
PubMed:1429602 / 0-350
Annnotations
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T1 | 0-104 | Sentence | denotes | An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. |
TextSentencer_T2 | 105-264 | Sentence | denotes | The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. |
T1 | 0-104 | Sentence | denotes | An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. |
T2 | 105-264 | Sentence | denotes | The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. |
Glycosmos6-MAT
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 159-163 | http://purl.obolibrary.org/obo/MAT_0000299 | denotes | bone |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 109-137 | HP_0002655 | denotes | spondyloepiphyseal dysplasia |
T2 | 225-253 | HP_0002655 | denotes | spondyloepiphyseal dysplasia |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
1429602-0#28#40#geners764943318 | 28-40 | geners764943318 | denotes | Gly853-->Glu |
1429602-0#85#103#diseaseC0542428 | 85-103 | diseaseC0542428 | denotes | hypochondrogenesis |
28#40#geners76494331885#103#diseaseC0542428 | 1429602-0#28#40#geners764943318 | 1429602-0#85#103#diseaseC0542428 | associated_with | Gly853-->Glu,hypochondrogenesis |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
1429602-0#49#75#gene1280 | 49-75 | gene1280 | denotes | collagen alpha 1(II) chain |
1429602-0#85#103#diseaseC0542428 | 85-103 | diseaseC0542428 | denotes | hypochondrogenesis |
49#75#gene128085#103#diseaseC0542428 | 1429602-0#49#75#gene1280 | 1429602-0#85#103#diseaseC0542428 | associated_with | collagen alpha 1(II) chain,hypochondrogenesis |
PubCasesHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 109-137 | HP:0002655 | denotes | spondyloepiphyseal dysplasia |
AB2 | 225-253 | HP:0002655 | denotes | spondyloepiphyseal dysplasia |
PubCasesORDO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 184-199 | ORDO:932 | denotes | achondrogenesis |
AB2 | 225-263 | ORDO:94068 | denotes | spondyloepiphyseal dysplasia congenita |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 49-75 | gene:1280 | denotes | collagen alpha 1(II) chain |
T1 | 85-103 | disease:C0542428 | denotes | hypochondrogenesis |
R1 | T0 | T1 | associated_with | collagen alpha 1(II) chain,hypochondrogenesis |
Anatomy-MAT
Id | Subject | Object | Predicate | Lexical cue | mat_id |
---|---|---|---|---|---|
T1 | 159-163 | Body_part | denotes | bone | http://purl.obolibrary.org/obo/MAT_0000299 |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 85-103 | Disease | denotes | hypochondrogenesis | http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669 |
T4 | 109-137 | Disease | denotes | spondyloepiphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0007738 |
T5 | 184-199 | Disease | denotes | achondrogenesis | http://purl.obolibrary.org/obo/MONDO_0019648 |
T6 | 201-219 | Disease | denotes | hypochondrogenesis | http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669 |
T9 | 225-263 | Disease | denotes | spondyloepiphyseal dysplasia congenita | http://purl.obolibrary.org/obo/MONDO_0008471 |
Anatomy-UBERON
Id | Subject | Object | Predicate | Lexical cue | uberon_id |
---|---|---|---|---|---|
T1 | 159-163 | Body_part | denotes | bone | http://purl.obolibrary.org/obo/UBERON_0001474|http://purl.obolibrary.org/obo/UBERON_0002481 |
HP-phenotype
Id | Subject | Object | Predicate | Lexical cue | hp_id |
---|---|---|---|---|---|
T1 | 109-137 | Phenotype | denotes | spondyloepiphyseal dysplasia | HP:0002655 |
T2 | 225-253 | Phenotype | denotes | spondyloepiphyseal dysplasia | HP:0002655 |