PubMed:1429602 / 0-350 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":105,"end":264},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"T2","span":{"begin":105,"end":264},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"Glycosmos6-MAT","denotations":[{"id":"T1","span":{"begin":159,"end":163},"obj":"http://purl.obolibrary.org/obo/MAT_0000299"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":109,"end":137},"obj":"HP_0002655"},{"id":"T2","span":{"begin":225,"end":253},"obj":"HP_0002655"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1429602-0#28#40#geners764943318","span":{"begin":28,"end":40},"obj":"geners764943318"},{"id":"1429602-0#85#103#diseaseC0542428","span":{"begin":85,"end":103},"obj":"diseaseC0542428"}],"relations":[{"id":"28#40#geners76494331885#103#diseaseC0542428","pred":"associated_with","subj":"1429602-0#28#40#geners764943318","obj":"1429602-0#85#103#diseaseC0542428"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1429602-0#49#75#gene1280","span":{"begin":49,"end":75},"obj":"gene1280"},{"id":"1429602-0#85#103#diseaseC0542428","span":{"begin":85,"end":103},"obj":"diseaseC0542428"}],"relations":[{"id":"49#75#gene128085#103#diseaseC0542428","pred":"associated_with","subj":"1429602-0#49#75#gene1280","obj":"1429602-0#85#103#diseaseC0542428"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":109,"end":137},"obj":"HP:0002655"},{"id":"AB2","span":{"begin":225,"end":253},"obj":"HP:0002655"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":184,"end":199},"obj":"ORDO:932"},{"id":"AB2","span":{"begin":225,"end":263},"obj":"ORDO:94068"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":49,"end":75},"obj":"gene:1280"},{"id":"T1","span":{"begin":85,"end":103},"obj":"disease:C0542428"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"Anatomy-MAT","denotations":[{"id":"T1","span":{"begin":159,"end":163},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000299"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":85,"end":103},"obj":"Disease"},{"id":"T4","span":{"begin":109,"end":137},"obj":"Disease"},{"id":"T5","span":{"begin":184,"end":199},"obj":"Disease"},{"id":"T6","span":{"begin":201,"end":219},"obj":"Disease"},{"id":"T9","span":{"begin":225,"end":263},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0008702"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0008703"},{"id":"A3","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0019669"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0007738"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0019648"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0008702"},{"id":"A7","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0008703"},{"id":"A8","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0019669"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0008471"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":159,"end":163},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0001474"},{"id":"A2","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0002481"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":109,"end":137},"obj":"Phenotype"},{"id":"T2","span":{"begin":225,"end":253},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0002655"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0002655"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"An amino acid substitution (Gly853--\u003eGlu) in the collagen alpha 1(II) chain produces hypochondrogenesis.\nThe spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. The phenotypic expression of these disorders ranges from mild to perinatal lethal for"}