| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
Whole-exome sequencing |
| T6 |
6-11 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T9 |
6-11 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T2 |
6-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T12 |
12-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T16 |
12-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T20 |
12-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T28 |
34-41 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
| T24 |
34-50 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93106 |
denotes |
de novo mutation |
| T26 |
34-50 |
http://purl.bioontology.org/ontology/OMIM/MTHU036578 |
denotes |
de novo mutation |
| T31 |
42-50 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T38 |
42-50 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T46 |
42-50 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T54 |
58-64 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 |
| T62 |
58-64 |
http://purl.obolibrary.org/obo/PR_000003264 |
denotes |
COL1A1 |
| T67 |
58-64 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C30013 |
denotes |
COL1A1 |
| T53 |
58-69 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 gene |
| T72 |
65-69 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T77 |
65-69 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T82 |
65-69 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T87 |
65-69 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T92 |
65-69 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T97 |
86-92 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
| T100 |
86-92 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
| T103 |
86-92 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
| T106 |
86-92 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
| T109 |
86-92 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
| T112 |
86-92 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
| T125 |
93-105 |
http://purl.obolibrary.org/obo/GO_0001503 |
denotes |
osteogenesis |
| T127 |
93-105 |
http://purl.bioontology.org/ontology/MESH/D010012 |
denotes |
osteogenesis |
| T115 |
93-116 |
http://purl.bioontology.org/ontology/MEDDRA/10031243 |
denotes |
osteogenesis imperfecta |
| T117 |
93-116 |
http://purl.bioontology.org/ontology/MESH/D010013 |
denotes |
osteogenesis imperfecta |
| T119 |
93-116 |
http://purl.bioontology.org/ontology/ICD10/Q78.0 |
denotes |
osteogenesis imperfecta |
| T121 |
93-116 |
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 |
denotes |
osteogenesis imperfecta |
| T123 |
93-116 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837 |
denotes |
osteogenesis imperfecta |
| T129 |
128-138 |
http://purl.obolibrary.org/obo/IAO_0000316 |
denotes |
Background |
| T130 |
128-138 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45782 |
denotes |
Background |
| T126 |
139-151 |
http://purl.obolibrary.org/obo/GO_0001503 |
denotes |
Osteogenesis |
| T128 |
139-151 |
http://purl.bioontology.org/ontology/MESH/D010012 |
denotes |
Osteogenesis |
| T116 |
139-162 |
http://purl.bioontology.org/ontology/MEDDRA/10031243 |
denotes |
Osteogenesis imperfecta |
| T118 |
139-162 |
http://purl.bioontology.org/ontology/MESH/D010013 |
denotes |
Osteogenesis imperfecta |
| T120 |
139-162 |
http://purl.bioontology.org/ontology/ICD10/Q78.0 |
denotes |
Osteogenesis imperfecta |
| T122 |
139-162 |
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 |
denotes |
Osteogenesis imperfecta |
| T124 |
139-162 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837 |
denotes |
Osteogenesis imperfecta |
| T131 |
207-220 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28359 |
denotes |
heterogeneous |
| T132 |
207-220 |
http://purl.bioontology.org/ontology/OMIM/MTHU008384 |
denotes |
heterogeneous |
| T133 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T134 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T135 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T136 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T137 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T138 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T139 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T140 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T141 |
221-226 |
http://purl.bioontology.org/ontology/STY/T096 |
denotes |
group |
| T142 |
221-226 |
http://purl.bioontology.org/ontology/SNOMEDCT/389109008 |
denotes |
group |
| T143 |
221-226 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38027 |
denotes |
group |
| T144 |
221-226 |
http://purl.bioontology.org/ontology/SNOMEDCT/246261001 |
denotes |
group |
| T145 |
221-226 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17005 |
denotes |
group |
| T146 |
221-226 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43359 |
denotes |
group |
| T147 |
221-226 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42684 |
denotes |
group |
| T148 |
221-226 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42685 |
denotes |
group |
| T158 |
230-240 |
http://purl.obolibrary.org/obo/PO_0009068 |
denotes |
connective |
| T152 |
230-247 |
http://purl.org/sig/ont/fma/fma9640 |
denotes |
connective tissue |
| T153 |
230-247 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23309 |
denotes |
connective tissue |
| T154 |
230-247 |
http://purl.bioontology.org/ontology/SNOMEDCT/181769001 |
denotes |
connective tissue |
| T155 |
230-247 |
http://purl.bioontology.org/ontology/SNOMEDCT/21793004 |
denotes |
connective tissue |
| T156 |
230-247 |
http://purl.bioontology.org/ontology/MESH/D003238 |
denotes |
connective tissue |
| T157 |
230-247 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12374 |
denotes |
connective tissue |
| T149 |
230-257 |
http://purl.bioontology.org/ontology/MEDDRA/10010760 |
denotes |
connective tissue disorders |
| T150 |
230-257 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26729 |
denotes |
connective tissue disorders |
| T151 |
230-257 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0009782 |
denotes |
connective tissue disorders |
| T159 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T160 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T161 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T162 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T163 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T164 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T165 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T166 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T167 |
241-247 |
http://purl.bioontology.org/ontology/STY/T024 |
denotes |
tissue |
| T168 |
241-247 |
http://purl.bioontology.org/ontology/MESH/D014024 |
denotes |
tissue |
| T169 |
241-247 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C33177 |
denotes |
tissue |
| T170 |
241-247 |
http://purl.obolibrary.org/obo/UBERON_0000479 |
denotes |
tissue |
| T171 |
241-247 |
http://purl.org/sig/ont/fma/fma9637 |
denotes |
tissue |
| T172 |
241-247 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12801 |
denotes |
tissue |
| T173 |
241-247 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12801 |
denotes |
tissue |
| T174 |
241-247 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23732 |
denotes |
tissue |
| T175 |
248-257 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T178 |
259-272 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterized |
| T182 |
280-284 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23301 |
denotes |
bone |
| T184 |
280-284 |
http://purl.org/sig/ont/fma/fma30317 |
denotes |
bone |
| T186 |
280-284 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12366 |
denotes |
bone |
| T179 |
280-289 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0005938 |
denotes |
bone mass |
| T180 |
280-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61545 |
denotes |
bone mass |
| T181 |
280-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96950 |
denotes |
bone mass |
| T188 |
285-289 |
http://purl.bioontology.org/ontology/MEDDRA/10026865 |
denotes |
mass |
| T189 |
285-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43246 |
denotes |
mass |
| T190 |
285-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126027 |
denotes |
mass |
| T191 |
285-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28272 |
denotes |
mass |
| T192 |
285-289 |
http://purl.bioontology.org/ontology/SNOMEDCT/4147007 |
denotes |
mass |
| T193 |
285-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43521 |
denotes |
mass |
| T194 |
285-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75337 |
denotes |
mass |
| T195 |
285-289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34808 |
denotes |
mass |
| T196 |
285-289 |
http://purl.obolibrary.org/obo/PATO_0000125 |
denotes |
mass |
| T197 |
285-289 |
http://purl.bioontology.org/ontology/SNOMEDCT/118538004 |
denotes |
mass |
| T199 |
291-300 |
http://purl.bioontology.org/ontology/SNOMEDCT/35105006 |
denotes |
increased |
| T200 |
291-300 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increased |
| T198 |
291-315 |
http://purl.bioontology.org/ontology/OMIM/MTHU018904 |
denotes |
increased bone fragility |
| T183 |
301-305 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23301 |
denotes |
bone |
| T185 |
301-305 |
http://purl.org/sig/ont/fma/fma30317 |
denotes |
bone |
| T187 |
301-305 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12366 |
denotes |
bone |
| T201 |
301-315 |
http://purl.bioontology.org/ontology/OMIM/MTHU004628 |
denotes |
bone fragility |
| T202 |
306-315 |
http://purl.bioontology.org/ontology/SNOMEDCT/59955000 |
denotes |
fragility |
| T203 |
321-325 |
http://purl.bioontology.org/ontology/SNOMEDCT/84614006 |
denotes |
blue |
| T204 |
321-325 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48333 |
denotes |
blue |
| T205 |
321-325 |
http://purl.bioontology.org/ontology/SNOMEDCT/405738005 |
denotes |
blue |
| T206 |
326-330 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18063 |
denotes |
gray |
| T207 |
326-330 |
http://purl.bioontology.org/ontology/SNOMEDCT/229029004 |
denotes |
gray |
| T208 |
326-330 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48324 |
denotes |
gray |
| T209 |
331-334 |
http://purl.org/sig/ont/fma/fma54448 |
denotes |
eye |
| T210 |
331-334 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23336 |
denotes |
eye |
| T211 |
331-334 |
http://purl.bioontology.org/ontology/MESH/D005123 |
denotes |
eye |
| T212 |
331-334 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12401 |
denotes |
eye |
| T213 |
335-341 |
http://purl.org/sig/ont/fma/fma58269 |
denotes |
sclera |
| T214 |
335-341 |
http://purl.bioontology.org/ontology/MESH/D012590 |
denotes |
sclera |
| T215 |
335-341 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12784 |
denotes |
sclera |
| T216 |
335-341 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23715 |
denotes |
sclera |
| T39 |
374-383 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T217 |
408-415 |
http://purl.bioontology.org/ontology/SNOMEDCT/346464005 |
denotes |
glycine |
| T218 |
408-415 |
http://purl.org/sig/ont/fma/fma82753 |
denotes |
glycine |
| T219 |
408-415 |
http://purl.bioontology.org/ontology/NDDF/000929 |
denotes |
glycine |
| T220 |
408-415 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C524 |
denotes |
glycine |
| T222 |
408-415 |
http://purl.bioontology.org/ontology/MESH/D005998 |
denotes |
glycine |
| T223 |
408-415 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122122 |
denotes |
glycine |
| T225 |
408-415 |
http://purl.bioontology.org/ontology/NDFRT/N0000146327 |
denotes |
glycine |
| T226 |
408-415 |
http://purl.bioontology.org/ontology/SNOMEDCT/15331006 |
denotes |
glycine |
| T221 |
440-443 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C524 |
denotes |
Gly |
| T224 |
440-443 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122122 |
denotes |
Gly |
| T227 |
448-456 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43465 |
denotes |
sequence |
| T228 |
448-456 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89252 |
denotes |
sequence |
| T229 |
448-456 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13299 |
denotes |
sequence |
| T230 |
448-456 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25673 |
denotes |
sequence |
| T231 |
448-456 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45374 |
denotes |
sequence |
| T232 |
448-456 |
http://purl.obolibrary.org/obo/SO_0000001 |
denotes |
sequence |
| T234 |
472-478 |
http://purl.bioontology.org/ontology/SNOMEDCT/76070002 |
denotes |
triple |
| T233 |
487-493 |
http://purl.obolibrary.org/obo/SO_0000001 |
denotes |
region |
| T236 |
487-493 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13379 |
denotes |
region |
| T238 |
487-493 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16632 |
denotes |
region |
| T239 |
487-493 |
http://purl.bioontology.org/ontology/SNOMEDCT/410673009 |
denotes |
region |
| T240 |
487-493 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41129 |
denotes |
region |
| T249 |
501-509 |
http://purl.bioontology.org/ontology/MESH/D003094 |
denotes |
collagen |
| T251 |
501-509 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16447 |
denotes |
collagen |
| T253 |
501-509 |
http://purl.bioontology.org/ontology/SNOMEDCT/350476009 |
denotes |
collagen |
| T255 |
501-509 |
http://purl.org/sig/ont/fma/fma63891 |
denotes |
collagen |
| T257 |
501-509 |
http://purl.obolibrary.org/obo/GO_0005202 |
denotes |
collagen |
| T259 |
501-509 |
http://purl.bioontology.org/ontology/SNOMEDCT/61472002 |
denotes |
collagen |
| T261 |
501-509 |
http://purl.bioontology.org/ontology/NDFRT/N0000006771 |
denotes |
collagen |
| T241 |
501-516 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124129 |
denotes |
collagen type I |
| T243 |
501-516 |
http://purl.bioontology.org/ontology/MESH/D024042 |
denotes |
collagen type I |
| T245 |
501-516 |
http://purl.bioontology.org/ontology/SNOMEDCT/58520002 |
denotes |
collagen type I |
| T247 |
501-516 |
http://purl.org/sig/ont/fma/fma63892 |
denotes |
collagen type I |
| T263 |
510-514 |
http://purl.bioontology.org/ontology/SNOMEDCT/410656007 |
denotes |
type |
| T265 |
510-514 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25284 |
denotes |
type |
| T267 |
519-524 |
http://purl.bioontology.org/ontology/SNOMEDCT/46666003 |
denotes |
chain |
| T269 |
519-524 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41207 |
denotes |
chain |
| T271 |
535-542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80216 |
denotes |
encoded |
| T56 |
550-556 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 |
| T63 |
550-556 |
http://purl.obolibrary.org/obo/PR_000003264 |
denotes |
COL1A1 |
| T68 |
550-556 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C30013 |
denotes |
COL1A1 |
| T55 |
550-561 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 gene |
| T73 |
557-561 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T78 |
557-561 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T83 |
557-561 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T88 |
557-561 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T93 |
557-561 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T272 |
567-570 |
http://purl.obolibrary.org/obo/PR_Q9QWK4 |
denotes |
aim |
| T273 |
567-570 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119714 |
denotes |
aim |
| T274 |
567-570 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104076 |
denotes |
aim |
| T275 |
567-570 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9931 |
denotes |
aim |
| T276 |
567-570 |
http://purl.obolibrary.org/obo/PR_000005174 |
denotes |
aim |
| T277 |
567-570 |
http://purl.obolibrary.org/obo/PR_000001343 |
denotes |
aim |
| T278 |
567-570 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104680 |
denotes |
aim |
| T279 |
567-570 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104075 |
denotes |
aim |
| T280 |
567-570 |
http://purl.obolibrary.org/obo/PR_000006606 |
denotes |
aim |
| T281 |
567-570 |
http://purl.obolibrary.org/obo/PR_Q92072 |
denotes |
aim |
| T282 |
567-570 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C60761 |
denotes |
aim |
| T283 |
586-591 |
http://purl.obolibrary.org/obo/OBI_0000073 |
denotes |
study |
| T285 |
586-591 |
http://purl.bioontology.org/ontology/SNOMEDCT/224699009 |
denotes |
study |
| T287 |
586-591 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319 |
denotes |
study |
| T289 |
586-591 |
http://purl.obolibrary.org/obo/OBI_0000066 |
denotes |
study |
| T291 |
586-591 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537 |
denotes |
study |
| T293 |
586-591 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206 |
denotes |
study |
| T295 |
586-591 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536 |
denotes |
study |
| T297 |
611-620 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
| T299 |
611-620 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
| T301 |
611-620 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
| T303 |
611-620 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
| T305 |
630-637 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T307 |
630-637 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T309 |
630-637 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T311 |
630-637 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T315 |
644-649 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T313 |
644-658 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93104 |
denotes |
novel mutation |
| T32 |
650-658 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T40 |
650-658 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T47 |
650-658 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T318 |
660-667 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86056 |
denotes |
causing |
| T320 |
660-667 |
http://purl.bioontology.org/ontology/SNOMEDCT/23981006 |
denotes |
causing |
| T322 |
668-675 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25471 |
denotes |
current |
| T323 |
668-675 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48434 |
denotes |
current |
| T324 |
668-675 |
http://purl.bioontology.org/ontology/SNOMEDCT/15240007 |
denotes |
current |
| T298 |
676-685 |
http://purl.obolibrary.org/obo/OGMS_0000023 |
denotes |
phenotype |
| T300 |
676-685 |
http://purl.bioontology.org/ontology/SNOMEDCT/8116006 |
denotes |
phenotype |
| T302 |
676-685 |
http://purl.bioontology.org/ontology/MESH/D010641 |
denotes |
phenotype |
| T304 |
676-685 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977 |
denotes |
phenotype |
| T325 |
699-705 |
http://purl.bioontology.org/ontology/SNOMEDCT/229059009 |
denotes |
report |
| T327 |
699-705 |
http://purl.obolibrary.org/obo/IAO_0000088 |
denotes |
report |
| T329 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
report |
| T331 |
699-705 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97107 |
denotes |
report |
| T29 |
721-728 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
| T57 |
729-735 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 |
| T64 |
729-735 |
http://purl.obolibrary.org/obo/PR_000003264 |
denotes |
COL1A1 |
| T69 |
729-735 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C30013 |
denotes |
COL1A1 |
| T33 |
736-744 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T41 |
736-744 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T48 |
736-744 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T306 |
750-757 |
http://purl.bioontology.org/ontology/SNOMEDCT/116154003 |
denotes |
patient |
| T308 |
750-757 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patient |
| T310 |
750-757 |
http://purl.obolibrary.org/obo/OBI_0000093 |
denotes |
patient |
| T312 |
750-757 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53691 |
denotes |
patient |
| T333 |
750-766 |
http://purl.bioontology.org/ontology/SNOMEDCT/103309006 |
denotes |
patient affected |
| T98 |
770-776 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
| T101 |
770-776 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
| T104 |
770-776 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
| T107 |
770-776 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
| T110 |
770-776 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
| T113 |
770-776 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
| T3 |
802-824 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
whole-exome sequencing |
| T10 |
808-813 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T7 |
808-813 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T4 |
808-824 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T13 |
814-824 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T17 |
814-824 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T21 |
814-824 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T334 |
830-834 |
http://purl.obolibrary.org/obo/PR_000034142 |
denotes |
case |
| T335 |
830-834 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99269 |
denotes |
case |
| T336 |
830-834 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62414 |
denotes |
case |
| T337 |
830-834 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
case |
| T338 |
830-834 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43184 |
denotes |
case |
| T339 |
830-834 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49152 |
denotes |
case |
| T340 |
848-852 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C30129 |
denotes |
trio |
| T341 |
848-852 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21474 |
denotes |
trio |
| T342 |
848-852 |
http://purl.obolibrary.org/obo/PR_000016668 |
denotes |
trio |
| T343 |
857-867 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
| T344 |
857-867 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
| T316 |
870-875 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T345 |
876-888 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45825 |
denotes |
heterozygous |
| T346 |
901-918 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45585 |
denotes |
missense mutation |
| T348 |
901-918 |
http://purl.bioontology.org/ontology/MESH/D020125 |
denotes |
missense mutation |
| T350 |
901-918 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18133 |
denotes |
missense mutation |
| T34 |
910-918 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T42 |
910-918 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T49 |
910-918 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T59 |
926-932 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 |
| T65 |
926-932 |
http://purl.obolibrary.org/obo/PR_000003264 |
denotes |
COL1A1 |
| T70 |
926-932 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C30013 |
denotes |
COL1A1 |
| T58 |
926-937 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 gene |
| T74 |
933-937 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T79 |
933-937 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T84 |
933-937 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T89 |
933-937 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T94 |
933-937 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T352 |
966-978 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45591 |
denotes |
transversion |
| T353 |
966-978 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18135 |
denotes |
transversion |
| T235 |
986-992 |
http://purl.bioontology.org/ontology/SNOMEDCT/76070002 |
denotes |
triple |
| T237 |
1001-1007 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13379 |
denotes |
domain |
| T354 |
1001-1007 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49556 |
denotes |
domain |
| T355 |
1001-1007 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62706 |
denotes |
domain |
| T356 |
1001-1007 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62289 |
denotes |
domain |
| T357 |
1001-1007 |
http://purl.bioontology.org/ontology/SNOMEDCT/609431004 |
denotes |
domain |
| T358 |
1001-1007 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66734 |
denotes |
domain |
| T250 |
1015-1023 |
http://purl.bioontology.org/ontology/MESH/D003094 |
denotes |
collagen |
| T252 |
1015-1023 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16447 |
denotes |
collagen |
| T254 |
1015-1023 |
http://purl.bioontology.org/ontology/SNOMEDCT/350476009 |
denotes |
collagen |
| T256 |
1015-1023 |
http://purl.org/sig/ont/fma/fma63891 |
denotes |
collagen |
| T258 |
1015-1023 |
http://purl.obolibrary.org/obo/GO_0005202 |
denotes |
collagen |
| T260 |
1015-1023 |
http://purl.bioontology.org/ontology/SNOMEDCT/61472002 |
denotes |
collagen |
| T262 |
1015-1023 |
http://purl.bioontology.org/ontology/NDFRT/N0000006771 |
denotes |
collagen |
| T242 |
1015-1030 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124129 |
denotes |
collagen type I |
| T244 |
1015-1030 |
http://purl.bioontology.org/ontology/MESH/D024042 |
denotes |
collagen type I |
| T246 |
1015-1030 |
http://purl.bioontology.org/ontology/SNOMEDCT/58520002 |
denotes |
collagen type I |
| T248 |
1015-1030 |
http://purl.org/sig/ont/fma/fma63892 |
denotes |
collagen type I |
| T264 |
1024-1028 |
http://purl.bioontology.org/ontology/SNOMEDCT/410656007 |
denotes |
type |
| T266 |
1024-1028 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25284 |
denotes |
type |
| T268 |
1033-1038 |
http://purl.bioontology.org/ontology/SNOMEDCT/46666003 |
denotes |
chain |
| T270 |
1033-1038 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41207 |
denotes |
chain |
| T360 |
1044-1052 |
http://purl.bioontology.org/ontology/SNOMEDCT/386397008 |
denotes |
presence |
| T361 |
1044-1052 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25626 |
denotes |
presence |
| T362 |
1044-1052 |
http://purl.bioontology.org/ontology/SNOMEDCT/705057003 |
denotes |
presence |
| T359 |
1044-1055 |
http://purl.bioontology.org/ontology/SNOMEDCT/52101004 |
denotes |
presence of |
| T347 |
1060-1077 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45585 |
denotes |
missense mutation |
| T349 |
1060-1077 |
http://purl.bioontology.org/ontology/MESH/D020125 |
denotes |
missense mutation |
| T351 |
1060-1077 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18133 |
denotes |
missense mutation |
| T35 |
1069-1077 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T43 |
1069-1077 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T50 |
1069-1077 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T363 |
1082-1091 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25458 |
denotes |
confirmed |
| T364 |
1101-1118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19641 |
denotes |
Sanger sequencing |
| T365 |
1101-1118 |
http://purl.obolibrary.org/obo/OBI_0000695 |
denotes |
Sanger sequencing |
| T14 |
1108-1118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T18 |
1108-1118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T22 |
1108-1118 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T326 |
1144-1150 |
http://purl.bioontology.org/ontology/SNOMEDCT/229059009 |
denotes |
report |
| T328 |
1144-1150 |
http://purl.obolibrary.org/obo/IAO_0000088 |
denotes |
report |
| T330 |
1144-1150 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
report |
| T332 |
1144-1150 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97107 |
denotes |
report |
| T317 |
1153-1158 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T314 |
1153-1167 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93104 |
denotes |
novel mutation |
| T36 |
1159-1167 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T44 |
1159-1167 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T51 |
1159-1167 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T61 |
1175-1181 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 |
| T66 |
1175-1181 |
http://purl.obolibrary.org/obo/PR_000003264 |
denotes |
COL1A1 |
| T71 |
1175-1181 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C30013 |
denotes |
COL1A1 |
| T60 |
1175-1186 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C29949 |
denotes |
COL1A1 gene |
| T75 |
1182-1186 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T80 |
1182-1186 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T85 |
1182-1186 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T90 |
1182-1186 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T95 |
1182-1186 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T319 |
1187-1194 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86056 |
denotes |
causing |
| T321 |
1187-1194 |
http://purl.bioontology.org/ontology/SNOMEDCT/23981006 |
denotes |
causing |
| T99 |
1195-1201 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395 |
denotes |
severe |
| T102 |
1195-1201 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951 |
denotes |
severe |
| T105 |
1195-1201 |
http://purl.bioontology.org/ontology/SNOMEDCT/24484000 |
denotes |
severe |
| T108 |
1195-1201 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340 |
denotes |
severe |
| T111 |
1195-1201 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244 |
denotes |
severe |
| T114 |
1195-1201 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667 |
denotes |
severe |
| T368 |
1203-1207 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142142 |
denotes |
life |
| T369 |
1203-1207 |
http://purl.bioontology.org/ontology/MESH/D019369 |
denotes |
life |
| T370 |
1203-1207 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20203 |
denotes |
life |
| T366 |
1203-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C82508 |
denotes |
life threatening |
| T367 |
1203-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41337 |
denotes |
life threatening |
| T371 |
1240-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25199 |
denotes |
role |
| T372 |
1240-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42754 |
denotes |
role |
| T373 |
1240-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43643 |
denotes |
role |
| T374 |
1240-1244 |
http://purl.bioontology.org/ontology/MESH/D012380 |
denotes |
role |
| T375 |
1240-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48835 |
denotes |
role |
| T376 |
1240-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42768 |
denotes |
role |
| T377 |
1240-1244 |
http://purl.obolibrary.org/obo/BFO_0000023 |
denotes |
role |
| T378 |
1240-1244 |
http://purl.obolibrary.org/obo/BFO_0000023 |
denotes |
role |
| T30 |
1248-1255 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354 |
denotes |
de novo |
| T25 |
1248-1264 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93106 |
denotes |
de novo mutation |
| T27 |
1248-1264 |
http://purl.bioontology.org/ontology/OMIM/MTHU036578 |
denotes |
de novo mutation |
| T37 |
1256-1264 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 |
denotes |
mutation |
| T45 |
1256-1264 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutation |
| T52 |
1256-1264 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
denotes |
mutation |
| T379 |
1272-1284 |
http://purl.obolibrary.org/obo/GO_0009405 |
denotes |
pathogenesis |
| T380 |
1272-1284 |
http://purl.bioontology.org/ontology/SNOMEDCT/263547006 |
denotes |
pathogenesis |
| T381 |
1272-1284 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18264 |
denotes |
pathogenesis |
| T382 |
1288-1292 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T383 |
1288-1292 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T384 |
1288-1292 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T385 |
1293-1301 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25173 |
denotes |
familial |
| T386 |
1293-1301 |
http://purl.bioontology.org/ontology/SNOMEDCT/255401001 |
denotes |
familial |
| T176 |
1302-1310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
diseases |
| T387 |
1302-1310 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
diseases |
| T284 |
1316-1321 |
http://purl.obolibrary.org/obo/OBI_0000073 |
denotes |
study |
| T286 |
1316-1321 |
http://purl.bioontology.org/ontology/SNOMEDCT/224699009 |
denotes |
study |
| T288 |
1316-1321 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319 |
denotes |
study |
| T290 |
1316-1321 |
http://purl.obolibrary.org/obo/OBI_0000066 |
denotes |
study |
| T292 |
1316-1321 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537 |
denotes |
study |
| T294 |
1316-1321 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206 |
denotes |
study |
| T296 |
1316-1321 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536 |
denotes |
study |
| T11 |
1351-1356 |
http://purl.bioontology.org/ontology/MESH/D059472 |
denotes |
exome |
| T8 |
1351-1356 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101296 |
denotes |
exome |
| T5 |
1351-1367 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101295 |
denotes |
exome sequencing |
| T15 |
1357-1367 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T19 |
1357-1367 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T23 |
1357-1367 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T177 |
1371-1378 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disease |
| T388 |
1371-1378 |
http://purl.bioontology.org/ontology/MESH/D004194 |
denotes |
disease |
| T389 |
1371-1378 |
http://purl.obolibrary.org/obo/OGMS_0000031 |
denotes |
disease |
| T390 |
1371-1378 |
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 |
denotes |
disease |
| T391 |
1371-1378 |
http://purl.bioontology.org/ontology/NDFRT/N0000000981 |
denotes |
disease |
| T76 |
1379-1383 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
| T81 |
1379-1383 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
| T86 |
1379-1383 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
| T91 |
1379-1383 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
| T96 |
1379-1383 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
| T392 |
1384-1393 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62262 |
denotes |
discovery |
| T393 |
1413-1425 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61300 |
denotes |
conventional |
| T394 |
1413-1425 |
http://purl.bioontology.org/ontology/SNOMEDCT/255333006 |
denotes |
conventional |
| T395 |
1413-1425 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C149409 |
denotes |
conventional |
| T399 |
1426-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15238 |
denotes |
genetic |
| T400 |
1426-1433 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17938 |
denotes |
genetic |
| T396 |
1426-1441 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560 |
denotes |
genetic testing |
| T397 |
1426-1441 |
http://purl.bioontology.org/ontology/MESH/D005820 |
denotes |
genetic testing |
| T398 |
1426-1441 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15709 |
denotes |
genetic testing |
| T401 |
1434-1441 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15336 |
denotes |
testing |
| T402 |
1442-1450 |
http://purl.bioontology.org/ontology/SNOMEDCT/717896003 |
denotes |
does not |
| T403 |
1456-1466 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87050 |
denotes |
conclusive |
| T404 |
1467-1475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43583 |
denotes |
evidence |
