PubMed:10466420
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-119 | Sentence | denotes | Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. |
| TextSentencer_T2 | 120-207 | Sentence | denotes | Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. |
| TextSentencer_T3 | 208-452 | Sentence | denotes | We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. |
| TextSentencer_T4 | 453-686 | Sentence | denotes | The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter. |
| TextSentencer_T5 | 687-756 | Sentence | denotes | Molecular analysis may be of particular value in such atypical cases. |
| T1 | 0-119 | Sentence | denotes | Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. |
| T2 | 120-207 | Sentence | denotes | Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. |
| T3 | 208-452 | Sentence | denotes | We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. |
| T4 | 453-686 | Sentence | denotes | The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter. |
| T5 | 687-756 | Sentence | denotes | Molecular analysis may be of particular value in such atypical cases. |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 333-353 | HP_0004565 | denotes | severe platyspondyly |
| T2 | 340-353 | HP_0000926 | denotes | platyspondyly |
| T3 | 355-370 | HP_0003016 | denotes | wide metaphyses |
| T4 | 376-394 | HP_0003099 | denotes | fibular overgrowth |
| T5 | 384-394 | HP_0001548 | denotes | overgrowth |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10466420-0#25#30#gene1836 | 25-30 | gene1836 | denotes | DTDST |
| 10466420-0#97#118#diseaseC0220726 | 97-118 | diseaseC0220726 | denotes | diastrophic dysplasia |
| 25#30#gene183697#118#diseaseC0220726 | 10466420-0#25#30#gene1836 | 10466420-0#97#118#diseaseC0220726 | associated_with | DTDST,diastrophic dysplasia |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 333-353 | HP:0004565 | denotes | severe platyspondyly |
| AB2 | 376-394 | HP:0003099 | denotes | fibular overgrowth |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 97-118 | ORDO:628 | denotes | diastrophic dysplasia |
| AB1 | 262-283 | ORDO:628 | denotes | diastrophic dysplasia |
| AB2 | 431-451 | ORDO:2635 | denotes | metatropic dysplasia |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 376-383 | http://purl.obolibrary.org/obo/UBERON_0012126 | denotes | fibular |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 376-383 | http://purl.obolibrary.org/obo/UBERON_0012126 | denotes | fibular |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-118 | SpecificDisease:C536170 | denotes | diastrophic dysplasia |
| T2 | 160-177 | DiseaseClass:D010009 | denotes | chondrodysplasias |
| T3 | 262-283 | SpecificDisease:C536170 | denotes | diastrophic dysplasia |
| T4 | 340-353 | DiseaseClass:D013122 | denotes | platyspondyly |
| T5 | 431-451 | SpecificDisease:C537356 | denotes | metatropic dysplasia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 25-30 | gene:1836 | denotes | DTDST |
| T1 | 97-118 | disease:C0220726 | denotes | diastrophic dysplasia |
| R1 | T0 | T1 | associated_with | DTDST,diastrophic dysplasia |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T164 | 97-118 | SpecificDisease | denotes | diastrophic dysplasia | C536170 |
| T165 | 160-177 | DiseaseClass | denotes | chondrodysplasias | D010009 |
| T166 | 262-283 | SpecificDisease | denotes | diastrophic dysplasia | C536170 |
| T167 | 340-353 | DiseaseClass | denotes | platyspondyly | D013122 |
| T168 | 431-451 | SpecificDisease | denotes | metatropic dysplasia | C537356 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T164 | 97-118 | SpecificDisease | denotes | diastrophic dysplasia | C536170 |
| T165 | 160-177 | DiseaseClass | denotes | chondrodysplasias | D010009 |
| T166 | 262-283 | SpecificDisease | denotes | diastrophic dysplasia | C536170 |
| T167 | 340-353 | DiseaseClass | denotes | platyspondyly | D013122 |
| T168 | 431-451 | SpecificDisease | denotes | metatropic dysplasia | C537356 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-118 | SpecificDisease | denotes | diastrophic dysplasia |
| T2 | 160-177 | DiseaseClass | denotes | chondrodysplasias |
| T3 | 262-283 | SpecificDisease | denotes | diastrophic dysplasia |
| T4 | 340-353 | SpecificDisease | denotes | platyspondyly |
| T5 | 431-451 | SpecificDisease | denotes | metatropic dysplasia |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-118 | SpecificDisease | denotes | diastrophic dysplasia |
| T2 | 160-177 | DiseaseClass | denotes | chondrodysplasias |
| T3 | 262-283 | SpecificDisease | denotes | diastrophic dysplasia |
| T4 | 431-451 | SpecificDisease | denotes | metatropic dysplasia |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-118 | SpecificDisease | denotes | diastrophic dysplasia |
| T2 | 160-177 | DiseaseClass | denotes | chondrodysplasias |
| T3 | 262-283 | SpecificDisease | denotes | diastrophic dysplasia |
| T4 | 431-451 | SpecificDisease | denotes | metatropic dysplasia |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-118 | SpecificDisease | denotes | diastrophic dysplasia |
| T2 | 160-177 | DiseaseClass | denotes | chondrodysplasias |
| T3 | 262-283 | SpecificDisease | denotes | diastrophic dysplasia |
| T4 | 340-353 | Modifier | denotes | platyspondyly |
| T5 | 431-451 | SpecificDisease | denotes | metatropic dysplasia |
| T6 | 741-749 | Modifier | denotes | atypical |