology.org/ontology/SNOMEDCT/3298001 |
denotes |
amnestic syndrome |
| T398 |
1067-1074 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85833 |
denotes |
work-up |
| T399 |
1067-1071 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74299 |
denotes |
work |
| T400 |
1067-1071 |
http://purl.bioontology.org/ontology/MESH/D014937 |
denotes |
work |
| T401 |
1107-1122 |
http://purl.bioontology.org/ontology/OMIM/MTHU055931 |
denotes |
mtDNA deletions |
| T402 |
1126-1130 |
http://purl.bioontology.org/ontology/SNOMEDCT/20572008 |
denotes |
well |
| T403 |
1126-1130 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157663 |
denotes |
well |
| T404 |
1126-1130 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C128793 |
denotes |
well |
| T405 |
1126-1130 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70592 |
denotes |
well |
| T406 |
1143-1162 |
http://purl.bioontology.org/ontology/SNOMEDCT/399357009 |
denotes |
thiamine deficiency |
| T407 |
1595-1614 |
http://purl.bioontology.org/ontology/SNOMEDCT/399357009 |
denotes |
thiamine deficiency |
| T408 |
1143-1162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34418 |
denotes |
thiamine deficiency |
| T409 |
1595-1614 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34418 |
denotes |
thiamine deficiency |
| T410 |
1143-1162 |
http://purl.bioontology.org/ontology/MESH/D013832 |
denotes |
thiamine deficiency |
| T411 |
1595-1614 |
http://purl.bioontology.org/ontology/MESH/D013832 |
denotes |
thiamine deficiency |
| T412 |
1143-1162 |
http://purl.bioontology.org/ontology/ICD10/E51 |
denotes |
thiamine deficiency |
| T413 |
1595-1614 |
http://purl.bioontology.org/ontology/ICD10/E51 |
denotes |
thiamine deficiency |
| T414 |
1143-1151 |
http://purl.bioontology.org/ontology/MEDDRA/10058787 |
denotes |
thiamine |
| T415 |
1595-1603 |
http://purl.bioontology.org/ontology/MEDDRA/10058787 |
denotes |
thiamine |
| T416 |
1701-1709 |
http://purl.bioontology.org/ontology/MEDDRA/10058787 |
denotes |
thiamine |
| T417 |
1143-1151 |
http://purl.bioontology.org/ontology/NDFRT/N0000029453 |
denotes |
thiamine |
| T418 |
1595-1603 |
http://purl.bioontology.org/ontology/NDFRT/N0000029453 |
denotes |
thiamine |
| T419 |
1701-1709 |
http://purl.bioontology.org/ontology/NDFRT/N0000029453 |
denotes |
thiamine |
| T420 |
1143-1151 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C874 |
denotes |
thiamine |
| T421 |
1595-1603 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C874 |
denotes |
thiamine |
| T422 |
1701-1709 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C874 |
denotes |
thiamine |
| T423 |
1143-1151 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039840 |
denotes |
thiamine |
| T424 |
1595-1603 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039840 |
denotes |
thiamine |
| T425 |
1701-1709 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039840 |
denotes |
thiamine |
| T426 |
1143-1151 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74896 |
denotes |
thiamine |
| T427 |
1595-1603 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74896 |
denotes |
thiamine |
| T428 |
1701-1709 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74896 |
denotes |
thiamine |
| T429 |
1143-1151 |
http://purl.bioontology.org/ontology/MESH/D013831 |
denotes |
thiamine |
| T430 |
1595-1603 |
http://purl.bioontology.org/ontology/MESH/D013831 |
denotes |
thiamine |
| T431 |
1701-1709 |
http://purl.bioontology.org/ontology/MESH/D013831 |
denotes |
thiamine |
| T432 |
1143-1151 |
http://purl.bioontology.org/ontology/NDFRT/N0000145862 |
denotes |
thiamine |
| T433 |
1595-1603 |
http://purl.bioontology.org/ontology/NDFRT/N0000145862 |
denotes |
thiamine |
| T434 |
1701-1709 |
http://purl.bioontology.org/ontology/NDFRT/N0000145862 |
denotes |
thiamine |
| T435 |
1152-1162 |
http://purl.bioontology.org/ontology/SNOMEDCT/246199000 |
denotes |
deficiency |
| T436 |
1604-1614 |
http://purl.bioontology.org/ontology/SNOMEDCT/246199000 |
denotes |
deficiency |
| T437 |
1152-1162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94372 |
denotes |
deficiency |
| T438 |
1604-1614 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94372 |
denotes |
deficiency |
| T439 |
1152-1162 |
http://purl.bioontology.org/ontology/MESH/Q000172 |
denotes |
deficiency |
| T440 |
1604-1614 |
http://purl.bioontology.org/ontology/MESH/Q000172 |
denotes |
deficiency |
| T441 |
1173-1178 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48621 |
denotes |
clear |
| T442 |
1173-1178 |
http://purl.bioontology.org/ontology/SNOMEDCT/263707001 |
denotes |
clear |
| T443 |
1179-1190 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25597 |
denotes |
nutritional |
| T444 |
1235-1245 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45826 |
denotes |
homozygous |
| T445 |
1268-1285 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45585 |
denotes |
missense mutation |
| T446 |
1268-1285 |
http://purl.bioontology.org/ontology/MESH/D020125 |
denotes |
missense mutation |
| T447 |
1268-1285 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18133 |
denotes |
missense mutation |
| T448 |
1277-1285 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T449 |
1277-1285 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T450 |
1277-1285 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T451 |
1289-1293 |
http://purl.bioontology.org/ontology/SNOMEDCT/33091005 |
denotes |
exon |
| T452 |
1289-1293 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13231 |
denotes |
exon |
| T453 |
1289-1293 |
http://purl.org/sig/ont/fma/fma84120 |
denotes |
exon |
| T454 |
1299-1303 |
http://purl.obolibrary.org/obo/PR_000017414 |
denotes |
WFS1 |
| T455 |
1684-1688 |
http://purl.obolibrary.org/obo/PR_000017414 |
denotes |
WFS1 |
| T456 |
1329-1337 |
http://purl.bioontology.org/ontology/SNOMEDCT/733985002 |
denotes |
reported |
| T457 |
1329-1337 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
reported |
| T458 |
1375-1385 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54033 |
denotes |
Conclusion |
| T459 |
1375-1385 |
http://purl.obolibrary.org/obo/IAO_0000035 |
denotes |
Conclusion |
| T460 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42608 |
denotes |
application |
| T461 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C60755 |
denotes |
application |
| T462 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70867 |
denotes |
application |
| T467 |
1422-1433 |
http://purl.bioontology.org/ontology/SNOMEDCT/410618006 |
denotes |
application |
| T468 |
1422-1433 |
http://purl.bioontology.org/ontology/SNOMEDCT/410619003 |
denotes |
application |
| T469 |
1437-1463 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101293 |
denotes |
next-generation sequencing |
| T470 |
1442-1452 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88214 |
denotes |
generation |
| T471 |
1442-1452 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48151 |
denotes |
generation |
| T472 |
1464-1474 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17187 |
denotes |
technology |
| T473 |
1464-1474 |
http://purl.bioontology.org/ontology/MESH/D013672 |
denotes |
technology |
| T474 |
1479-1486 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71607 |
denotes |
enhance |
| T475 |
1491-1500 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15220 |
denotes |
diagnosis |
| T476 |
1491-1500 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154625 |
denotes |
diagnosis |
| T477 |
1491-1500 |
http://purl.bioontology.org/ontology/MESH/Q000175 |
denotes |
diagnosis |
| T478 |
1491-1500 |
http://purl.obolibrary.org/obo/OGMS_0000073 |
denotes |
diagnosis |
| T479 |
1491-1500 |
http://purl.bioontology.org/ontology/SNOMEDCT/439401001 |
denotes |
diagnosis |
| T480 |
1491-1500 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49653 |
denotes |
diagnosis |
| T481 |
1491-1500 |
http://purl.bioontology.org/ontology/MESH/D003933 |
denotes |
diagnosis |
| T482 |
1504-1512 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T483 |
1791-1799 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T484 |
1531-1535 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T485 |
1531-1535 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T486 |
1531-1535 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T487 |
1536-1553 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247 |
denotes |
genetic disorders |
| T488 |
1572-1579 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61036 |
denotes |
finding |
| T489 |
1572-1579 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C76124 |
denotes |
finding |
| T490 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T491 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T492 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T493 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T494 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T495 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T496 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T497 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T498 |
1572-1579 |
http://purl.bioontology.org/ontology/STY/T033 |
denotes |
finding |
| T499 |
1572-1579 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3367 |
denotes |
finding |
| T500 |
1583-1594 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126655 |
denotes |
unexplained |
| T501 |
1661-1670 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62230 |
denotes |
potential |
| T502 |
1671-1675 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19470 |
denotes |
link |
| T503 |
1671-1675 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47919 |
denotes |
link |
| T504 |
1701-1720 |
http://purl.obolibrary.org/obo/GO_0006772 |
denotes |
thiamine metabolism |
| T505 |
1701-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38873 |
denotes |
thiamine metabolism |
| T506 |
1710-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19536 |
denotes |
metabolism |
| T507 |
1710-1720 |
http://purl.obolibrary.org/obo/GO_0008152 |
denotes |
metabolism |
| T508 |
1710-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25739 |
denotes |
metabolism |
| T509 |
1710-1720 |
http://purl.bioontology.org/ontology/NDFRT/N0000000023 |
denotes |
metabolism |
| T510 |
1710-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16842 |
denotes |
metabolism |
| T511 |
1710-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18611 |
denotes |
metabolism |
| T512 |
1710-1720 |
http://purl.bioontology.org/ontology/MESH/Q000378 |
denotes |
metabolism |
| T513 |
1710-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21198 |
denotes |
metabolism |
| T514 |
1710-1720 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79371 |
denotes |
metabolism |
| T515 |
1710-1720 |
http://purl.bioontology.org/ontology/SNOMEDCT/47722004 |
denotes |
metabolism |
| T516 |
1710-1720 |
http://purl.bioontology.org/ontology/MESH/D008660 |
denotes |
metabolism |
| T517 |
1751-1770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15931 |
denotes |
clinical management |
| T518 |
1760-1770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48905 |
denotes |
management |
| T519 |
1760-1770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97639 |
denotes |
management |
| T520 |
1760-1770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61372 |
denotes |
management |
| T463 |
1422-1433 |
http://purl.bioontology.org/ontology/SNOMEDCT/413568008 |
denotes |
application |
| T464 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70868 |
denotes |
application |
| T465 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C149348 |
denotes |
application |
| T466 |
1422-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25397 |
denotes |
application |