Id |
Subject |
Object |
Predicate |
Lexical cue |
T2 |
849-858 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T3 |
974-983 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
T5 |
866-871 |
http://purl.obolibrary.org/obo/PR_000005646 |
denotes |
CNNM4 |
T6 |
1119-1124 |
http://purl.obolibrary.org/obo/PR_000005646 |
denotes |
Cnnm4 |
T7 |
1307-1312 |
http://purl.obolibrary.org/obo/PR_000005646 |
denotes |
CNNM4 |
T10 |
774-789 |
http://purl.bioontology.org/ontology/MESH/C000596385 |
denotes |
Jalili syndrome |
T11 |
1339-1354 |
http://purl.bioontology.org/ontology/MESH/C000596385 |
denotes |
Jalili syndrome |
T14 |
774-789 |
http://purl.bioontology.org/ontology/OMIM/217080 |
denotes |
Jalili syndrome |
T15 |
1339-1354 |
http://purl.bioontology.org/ontology/OMIM/217080 |
denotes |
Jalili syndrome |
T17 |
774-789 |
http://purl.bioontology.org/ontology/SNOMEDCT/707608003 |
denotes |
Jalili syndrome |
T18 |
1339-1354 |
http://purl.bioontology.org/ontology/SNOMEDCT/707608003 |
denotes |
Jalili syndrome |
T20 |
598-606 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T21 |
781-789 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T22 |
1346-1354 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
syndrome |
T24 |
598-606 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T25 |
781-789 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T26 |
1346-1354 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
syndrome |
T29 |
175-193 |
http://purl.bioontology.org/ontology/OMIM/MTHU001509 |
denotes |
cone-rod dystrophy |
T31 |
175-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12637 |
denotes |
cone |
T33 |
175-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42900 |
denotes |
cone |
T35 |
175-179 |
http://purl.bioontology.org/ontology/SNOMEDCT/69059007 |
denotes |
cone |
T37 |
175-179 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70849 |
denotes |
cone |
T39 |
180-193 |
http://purl.bioontology.org/ontology/SNOMEDCT/313003009 |
denotes |
rod dystrophy |
T41 |
180-183 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71241 |
denotes |
rod |
T43 |
180-183 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12638 |
denotes |
rod |
T45 |
180-183 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114827 |
denotes |
rod |
T47 |
180-183 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50153 |
denotes |
rod |
T49 |
180-183 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71240 |
denotes |
rod |
T51 |
180-183 |
http://purl.obolibrary.org/obo/PR_000009431 |
denotes |
rod |
T53 |
180-183 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64352 |
denotes |
rod |
T55 |
184-193 |
http://purl.bioontology.org/ontology/SNOMEDCT/4720007 |
denotes |
dystrophy |
T57 |
204-227 |
http://purl.bioontology.org/ontology/MESH/D000567 |
denotes |
amelogenesis imperfecta |
T59 |
204-227 |
http://purl.bioontology.org/ontology/OMIM/MTHU037342 |
denotes |
amelogenesis imperfecta |
T61 |
204-227 |
http://purl.bioontology.org/ontology/SNOMEDCT/78494001 |
denotes |
amelogenesis imperfecta |
T63 |
204-216 |
http://purl.bioontology.org/ontology/MESH/D000566 |
denotes |
amelogenesis |
T65 |
204-216 |
http://purl.obolibrary.org/obo/GO_0097186 |
denotes |
amelogenesis |
T66 |
138-149 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61517 |
denotes |
combination |
T67 |
138-149 |
http://purl.bioontology.org/ontology/SNOMEDCT/89780004 |
denotes |
combination |
T68 |
165-174 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28018 |
denotes |
inherited |
T69 |
195-198 |
http://purl.bioontology.org/ontology/OMIM/120970 |
denotes |
CRD |
T70 |
474-477 |
http://purl.bioontology.org/ontology/OMIM/120970 |
denotes |
CRD |
T71 |
1383-1386 |
http://purl.bioontology.org/ontology/OMIM/120970 |
denotes |
CRD |
T72 |
243-254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53461 |
denotes |
reported by |
T73 |
243-251 |
http://purl.bioontology.org/ontology/SNOMEDCT/733985002 |
denotes |
reported |
T74 |
365-373 |
http://purl.bioontology.org/ontology/SNOMEDCT/733985002 |
denotes |
reported |
T75 |
243-251 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
reported |
T76 |
365-373 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375 |
denotes |
reported |
T77 |
266-271 |
http://purl.bioontology.org/ontology/SNOMEDCT/308323009 |
denotes |
Smith |
T78 |
285-291 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79273 |
denotes |
family |
T79 |
392-398 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C79273 |
denotes |
family |
T80 |
285-291 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45290 |
denotes |
family |
T81 |
392-398 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45290 |
denotes |
family |
T82 |
285-291 |
http://purl.bioontology.org/ontology/SNOMEDCT/35359004 |
denotes |
family |
T83 |
392-398 |
http://purl.bioontology.org/ontology/SNOMEDCT/35359004 |
denotes |
family |
T84 |
285-291 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25173 |
denotes |
family |
T85 |
392-398 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25173 |
denotes |
family |
T86 |
285-291 |
http://purl.bioontology.org/ontology/MESH/D005190 |
denotes |
family |
T87 |
392-398 |
http://purl.bioontology.org/ontology/MESH/D005190 |
denotes |
family |
T88 |
317-322 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45822 |
denotes |
locus |
T89 |
326-336 |
http://purl.bioontology.org/ontology/MESH/D002875 |
denotes |
chromosome |
T90 |
326-336 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13202 |
denotes |
chromosome |
T91 |
326-336 |
http://purl.bioontology.org/ontology/SNOMEDCT/91272006 |
denotes |
chromosome |
T92 |
326-336 |
http://purl.org/sig/ont/fma/fma67093 |
denotes |
chromosome |
T93 |
326-336 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
T94 |
326-336 |
http://purl.obolibrary.org/obo/GO_0005694 |
denotes |
chromosome |
T95 |
379-385 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42535 |
denotes |
second |
T96 |
379-385 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25666 |
denotes |
second |
T97 |
379-385 |
http://purl.bioontology.org/ontology/SNOMEDCT/81170007 |
denotes |
second |
T98 |
379-385 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49463 |
denotes |
second |
T99 |
379-385 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68861 |
denotes |
second |
T100 |
386-391 |
http://purl.bioontology.org/ontology/SNOMEDCT/255507004 |
denotes |
small |
T101 |
386-391 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25376 |
denotes |
small |
T102 |
408-418 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
T103 |
838-848 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
T104 |
408-418 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
T105 |
838-848 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
T106 |
1289-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identification |
T107 |
443-450 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62263 |
denotes |
diverse |
T108 |
497-513 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterization |
T109 |
1356-1369 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62606 |
denotes |
characterized |
T110 |
517-522 |
http://purl.org/sig/ont/fma/fma314001 |
denotes |
teeth |
T111 |
517-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23440 |
denotes |
teeth |
T112 |
1183-1188 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23440 |
denotes |
tooth |
T113 |
1239-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23440 |
denotes |
tooth |
T114 |
517-522 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12506 |
denotes |
teeth |
T115 |
1183-1188 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12506 |
denotes |
tooth |
T116 |
1239-1244 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12506 |
denotes |
tooth |
T117 |
517-522 |
http://purl.bioontology.org/ontology/SNOMEDCT/245543004 |
denotes |
teeth |
T118 |
517-522 |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0040426 |
denotes |
teeth |
T119 |
517-522 |
http://purl.bioontology.org/ontology/MESH/D014070 |
denotes |
teeth |
T120 |
1183-1188 |
http://purl.bioontology.org/ontology/MESH/D014070 |
denotes |
tooth |
T121 |
1239-1244 |
http://purl.bioontology.org/ontology/MESH/D014070 |
denotes |
tooth |
T122 |
517-522 |
http://purl.bioontology.org/ontology/OMIM/MTHU000055 |
denotes |
teeth |
T123 |
527-542 |
http://purl.bioontology.org/ontology/SNOMEDCT/281004000 |
denotes |
visual function |
T124 |
1475-1490 |
http://purl.bioontology.org/ontology/SNOMEDCT/281004000 |
denotes |
visual function |
T125 |
527-533 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38059 |
denotes |
visual |
T126 |
1475-1481 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38059 |
denotes |
visual |
T127 |
527-533 |
http://purl.bioontology.org/ontology/SNOMEDCT/255374006 |
denotes |
visual |
T128 |
1475-1481 |
http://purl.bioontology.org/ontology/SNOMEDCT/255374006 |
denotes |
visual |
T129 |
534-542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T130 |
1275-1283 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T131 |
1482-1490 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
function |
T132 |
534-542 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T133 |
1275-1283 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T134 |
1482-1490 |
http://purl.bioontology.org/ontology/SNOMEDCT/277064003 |
denotes |
function |
T135 |
534-542 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T136 |
1275-1283 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T137 |
1482-1490 |
http://purl.bioontology.org/ontology/MESH/Q000502 |
denotes |
function |
T138 |
534-542 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T139 |
1275-1283 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T140 |
1482-1490 |
http://purl.bioontology.org/ontology/SNOMEDCT/246464006 |
denotes |
function |
T141 |
534-542 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T142 |
1275-1283 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T143 |
1482-1490 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54025 |
denotes |
function |
T144 |
534-542 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T145 |
1275-1283 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T146 |
1482-1490 |
http://purl.obolibrary.org/obo/BFO_0000034 |
denotes |
function |
T147 |
550-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48669 |
denotes |
published |
T148 |
550-559 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19026 |
denotes |
published |
T149 |
587-597 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T150 |
650-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent with |
T151 |
650-660 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85901 |
denotes |
consistent |
T152 |
638-642 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19470 |
denotes |
link |
T153 |
638-642 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47919 |
denotes |
link |
T154 |
650-665 |
http://purl.bioontology.org/ontology/SNOMEDCT/385433004 |
denotes |
consistent with |
T155 |
666-673 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94542 |
denotes |
linkage |
T156 |
736-745 |
http://purl.bioontology.org/ontology/SNOMEDCT/260905004 |
denotes |
condition |
T157 |
936-945 |
http://purl.bioontology.org/ontology/SNOMEDCT/260905004 |
denotes |
condition |
T158 |
736-745 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154631 |
denotes |
condition |
T159 |
936-945 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154631 |
denotes |
condition |
T160 |
736-745 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47953 |
denotes |
condition |
T161 |
936-945 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C47953 |
denotes |
condition |
T162 |
736-745 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25457 |
denotes |
condition |
T163 |
936-945 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25457 |
denotes |
condition |
T164 |
736-745 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
condition |
T165 |
936-945 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
condition |
T166 |
769-773 |
http://purl.bioontology.org/ontology/OMIM/607416 |
denotes |
call |
T167 |
769-773 |
http://purl.bioontology.org/ontology/SNOMEDCT/420942008 |
denotes |
call |
T168 |
769-773 |
http://purl.obolibrary.org/obo/PR_000005429 |
denotes |
call |
T169 |
769-773 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64924 |
denotes |
call |
T170 |
769-773 |
http://purl.obolibrary.org/obo/PR_P70232 |
denotes |
call |
T171 |
769-773 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53285 |
denotes |
call |
T172 |
810-819 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138079 |
denotes |
candidate |
T173 |
872-876 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
T174 |
1330-1334 |
http://purl.org/sig/ont/fma/fma74402 |
denotes |
gene |
T175 |
872-876 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
T176 |
1330-1334 |
http://purl.bioontology.org/ontology/SNOMEDCT/67271001 |
denotes |
gene |
T177 |
872-876 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
T178 |
1330-1334 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45520 |
denotes |
gene |
T179 |
872-876 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
T180 |
1330-1334 |
http://purl.obolibrary.org/obo/SO_0000704 |
denotes |
gene |
T181 |
872-876 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
T182 |
1330-1334 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
gene |
T183 |
878-886 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80216 |
denotes |
encoding |
T184 |
898-903 |
http://purl.bioontology.org/ontology/SNOMEDCT/425620007 |
denotes |
metal |
T185 |
1456-1461 |
http://purl.bioontology.org/ontology/SNOMEDCT/425620007 |
denotes |
metal |
T186 |
898-903 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C637 |
denotes |
metal |
T187 |
1456-1461 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C637 |
denotes |
metal |
T188 |
904-915 |
http://purl.bioontology.org/ontology/SNOMEDCT/705591009 |
denotes |
transporter |
T189 |
917-927 |
http://purl.bioontology.org/ontology/MESH/D000066 |
denotes |
accounting |
T190 |
1006-1011 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
T191 |
1022-1027 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C66834 |
denotes |
three |
T192 |
1006-1011 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
T193 |
1022-1027 |
http://purl.bioontology.org/ontology/SNOMEDCT/79605009 |
denotes |
three |
T194 |
1046-1051 |
http://purl.obolibrary.org/obo/PR_Q66PG2 |
denotes |
large |
T195 |
1046-1051 |
http://purl.obolibrary.org/obo/PR_Q66PG3 |
denotes |
large |
T196 |
1046-1051 |
http://purl.obolibrary.org/obo/PR_Q9Z1M7 |
denotes |
large |
T197 |
1046-1051 |
http://purl.obolibrary.org/obo/PR_O95461 |
denotes |
large |
T198 |
1046-1051 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49508 |
denotes |
large |
T199 |
1046-1051 |
http://purl.obolibrary.org/obo/PR_000009667 |
denotes |
large |
T200 |
1046-1051 |
http://purl.bioontology.org/ontology/SNOMEDCT/255509001 |
denotes |
large |
T201 |
1069-1075 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48440 |
denotes |
single |
T202 |
1069-1075 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150721 |
denotes |
single |
T203 |
1069-1075 |
http://purl.bioontology.org/ontology/SNOMEDCT/125681006 |
denotes |
single |
T204 |
1076-1080 |
http://purl.bioontology.org/ontology/SNOMEDCT/63813000 |
denotes |
base |
T205 |
1076-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48056 |
denotes |
base |
T206 |
1076-1080 |
http://purl.bioontology.org/ontology/OMIM/607627 |
denotes |
base |
T207 |
1076-1080 |
http://purl.bioontology.org/ontology/SNOMEDCT/418836005 |
denotes |
base |
T208 |
1076-1080 |
http://purl.obolibrary.org/obo/PR_000009685 |
denotes |
base |
T209 |
1076-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C709 |
denotes |
base |
T210 |
1076-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62564 |
denotes |
base |
T211 |
1076-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
base |
T212 |
1076-1080 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C92955 |
denotes |
base |
T213 |
1081-1090 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45588 |
denotes |
insertion |
T214 |
1081-1090 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48685 |
denotes |
insertion |
T215 |
1081-1090 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45518 |
denotes |
insertion |
T216 |
1081-1090 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C149594 |
denotes |
insertion |
T217 |
1081-1090 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19295 |
denotes |
insertion |
T218 |
1095-1104 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25458 |
denotes |
confirmed |
T219 |
1105-1115 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80488 |
denotes |
expression |
T220 |
1105-1115 |
http://purl.bioontology.org/ontology/SNOMEDCT/706999006 |
denotes |
expression |
T221 |
1105-1115 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16608 |
denotes |
expression |
T222 |
1105-1115 |
http://purl.bioontology.org/ontology/SNOMEDCT/10012005 |
denotes |
expression |
T223 |
1132-1145 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C33166 |
denotes |
neural retina |
T224 |
1132-1138 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25363 |
denotes |
neural |
T225 |
1139-1145 |
http://purl.bioontology.org/ontology/MESH/D012160 |
denotes |
retina |
T226 |
1139-1145 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23278 |
denotes |
retina |
T227 |
1139-1145 |
http://purl.org/sig/ont/fma/fma58301 |
denotes |
retina |
T228 |
1139-1145 |
http://purl.bioontology.org/ontology/SNOMEDCT/5665001 |
denotes |
retina |
T229 |
1139-1145 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12343 |
denotes |
retina |
T230 |
1153-1164 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23513 |
denotes |
ameloblasts |
T231 |
1153-1164 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12579 |
denotes |
ameloblasts |
T232 |
1153-1164 |
http://purl.bioontology.org/ontology/MESH/D000565 |
denotes |
ameloblasts |
T233 |
1172-1188 |
http://purl.bioontology.org/ontology/SNOMEDCT/90555008 |
denotes |
developing tooth |
T234 |
1183-1188 |
http://purl.org/sig/ont/fma/fma12516 |
denotes |
tooth |
T235 |
1239-1244 |
http://purl.org/sig/ont/fma/fma12516 |
denotes |
tooth |
T236 |
1212-1219 |
http://purl.bioontology.org/ontology/SNOMEDCT/261665006 |
denotes |
unknown |
T237 |
1212-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38311 |
denotes |
unknown |
T238 |
1212-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150001 |
denotes |
unknown |
T239 |
1212-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150002 |
denotes |
unknown |
T240 |
1212-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150003 |
denotes |
unknown |
T241 |
1212-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123772 |
denotes |
unknown |
T242 |
1212-1219 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17998 |
denotes |
unknown |
T243 |
1220-1230 |
http://purl.bioontology.org/ontology/SNOMEDCT/263538003 |
denotes |
connection |
T244 |
1245-1262 |
http://purl.obolibrary.org/obo/GO_0031214 |
denotes |
biomineralization |
T245 |
1495-1512 |
http://purl.obolibrary.org/obo/GO_0031214 |
denotes |
biomineralization |
T246 |
1267-1274 |
http://purl.bioontology.org/ontology/MESH/D012172 |
denotes |
retinal |
T247 |
1267-1274 |
http://purl.bioontology.org/ontology/NDDF/016731 |
denotes |
retinal |
T248 |
1267-1274 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87176 |
denotes |
retinal |
T249 |
1267-1274 |
http://purl.bioontology.org/ontology/NDFRT/N0000171228 |
denotes |
retinal |
T250 |
1267-1274 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68300 |
denotes |
retinal |
T251 |
1289-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
identification |
T252 |
1289-1303 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
identification |
T253 |
1404-1413 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62230 |
denotes |
potential |
T254 |
1417-1424 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80514 |
denotes |
provide |
T255 |
1462-1471 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61560 |
denotes |
transport |
T256 |
1462-1471 |
http://purl.bioontology.org/ontology/SNOMEDCT/360300001 |
denotes |
transport |
T257 |
1462-1471 |
http://purl.obolibrary.org/obo/GO_0006810 |
denotes |
transport |
T258 |
1462-1471 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50233 |
denotes |
transport |
T259 |
1462-1471 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21079 |
denotes |
transport |
T260 |
1462-1471 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48167 |
denotes |
transport |
T1 |
0-9 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
Mutations |
T4 |
13-18 |
http://purl.obolibrary.org/obo/PR_000005646 |
denotes |
CNNM4 |
T8 |
25-40 |
http://purl.bioontology.org/ontology/MESH/C000596385 |
denotes |
Jalili Syndrome |
T9 |
76-122 |
http://purl.bioontology.org/ontology/MESH/C000596385 |
denotes |
Cone-Rod Dystrophy and Amelogenesis Imperfecta |
T12 |
25-40 |
http://purl.bioontology.org/ontology/OMIM/217080 |
denotes |
Jalili Syndrome |
T13 |
76-122 |
http://purl.bioontology.org/ontology/OMIM/217080 |
denotes |
Cone-Rod Dystrophy and Amelogenesis Imperfecta |
T16 |
25-40 |
http://purl.bioontology.org/ontology/SNOMEDCT/707608003 |
denotes |
Jalili Syndrome |
T19 |
32-40 |
http://purl.bioontology.org/ontology/MESH/D013577 |
denotes |
Syndrome |
T23 |
32-40 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 |
denotes |
Syndrome |
T27 |
56-65 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32168 |
denotes |
Autosomal |
T28 |
76-94 |
http://purl.bioontology.org/ontology/OMIM/MTHU001509 |
denotes |
Cone-Rod Dystrophy |
T30 |
76-80 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12637 |
denotes |
Cone |
T32 |
76-80 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42900 |
denotes |
Cone |
T34 |
76-80 |
http://purl.bioontology.org/ontology/SNOMEDCT/69059007 |
denotes |
Cone |
T36 |
76-80 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70849 |
denotes |
Cone |
T38 |
81-94 |
http://purl.bioontology.org/ontology/SNOMEDCT/313003009 |
denotes |
Rod Dystrophy |
T40 |
81-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71241 |
denotes |
Rod |
T42 |
81-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12638 |
denotes |
Rod |
T44 |
81-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114827 |
denotes |
Rod |
T46 |
81-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C50153 |
denotes |
Rod |
T48 |
81-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71240 |
denotes |
Rod |
T50 |
81-84 |
http://purl.obolibrary.org/obo/PR_000009431 |
denotes |
Rod |
T52 |
81-84 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64352 |
denotes |
Rod |
T54 |
85-94 |
http://purl.bioontology.org/ontology/SNOMEDCT/4720007 |
denotes |
Dystrophy |
T56 |
99-122 |
http://purl.bioontology.org/ontology/MESH/D000567 |
denotes |
Amelogenesis Imperfecta |
T58 |
99-122 |
http://purl.bioontology.org/ontology/OMIM/MTHU037342 |
denotes |
Amelogenesis Imperfecta |
T60 |
99-122 |
http://purl.bioontology.org/ontology/SNOMEDCT/78494001 |
denotes |
Amelogenesis Imperfecta |
T62 |
99-111 |
http://purl.bioontology.org/ontology/MESH/D000566 |
denotes |
Amelogenesis |
T64 |
99-111 |
http://purl.obolibrary.org/obo/GO_0097186 |
denotes |
Amelogenesis |