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PubMed:1429602 / 0-350 JSONTXT

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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