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PubMed:25408626 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-61 Sentence denotes Arthropathy and proteinuria: nail-patella syndrome revisited.
TextSentencer_T2 62-170 Sentence denotes Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B.
TextSentencer_T3 171-273 Sentence denotes It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities.
TextSentencer_T4 274-406 Sentence denotes However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals.
TextSentencer_T5 407-514 Sentence denotes Although diagnosis can be made at birth, it is often missed, presumably due to the rarity of the condition.
TextSentencer_T6 515-614 Sentence denotes A 35-year-old female presented to our clinic with history of small joint pain of 6 months duration.
TextSentencer_T7 615-690 Sentence denotes In addition she complained of pedal edema off and on for the last 12 years.
TextSentencer_T8 691-780 Sentence denotes Prior to her current presentation she had been managed by a local doctor symptomatically.
TextSentencer_T9 781-868 Sentence denotes On evaluation, a nephrotic syndrome was obvious, but no secondary cause could be found.
TextSentencer_T10 869-1073 Sentence denotes However, her physical examination was characteristic of NPS and keeping in view the autosomal dominant nature of the disorder all her three siblings were screened who too showed classical features of NPS.
TextSentencer_T11 1074-1163 Sentence denotes This rare syndrome as a cause of nephrotic range proteinuria is discussed in this report.
TextSentencer_T12 1164-1260 Sentence denotes The report underlines the importance of a good physical examination in a given clinical setting.
T1 0-61 Sentence denotes Arthropathy and proteinuria: nail-patella syndrome revisited.
T2 62-170 Sentence denotes Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B.
T3 171-273 Sentence denotes It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities.
T4 274-406 Sentence denotes However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals.
T5 407-514 Sentence denotes Although diagnosis can be made at birth, it is often missed, presumably due to the rarity of the condition.
T6 515-614 Sentence denotes A 35-year-old female presented to our clinic with history of small joint pain of 6 months duration.
T7 615-690 Sentence denotes In addition she complained of pedal edema off and on for the last 12 years.
T8 691-780 Sentence denotes Prior to her current presentation she had been managed by a local doctor symptomatically.
T9 781-868 Sentence denotes On evaluation, a nephrotic syndrome was obvious, but no secondary cause could be found.
T10 869-1073 Sentence denotes However, her physical examination was characteristic of NPS and keeping in view the autosomal dominant nature of the disorder all her three siblings were screened who too showed classical features of NPS.
T11 1074-1163 Sentence denotes This rare syndrome as a cause of nephrotic range proteinuria is discussed in this report.
T12 1164-1260 Sentence denotes The report underlines the importance of a good physical examination in a given clinical setting.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 107-125 HP_0000006 denotes autosomal-dominant
T2 582-592 HP_0002829 denotes joint pain
T3 588-592 HP_0012531 denotes pain
T4 651-656 HP_0000969 denotes edema
T5 798-816 HP_0000100 denotes nephrotic syndrome
T6 953-971 HP_0000006 denotes autosomal dominant
T7 1107-1134 HP_0012593 denotes nephrotic range proteinuria
T8 1123-1134 HP_0000093 denotes proteinuria

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
25408626-1#102#107#gene4010 164-169 gene4010 denotes LMX1B
25408626-1#0#21#diseaseC0027341 62-83 diseaseC0027341 denotes Nail-patella syndrome
25408626-1#23#26#diseaseC0027341 85-88 diseaseC0027341 denotes NPS
102#107#gene40100#21#diseaseC0027341 25408626-1#102#107#gene4010 25408626-1#0#21#diseaseC0027341 associated_with LMX1B,Nail-patella syndrome
102#107#gene401023#26#diseaseC0027341 25408626-1#102#107#gene4010 25408626-1#23#26#diseaseC0027341 associated_with LMX1B,NPS

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 0-11 HP:0003040 denotes Arthropathy
TI2 16-27 HP:0000093 denotes proteinuria
AB1 588-592 HP:0012531 denotes pain
AB2 651-656 HP:0000969 denotes edema
AB3 798-816 HP:0000100 denotes nephrotic syndrome
AB4 1107-1134 HP:0012593 denotes nephrotic range proteinuria

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 29-33 http://purl.obolibrary.org/obo/UBERON_0001705 denotes nail
PD-UBERON-AE-B_T2 34-41 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T3 67-74 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T4 332-338 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 62-83 ORDO:2614 denotes Nail-patella syndrome
TI1 29-50 ORDO:2614 denotes nail-patella syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 332-338 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T2 29-33 http://purl.obolibrary.org/obo/UBERON_0001705 denotes nail
PD-UBERON-AE-B_T3 62-66 http://purl.obolibrary.org/obo/UBERON_0001705 denotes Nail
PD-UBERON-AE-B_T4 34-41 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T5 67-74 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella