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PubMed:23174215 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-132 Sentence denotes Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood.
TextSentencer_T2 133-144 Sentence denotes BACKGROUND:
TextSentencer_T3 145-428 Sentence denotes Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder of phosphate homeostasis characterized, when severely expressed, by osteomalacia, suppressed levels of calcitriol, and renal phosphate wasting due to elevated levels of fibroblast growth factor 23 (FGF23).
TextSentencer_T4 429-544 Sentence denotes The disease is caused by heterozygous FGF23 mutations at the RXXR site that prevent cleavage of the intact hormone.
TextSentencer_T5 545-556 Sentence denotes OBJECTIVES:
TextSentencer_T6 557-696 Sentence denotes An FGF23 mutation was identified in the proband an 85-year-old woman with elevated FGF23 levels, and her clinical course was characterized.
TextSentencer_T7 697-763 Sentence denotes Medical records revealed she was treated for rickets as an infant.
TextSentencer_T8 764-890 Sentence denotes She was then asymptomatic until soon after her 4th pregnancy, when she suffered incapacitating bone pain and weakness, age 37.
TextSentencer_T9 891-930 Sentence denotes Symptoms remitted with brief treatment.
TextSentencer_T10 931-939 Sentence denotes RESULTS:
TextSentencer_T11 940-1057 Sentence denotes The proband and one son, but not other family members, were found to be heterozygous for the R176Q mutation in FGF23.
TextSentencer_T12 1058-1204 Sentence denotes Expression of this germ line mutation was strikingly different in both individuals in terms of skeletal health, FGF23 levels and disease activity.
TextSentencer_T13 1205-1217 Sentence denotes CONCLUSIONS:
TextSentencer_T14 1218-1419 Sentence denotes The identified FGF23 mutation in two members of this family raises questions about molecular mechanisms that have led to intermittent increases in FGF23 synthesis and secretion, and disease expression.
T1 0-132 Sentence denotes Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood.
T2 133-144 Sentence denotes BACKGROUND:
T3 145-428 Sentence denotes Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder of phosphate homeostasis characterized, when severely expressed, by osteomalacia, suppressed levels of calcitriol, and renal phosphate wasting due to elevated levels of fibroblast growth factor 23 (FGF23).
T4 429-544 Sentence denotes The disease is caused by heterozygous FGF23 mutations at the RXXR site that prevent cleavage of the intact hormone.
T5 545-556 Sentence denotes OBJECTIVES:
T6 557-696 Sentence denotes An FGF23 mutation was identified in the proband an 85-year-old woman with elevated FGF23 levels, and her clinical course was characterized.
T7 697-763 Sentence denotes Medical records revealed she was treated for rickets as an infant.
T8 764-890 Sentence denotes She was then asymptomatic until soon after her 4th pregnancy, when she suffered incapacitating bone pain and weakness, age 37.
T9 891-930 Sentence denotes Symptoms remitted with brief treatment.
T10 931-939 Sentence denotes RESULTS:
T11 940-1057 Sentence denotes The proband and one son, but not other family members, were found to be heterozygous for the R176Q mutation in FGF23.
T12 1058-1204 Sentence denotes Expression of this germ line mutation was strikingly different in both individuals in terms of skeletal health, FGF23 levels and disease activity.
T13 1205-1217 Sentence denotes CONCLUSIONS:
T14 1218-1419 Sentence denotes The identified FGF23 mutation in two members of this family raises questions about molecular mechanisms that have led to intermittent increases in FGF23 synthesis and secretion, and disease expression.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 392-419 gene:8074 denotes fibroblast growth factor 23
T1 145-188 disease:C0342642 denotes Autosomal dominant hypophosphatemic rickets
T2 392-419 gene:8074 denotes fibroblast growth factor 23
T3 190-194 disease:C0342642 denotes ADHR
T4 421-426 gene:8074 denotes FGF23
T5 145-188 disease:C0342642 denotes Autosomal dominant hypophosphatemic rickets
T6 421-426 gene:8074 denotes FGF23
T7 190-194 disease:C0342642 denotes ADHR
T8 421-426 gene:8074 denotes FGF23
T9 206-222 disease:C0019247 denotes genetic disorder
T10 421-426 gene:8074 denotes FGF23
T11 291-303 disease:C0029442 denotes osteomalacia
R1 T0 T1 associated_with fibroblast growth factor 23,Autosomal dominant hypophosphatemic rickets
R2 T2 T3 associated_with fibroblast growth factor 23,ADHR
R3 T4 T5 associated_with FGF23,Autosomal dominant hypophosphatemic rickets
R4 T6 T7 associated_with FGF23,ADHR
R5 T8 T9 associated_with FGF23,genetic disorder
R6 T10 T11 associated_with FGF23,osteomalacia

Allie

Id Subject Object Predicate Lexical cue
SS1_23174215_2_0 145-188 expanded denotes Autosomal dominant hypophosphatemic rickets
SS2_23174215_2_0 190-194 abbr denotes ADHR
SS1_23174215_2_1 392-419 expanded denotes fibroblast growth factor 23
SS2_23174215_2_1 421-426 abbr denotes FGF23
AE1_23174215_2_0 SS1_23174215_2_0 SS2_23174215_2_0 abbreviatedTo Autosomal dominant hypophosphatemic rickets,ADHR
AE1_23174215_2_1 SS1_23174215_2_1 SS2_23174215_2_1 abbreviatedTo fibroblast growth factor 23,FGF23

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 145-163 HP_0000006 denotes Autosomal dominant
T2 164-188 HP_0004912 denotes hypophosphatemic rickets
T3 181-188 HP_0002748 denotes rickets
T4 214-247 HP_0100529 denotes disorder of phosphate homeostasis
T5 291-303 HP_0002749 denotes osteomalacia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23174215-1#276#281#gene8074 421-426 gene8074 denotes FGF23
23174215-1#146#158#diseaseC0029442 291-303 diseaseC0029442 denotes osteomalacia
23174215-1#146#158#diseaseC3887650 291-303 diseaseC3887650 denotes osteomalacia
276#281#gene8074146#158#diseaseC0029442 23174215-1#276#281#gene8074 23174215-1#146#158#diseaseC0029442 associated_with FGF23,osteomalacia
276#281#gene8074146#158#diseaseC3887650 23174215-1#276#281#gene8074 23174215-1#146#158#diseaseC3887650 associated_with FGF23,osteomalacia

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T745 421-426 gene:8074 denotes FGF23
T746 291-303 disease:C0029442 denotes osteomalacia
R1 T745 T746 associated_with FGF23,osteomalacia
R2 T745 T746 associated_with FGF23,osteomalacia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 164-188 HP:0004912 denotes hypophosphatemic rickets
AB2 291-303 HP:0002749 denotes osteomalacia
AB3 342-365 HP:0000117 denotes renal phosphate wasting
AB4 742-749 HP:0002748 denotes rickets
AB5 859-868 HP:0002653 denotes bone pain

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-43 ORDO:89937 denotes Autosomal dominant hypophosphatemic rickets
AB1 190-194 ORDO:89937 denotes ADHR