PubMed:8376405 / 524-848 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":324},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":324},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":186,"end":189},"obj":"gene:7450"},{"id":"T1","span":{"begin":48,"end":79},"obj":"disease:C1282971"},{"id":"T2","span":{"begin":180,"end":184},"obj":"gene:1351"},{"id":"T3","span":{"begin":48,"end":79},"obj":"disease:C1282971"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8376405-3#180#184#gene1351","span":{"begin":180,"end":184},"obj":"gene1351"},{"id":"8376405-3#48#79#diseaseC1282971","span":{"begin":48,"end":79},"obj":"diseaseC1282971"}],"relations":[{"id":"180#184#gene135148#79#diseaseC1282971","pred":"associated_with","subj":"8376405-3#180#184#gene1351","obj":"8376405-3#48#79#diseaseC1282971"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":138,"end":154},"obj":"HP:0001873"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"PubCasesORDO","denotations":[{"id":"AB2","span":{"begin":57,"end":79},"obj":"ORDO:903"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":138,"end":154},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0001873"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"mondo_disease","denotations":[{"id":"T3","span":{"begin":57,"end":79},"obj":"Disease"},{"id":"T5","span":{"begin":81,"end":84},"obj":"Disease"},{"id":"T6","span":{"begin":114,"end":131},"obj":"Disease"},{"id":"T7","span":{"begin":138,"end":154},"obj":"Disease"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0019565"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0024574"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0019565"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0002243"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0002049"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":35,"end":42},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T5","span":{"begin":265,"end":273},"obj":"Body_part"}],"attributes":[{"id":"A5","pred":"uberon_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/CL_0000233"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}

{"project":"CL-cell","denotations":[{"id":"T4","span":{"begin":265,"end":273},"obj":"Cell"}],"attributes":[{"id":"A4","pred":"cl_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/CL:0000233"}],"text":"A new mutation was identified in a patient with type IIB von Willebrand disease (vWD) characterized by a lifelong bleeding disorder, mild thrombocytopenia, normal levels of factor VIII, vWF antigen, and ristocetin cofactor activity but increased ristocetin-induced platelet agglutination at low concentrations of ristocetin."}