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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
9593380-0#95#101#geners137852769 95-101 geners137852769 denotes G1528C
9593380-0#147#164#diseaseC0339383 147-164 diseaseC0339383 denotes chorioretinopathy
95#101#geners137852769147#164#diseaseC0339383 9593380-0#95#101#geners137852769 9593380-0#147#164#diseaseC0339383 associated_with G1528C,chorioretinopathy

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-165 Sentence denotes Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
TextSentencer_T2 166-176 Sentence denotes OBJECTIVE:
TextSentencer_T3 177-409 Sentence denotes The purpose of the study was to determine the nature and course of ophthalmic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a recently discovered disorder of mitochondrial fatty acid beta-oxidation.
TextSentencer_T4 410-423 Sentence denotes STUDY DESIGN:
TextSentencer_T5 424-468 Sentence denotes The study design was a cohort (case series).
TextSentencer_T6 469-482 Sentence denotes PARTICIPANTS:
TextSentencer_T7 483-590 Sentence denotes A retrospective review of the records of 15 children who had died during their first 2 years was performed.
TextSentencer_T8 591-725 Sentence denotes Also performed were a longitudinal reanalysis and cross-sectional clinical examination of four long-term survivors aged 5 to 31 years.
TextSentencer_T9 726-748 Sentence denotes MAIN OUTCOME MEASURES:
TextSentencer_T10 749-970 Sentence denotes Visual acuity, refraction, visual fields, ophthalmoscopy, fluorescein angiography, biometry, corneal topography, electroretinography (ERG), visual-evoked potentials (VEPs), color vision, and dark adaptation were measured.
TextSentencer_T11 971-979 Sentence denotes RESULTS:
TextSentencer_T12 980-1101 Sentence denotes In seven children, ophthalmoscopic findings were within normal limits at 3 days to 13 months of age (median, 4.8 months).
TextSentencer_T13 1102-1269 Sentence denotes In 11 children, a granular retinal pigment epithelium (RPE), with or without pigment clumping in the macula, was seen at 4 months to 5 years of age (median, 9 months).
TextSentencer_T14 1270-1440 Sentence denotes Two long-term survivors, 16 and 31 years of age, eventually had circumscribed atrophy of the choroid, RPE, and retina, which coincided with a posterior staphyloma type 1.
TextSentencer_T15 1441-1571 Sentence denotes They had progressive axial myopia starting at 6 and 12 years of age and later paracentral scotomas leading to poor central vision.
TextSentencer_T16 1572-1715 Sentence denotes They suffered from early difficulty with mesopic vision, glare, and a severe generalized color vision deficiency that started as a tritanomaly.
TextSentencer_T17 1716-1769 Sentence denotes A third survivor was mildly myopic at 5 years of age.
TextSentencer_T18 1770-1872 Sentence denotes All four surviving patients had visually insignificant, flake-like supranuclear opacities in the lens.
TextSentencer_T19 1873-1970 Sentence denotes The ERG initially was normal but deteriorated during the first decade and later was unrecordable.
TextSentencer_T20 1971-2012 Sentence denotes The VEP responses remained fairly normal.
TextSentencer_T21 2013-2109 Sentence denotes Initially, angiography showed no blockade of the choroidal fluorescence because of the thin RPE.
TextSentencer_T22 2110-2255 Sentence denotes Filling of choroidal vessels was delayed, and the choriocapillaris and, later, larger choroidal vessels in the posterior pole became nonperfused.
TextSentencer_T23 2256-2268 Sentence denotes CONCLUSIONS:
TextSentencer_T24 2269-2330 Sentence denotes In LCHAD deficiency, the fundus is normal at birth (stage 1).
TextSentencer_T25 2331-2575 Sentence denotes Soon, however, pigment dispersion occurs in the RPE (stage 2), followed by circumscribed chorioretinal atrophy, occlusion of choroidal vessels, and deterioration of central vision, often with relative sparing of the peripheral fundus (stage 3).
TextSentencer_T26 2576-2650 Sentence denotes Finally, posterior staphylomas and central scotomas may develop (stage 4).
TextSentencer_T27 2651-2784 Sentence denotes Developmental cataract, progressive myopia, and deterioration of visual fields and color vision are new findings in LCHAD deficiency.
TextSentencer_T28 2785-2941 Sentence denotes The chorioretinopathy and abnormal ERG precede the development of myopia and posterior staphyloma, which, in turn, coincide with the loss of macular vision.
TextSentencer_T29 2942-3019 Sentence denotes The authors postulate that the RPE or choriocapillaris is primarily affected.
TextSentencer_T30 3020-3173 Sentence denotes Awareness of the characteristic ocular features is important because of an opportunity for dietary treatment, genetic counseling, and prenatal diagnosis.
T1 0-165 Sentence denotes Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
T2 166-176 Sentence denotes OBJECTIVE:
T3 177-409 Sentence denotes The purpose of the study was to determine the nature and course of ophthalmic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a recently discovered disorder of mitochondrial fatty acid beta-oxidation.
T4 410-423 Sentence denotes STUDY DESIGN:
T5 424-468 Sentence denotes The study design was a cohort (case series).
T6 469-482 Sentence denotes PARTICIPANTS:
T7 483-590 Sentence denotes A retrospective review of the records of 15 children who had died during their first 2 years was performed.
T8 591-725 Sentence denotes Also performed were a longitudinal reanalysis and cross-sectional clinical examination of four long-term survivors aged 5 to 31 years.
T9 726-748 Sentence denotes MAIN OUTCOME MEASURES:
T10 749-970 Sentence denotes Visual acuity, refraction, visual fields, ophthalmoscopy, fluorescein angiography, biometry, corneal topography, electroretinography (ERG), visual-evoked potentials (VEPs), color vision, and dark adaptation were measured.
T11 971-979 Sentence denotes RESULTS:
T12 980-1101 Sentence denotes In seven children, ophthalmoscopic findings were within normal limits at 3 days to 13 months of age (median, 4.8 months).
T13 1102-1269 Sentence denotes In 11 children, a granular retinal pigment epithelium (RPE), with or without pigment clumping in the macula, was seen at 4 months to 5 years of age (median, 9 months).
T14 1270-1440 Sentence denotes Two long-term survivors, 16 and 31 years of age, eventually had circumscribed atrophy of the choroid, RPE, and retina, which coincided with a posterior staphyloma type 1.
T15 1441-1571 Sentence denotes They had progressive axial myopia starting at 6 and 12 years of age and later paracentral scotomas leading to poor central vision.
T16 1572-1715 Sentence denotes They suffered from early difficulty with mesopic vision, glare, and a severe generalized color vision deficiency that started as a tritanomaly.
T17 1716-1769 Sentence denotes A third survivor was mildly myopic at 5 years of age.
T18 1770-1872 Sentence denotes All four surviving patients had visually insignificant, flake-like supranuclear opacities in the lens.
T19 1873-1970 Sentence denotes The ERG initially was normal but deteriorated during the first decade and later was unrecordable.
T20 1971-2012 Sentence denotes The VEP responses remained fairly normal.
T21 2013-2109 Sentence denotes Initially, angiography showed no blockade of the choroidal fluorescence because of the thin RPE.
T22 2110-2255 Sentence denotes Filling of choroidal vessels was delayed, and the choriocapillaris and, later, larger choroidal vessels in the posterior pole became nonperfused.
T23 2256-2268 Sentence denotes CONCLUSIONS:
T24 2269-2330 Sentence denotes In LCHAD deficiency, the fundus is normal at birth (stage 1).
T25 2331-2575 Sentence denotes Soon, however, pigment dispersion occurs in the RPE (stage 2), followed by circumscribed chorioretinal atrophy, occlusion of choroidal vessels, and deterioration of central vision, often with relative sparing of the peripheral fundus (stage 3).
T26 2576-2650 Sentence denotes Finally, posterior staphylomas and central scotomas may develop (stage 4).
T27 2651-2784 Sentence denotes Developmental cataract, progressive myopia, and deterioration of visual fields and color vision are new findings in LCHAD deficiency.
T28 2785-2941 Sentence denotes The chorioretinopathy and abnormal ERG precede the development of myopia and posterior staphyloma, which, in turn, coincide with the loss of macular vision.
T29 2942-3019 Sentence denotes The authors postulate that the RPE or choriocapillaris is primarily affected.
T30 3020-3173 Sentence denotes Awareness of the characteristic ocular features is important because of an opportunity for dietary treatment, genetic counseling, and prenatal diagnosis.

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 1412-1432 HP:0030856 denotes posterior staphyloma
AB2 1468-1474 HP:0000545 denotes myopia
AB3 1703-1714 HP:0000552 denotes tritanomaly
AB4 2420-2441 HP:0000533 denotes chorioretinal atrophy
AB5 2665-2673 HP:0000518 denotes cataract
AB6 2687-2693 HP:0000545 denotes myopia
AB7 2851-2857 HP:0000545 denotes myopia
AB8 2862-2882 HP:0030856 denotes posterior staphyloma

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1145-1155 http://purl.obolibrary.org/obo/UBERON_0000483 denotes epithelium
PD-UBERON-AE-B_T2 1203-1209 http://purl.obolibrary.org/obo/UBERON_0000054 denotes macula
PD-UBERON-AE-B_T3 1381-1387 http://purl.obolibrary.org/obo/UBERON_0000966 denotes retina
PD-UBERON-AE-B_T4 1556-1563 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T5 2496-2503 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T6 2611-2618 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T7 2131-2138 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessels
PD-UBERON-AE-B_T8 2206-2213 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessels
PD-UBERON-AE-B_T9 2466-2473 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessels

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 27-80 ORDO:5 denotes long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
AB1 316-333 ORDO:5 denotes LCHAD) deficiency
AB2 2272-2288 ORDO:5 denotes LCHAD deficiency
AB3 2767-2783 ORDO:5 denotes LCHAD deficiency

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1556-1563 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T2 2496-2503 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T3 2611-2618 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T4 1137-1155 http://purl.obolibrary.org/obo/UBERON_0007625 denotes pigment epithelium
PD-UBERON-AE-B_T5 1145-1155 http://purl.obolibrary.org/obo/UBERON_0000483 denotes epithelium
PD-UBERON-AE-B_T6 1203-1209 http://purl.obolibrary.org/obo/UBERON_0000054 denotes macula
PD-UBERON-AE-B_T7 1381-1387 http://purl.obolibrary.org/obo/UBERON_0000966 denotes retina
PD-UBERON-AE-B_T8 2131-2138 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessels
PD-UBERON-AE-B_T9 2206-2213 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessels
PD-UBERON-AE-B_T10 2466-2473 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessels