PubMed:15958417 / 209-319
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T3","span":{"begin":0,"end":110},"obj":"Sentence"},{"id":"T3","span":{"begin":0,"end":110},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}
GlycoBiology-GDGDB
{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T2","span":{"begin":32,"end":37},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"},{"id":"_T11","span":{"begin":72,"end":101},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381"},{"id":"_T12","span":{"begin":72,"end":108},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"},{"id":"_T13","span":{"begin":103,"end":108},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}
ICD10
{"project":"ICD10","denotations":[{"id":"T1","span":{"begin":83,"end":101},"obj":"http://purl.bioontology.org/ontology/ICD10/G71.0"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}
uniprot-human
{"project":"uniprot-human","denotations":[{"id":"T2","span":{"begin":32,"end":37},"obj":"http://www.uniprot.org/uniprot/Q9UH22"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":72,"end":101},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":72,"end":101},"obj":"Disease"},{"id":"T3","span":{"begin":103,"end":108},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0019950"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0012138"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}
NCBITAXON
{"project":"NCBITAXON","denotations":[{"id":"T3","span":{"begin":17,"end":22},"obj":"OrganismTaxon"}],"attributes":[{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"}],"text":"Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}