PubMed:9848786 JSONTXT

{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":6,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":210,"end":223},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":923,"end":944},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":285,"end":295},"obj":"Modifier"},{"id":"T5","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":361,"end":371},"obj":"Modifier"},{"id":"T7","span":{"begin":627,"end":637},"obj":"Modifier"},{"id":"T8","span":{"begin":791,"end":803},"obj":"Modifier"},{"id":"T9","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":923,"end":944},"obj":"DiseaseClass"},{"id":"T11","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1050,"end":1060},"obj":"Modifier"},{"id":"T13","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":6,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":923,"end":944},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":6,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":210,"end":223},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":923,"end":944},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1004,"end":1006},"obj":"gene:3075"},{"id":"T1","span":{"begin":1061,"end":1064},"obj":"disease:C0302810"},{"id":"T2","span":{"begin":1014,"end":1016},"obj":"gene:3075"},{"id":"T3","span":{"begin":1061,"end":1064},"obj":"disease:C0302810"}],"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":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9848786-1#89#97#gene3075","span":{"begin":169,"end":177},"obj":"gene3075"},{"id":"9848786-1#99#101#gene3075","span":{"begin":179,"end":181},"obj":"gene3075"},{"id":"9848786-1#124#143#diseaseC1408247","span":{"begin":204,"end":223},"obj":"diseaseC1408247"},{"id":"9848786-7#38#40#gene3075","span":{"begin":1004,"end":1006},"obj":"gene3075"},{"id":"9848786-7#48#50#gene3075","span":{"begin":1014,"end":1016},"obj":"gene3075"},{"id":"9848786-7#95#98#diseaseC0019061","span":{"begin":1061,"end":1064},"obj":"diseaseC0019061"}],"relations":[{"id":"89#97#gene3075124#143#diseaseC1408247","pred":"associated_with","subj":"9848786-1#89#97#gene3075","obj":"9848786-1#124#143#diseaseC1408247"},{"id":"99#101#gene3075124#143#diseaseC1408247","pred":"associated_with","subj":"9848786-1#99#101#gene3075","obj":"9848786-1#124#143#diseaseC1408247"},{"id":"38#40#gene307595#98#diseaseC0019061","pred":"associated_with","subj":"9848786-7#38#40#gene3075","obj":"9848786-7#95#98#diseaseC0019061"},{"id":"48#50#gene307595#98#diseaseC0019061","pred":"associated_with","subj":"9848786-7#48#50#gene3075","obj":"9848786-7#95#98#diseaseC0019061"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":53,"end":78},"obj":"HP:0005575"},{"id":"AB1","span":{"begin":296,"end":321},"obj":"HP:0005575"},{"id":"AB2","span":{"begin":923,"end":944},"obj":"HP:0004431"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":36},"obj":"SpecificDisease:OMIM:609814"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease:D006463"},{"id":"T3","span":{"begin":115,"end":177},"obj":"SpecificDisease:OMIM:609814"},{"id":"T4","span":{"begin":204,"end":223},"obj":"SpecificDisease:D007674"},{"id":"T5","span":{"begin":296,"end":321},"obj":"SpecificDisease:D006463"},{"id":"T6","span":{"begin":323,"end":326},"obj":"SpecificDisease:D006463"},{"id":"T7","span":{"begin":891,"end":910},"obj":"SpecificDisease:OMIM:609814"},{"id":"T8","span":{"begin":923,"end":944},"obj":"DiseaseClass:D007153"},{"id":"T9","span":{"begin":961,"end":964},"obj":"SpecificDisease:D006463"},{"id":"T10","span":{"begin":1061,"end":1064},"obj":"SpecificDisease:D006463"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Test","denotations":[{"id":"T649","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T650","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T651","span":{"begin":115,"end":177},"obj":"SpecificDisease"},{"id":"T652","span":{"begin":204,"end":223},"obj":"SpecificDisease"},{"id":"T653","span":{"begin":296,"end":321},"obj":"SpecificDisease"},{"id":"T654","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T655","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T656","span":{"begin":923,"end":944},"obj":"DiseaseClass"},{"id":"T657","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T658","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"attributes":[{"id":"A649","pred":"database_id","subj":"T649","obj":"OMIM:609814"},{"id":"A650","pred":"database_id","subj":"T650","obj":"D006463"},{"id":"A651","pred":"database_id","subj":"T651","obj":"OMIM:609814"},{"id":"A652","pred":"database_id","subj":"T652","obj":"D007674"},{"id":"A653","pred":"database_id","subj":"T653","obj":"D006463"},{"id":"A654","pred":"database_id","subj":"T654","obj":"D006463"},{"id":"A655","pred":"database_id","subj":"T655","obj":"OMIM:609814"},{"id":"A656","pred":"database_id","subj":"T656","obj":"D007153"},{"id":"A657","pred":"database_id","subj":"T657","obj":"D006463"},{"id":"A658","pred":"database_id","subj":"T658","obj":"D006463"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":285,"end":327},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":285,"end":327},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":361,"end":371},"obj":"Modifier"},{"id":"T5","span":{"begin":627,"end":637},"obj":"Modifier"},{"id":"T6","span":{"begin":791,"end":803},"obj":"Modifier"},{"id":"T7","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":204,"end":223},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":115,"end":125},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":169,"end":182},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":204,"end":215},"obj":"Modifier"},{"id":"T5","span":{"begin":285,"end":327},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":361,"end":371},"obj":"Modifier"},{"id":"T7","span":{"begin":434,"end":442},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":495,"end":508},"obj":"Modifier"},{"id":"T9","span":{"begin":537,"end":547},"obj":"Modifier"},{"id":"T10","span":{"begin":627,"end":637},"obj":"Modifier"},{"id":"T11","span":{"begin":699,"end":701},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":740,"end":750},"obj":"DiseaseClass"},{"id":"T13","span":{"begin":791,"end":803},"obj":"Modifier"},{"id":"T14","span":{"begin":880,"end":882},"obj":"Modifier"},{"id":"T15","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T17","span":{"begin":1004,"end":1006},"obj":"SpecificDisease"},{"id":"T18","span":{"begin":1014,"end":1016},"obj":"Modifier"},{"id":"T19","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":296,"end":321},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":169,"end":910},"obj":"Modifier"},{"id":"T3","span":{"begin":177,"end":190},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":263,"end":288},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":290,"end":293},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":401,"end":420},"obj":"Modifier"},{"id":"T7","span":{"begin":677,"end":690},"obj":"Modifier"},{"id":"T8","span":{"begin":869,"end":882},"obj":"Modifier"},{"id":"T9","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1004,"end":1006},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T649","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T650","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T651","span":{"begin":115,"end":177},"obj":"SpecificDisease"},{"id":"T652","span":{"begin":204,"end":223},"obj":"SpecificDisease"},{"id":"T653","span":{"begin":296,"end":321},"obj":"SpecificDisease"},{"id":"T654","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T655","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T656","span":{"begin":923,"end":944},"obj":"DiseaseClass"},{"id":"T657","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T658","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"attributes":[{"id":"A649","pred":"database_id","subj":"T649","obj":"OMIM:609814"},{"id":"A650","pred":"database_id","subj":"T650","obj":"D006463"},{"id":"A651","pred":"database_id","subj":"T651","obj":"OMIM:609814"},{"id":"A652","pred":"database_id","subj":"T652","obj":"D007674"},{"id":"A653","pred":"database_id","subj":"T653","obj":"D006463"},{"id":"A654","pred":"database_id","subj":"T654","obj":"D006463"},{"id":"A655","pred":"database_id","subj":"T655","obj":"OMIM:609814"},{"id":"A656","pred":"database_id","subj":"T656","obj":"D007153"},{"id":"A657","pred":"database_id","subj":"T657","obj":"D006463"},{"id":"A658","pred":"database_id","subj":"T658","obj":"D006463"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":296,"end":321},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":210,"end":223},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":285,"end":321},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":0,"end":36},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":53,"end":78},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":204,"end":209},"obj":"Modifier"},{"id":"T4","span":{"begin":210,"end":223},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":285,"end":327},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":361,"end":371},"obj":"Modifier"},{"id":"T7","span":{"begin":627,"end":637},"obj":"Modifier"},{"id":"T8","span":{"begin":791,"end":803},"obj":"Modifier"},{"id":"T9","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":1050,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"123456","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":296,"end":321},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}

{"project":"12345","denotations":[{"id":"T1","span":{"begin":53,"end":78},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":115,"end":125},"obj":"Modifier"},{"id":"T3","span":{"begin":296,"end":321},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":323,"end":326},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":372,"end":382},"obj":"Modifier"},{"id":"T6","span":{"begin":638,"end":648},"obj":"Modifier"},{"id":"T7","span":{"begin":740,"end":750},"obj":"Modifier"},{"id":"T8","span":{"begin":804,"end":814},"obj":"Modifier"},{"id":"T9","span":{"begin":891,"end":910},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":934,"end":944},"obj":"Modifier"},{"id":"T11","span":{"begin":961,"end":964},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1061,"end":1064},"obj":"SpecificDisease"}],"text":"Human complement factor H deficiency associated with hemolytic uremic syndrome.\nThis study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS."}