PubMed:8175802 / 178-278
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"T3","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"T3","span":{"begin":0,"end":100},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis."}
Glycosmos6-MAT
{"project":"Glycosmos6-MAT","denotations":[{"id":"T1","span":{"begin":70,"end":75},"obj":"http://purl.obolibrary.org/obo/MAT_0000399"}],"text":"A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":31,"end":37},"obj":"gene:1280"},{"id":"T1","span":{"begin":81,"end":99},"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":"A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T6","span":{"begin":31,"end":37},"obj":"Disease"},{"id":"T7","span":{"begin":81,"end":99},"obj":"Disease"}],"attributes":[{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0022800"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0008702"},{"id":"A8","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0008703"},{"id":"A9","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0019669"}],"text":"A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis."}
Anatomy-UBERON
{"project":"Anatomy-UBERON","denotations":[{"id":"T2","span":{"begin":70,"end":75},"obj":"Body_part"}],"attributes":[{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0000323"}],"text":"A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis."}
Anatomy-MAT
{"project":"Anatomy-MAT","denotations":[{"id":"T1","span":{"begin":70,"end":75},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000399"}],"text":"A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis."}