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<Instruct>: Given the context 'Similarly, diabetes or the combination of diabetes and obesity have been variably associated with elevated IOP and glaucoma', select the correct biomedical concept corresponding to 'diabetes'. Answer using one of the provided options. | <Options>: A: insulin dependent diabetes mellitus (aka type 1 diabetes mellitus)
B: dm (aka diabetes mellitus (disease)) (aka diabetes mellitus (disease))
C: adult-onset diabetes (aka type 2 diabetes mellitus)
D: None of the above. | B |
<Instruct>: Given the context 'Similarly, diabetes or the combination of diabetes and obesity have been variably associated with elevated IOP and glaucoma', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
B: abdominal obesity-metabolic syndrome
C: morbid obesity (severe obesity) (aka morbid obesity)
D: overgrowth/obesity syndrome
E: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
F: abdominal obesity me... | H |
<Instruct>: Given the context 'Similarly, diabetes or the combination of diabetes and obesity have been variably associated with elevated IOP and glaucoma', select the correct biomedical concept corresponding to 'glaucoma'. Answer using one of the provided options. | <Options>: A: primary congenital glaucoma (aka congenital glaucoma)
B: closed angle glaucoma (aka angle-closure glaucoma)
C: hypersecretion glaucoma
D: glaucoma (aka glaucoma (disease))
E: poag (aka primary open angle glaucoma) (aka primary open angle glaucoma)
F: pigmentary glaucoma (aka open-angle glaucoma)
G: glauco... | D |
<Instruct>: Given the context 'To test if genetic perturbations that cause obesity and diabetes can alter IOP, we compared groups of mice that were genetically similar except that they were either homozygous or heterozygous for a leptin receptor mutation (db) that results in early onset obesity and diabetes.', select t... | <Options>: A: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
B: overgrowth/obesity syndrome
C: syndromic obesity (disease) (aka syndromic genetic obesity)
D: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
E: severe obesity (aka morbid obesity)
F: obesity, susceptibili... | G |
<Instruct>: Given the context 'To test if genetic perturbations that cause obesity and diabetes can alter IOP, we compared groups of mice that were genetically similar except that they were either homozygous or heterozygous for a leptin receptor mutation (db) that results in early onset obesity and diabetes.', select t... | <Options>: A: type 1 diabetes mellitus (insulin-dependent diabetes mellitus) (aka type 1 diabetes mellitus)
B: diabetes mellitus (disease) (dm (aka diabetes mellitus (disease)))
C: non-insulin dependent diabetes (aka type 2 diabetes mellitus)
D: None of the above. | B |
<Instruct>: Given the context 'To test if genetic perturbations that cause obesity and diabetes can alter IOP, we compared groups of mice that were genetically similar except that they were either homozygous or heterozygous for a leptin receptor mutation (db) that results in early onset obesity and diabetes.', select t... | <Options>: A: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
B: abdominal obesity-metabolic syndrome
C: obesity due to congenital leptin resistance
D: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
E: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndro... | G |
<Instruct>: Given the context 'To test if genetic perturbations that cause obesity and diabetes can alter IOP, we compared groups of mice that were genetically similar except that they were either homozygous or heterozygous for a leptin receptor mutation (db) that results in early onset obesity and diabetes.', select t... | <Options>: A: diabetes (aka diabetes mellitus (disease))
B: immune mediated diabetes (aka type 1 diabetes mellitus)
C: diabetes, type 2 (aka type 2 diabetes mellitus)
D: None of the above. | A |
<Instruct>: Given the context 'The obese, diabetic mice had higher IOPs than their lean, non-diabetic littermates.', select the correct biomedical concept corresponding to 'obese'. Answer using one of the provided options. | <Options>: A: morbid obesity (severe obesity) (aka morbid obesity)
B: abdominal obesity-metabolic syndrome
C: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
D: obesity disease (aka obesity disorder)
E: genetic obesity (aka monogenic obesity)
F: syndromic genetic obesity (syndrome associated with obesit... | D |
<Instruct>: Given the context 'The obese, diabetic mice had higher IOPs than their lean, non-diabetic littermates.', select the correct biomedical concept corresponding to 'diabetic'. Answer using one of the provided options. | <Options>: A: diabetes (aka diabetes mellitus (disease))
B: immune mediated diabetes (aka type 1 diabetes mellitus)
C: type ii diabetes mellitus (aka type 2 diabetes mellitus)
D: noninsulin-dependent diabetes mellitus (aka diabetes mellitus, noninsulin-dependent)
E: None of the above. | A |
<Instruct>: Given the context 'The obese, diabetic mice had higher IOPs than their lean, non-diabetic littermates.', select the correct biomedical concept corresponding to 'diabetic'. Answer using one of the provided options. | <Options>: A: type 1 diabetes (aka type 1 diabetes mellitus)
B: type 2 diabetes (aka type 2 diabetes mellitus)
C: dm (aka diabetes mellitus (disease)) (aka diabetes mellitus (disease))
D: noninsulin-dependent diabetes mellitus (aka diabetes mellitus, noninsulin-dependent)
E: None of the above. | C |
<Instruct>: Given the context 'Thus, epidemiological associations between increased IOP and obesity or diabetes are supported by this work and appear to be functionally relevant.', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
B: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
C: obesity due to congenital leptin resistance
D: overgrowth/obesity syndrome
E: syndromic obesity (disease) (aka syndromic genetic obesity)
F: monogenic obe... | J |
<Instruct>: Given the context 'Thus, epidemiological associations between increased IOP and obesity or diabetes are supported by this work and appear to be functionally relevant.', select the correct biomedical concept corresponding to 'diabetes'. Answer using one of the provided options. | <Options>: A: insulin dependent diabetes (aka type 1 diabetes mellitus)
B: diabetes mellitus (aka diabetes mellitus (disease))
C: type 2 diabetes (aka type 2 diabetes mellitus)
D: None of the above. | B |
<Instruct>: Given the context 'Further experiments with obese non-diabetic or diabetic non-obese mice will help to characterize the separate effects of these risk factors.
', select the correct biomedical concept corresponding to 'obese'. Answer using one of the provided options. | <Options>: A: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
B: monogenic isolated obesity (aka genetic non-syndromic obesity)
C: overgrowth/obesity syndrome
D: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
E: obesity disease (aka obesity disorder)
F: abdominal obesi... | E |
<Instruct>: Given the context 'Further experiments with obese non-diabetic or diabetic non-obese mice will help to characterize the separate effects of these risk factors.
', select the correct biomedical concept corresponding to 'diabetic'. Answer using one of the provided options. | <Options>: A: noninsulin-dependent diabetes mellitus (aka diabetes mellitus, noninsulin-dependent)
B: diabetes mellitus (aka diabetes mellitus (disease))
C: type 1 diabetes (aka type 1 diabetes mellitus)
D: type 2 diabetes (aka type 2 diabetes mellitus)
E: None of the above. | B |
<Instruct>: Given the context 'Further experiments with obese non-diabetic or diabetic non-obese mice will help to characterize the separate effects of these risk factors.
', select the correct biomedical concept corresponding to 'diabetic'. Answer using one of the provided options. | <Options>: A: noninsulin-dependent diabetes mellitus (aka diabetes mellitus, noninsulin-dependent)
B: type 1 diabetes (aka type 1 diabetes mellitus)
C: diabetes, type 2 (aka type 2 diabetes mellitus)
D: diabetes mellitus (aka diabetes mellitus (disease))
E: None of the above. | D |
<Instruct>: Given the context 'Further experiments with obese non-diabetic or diabetic non-obese mice will help to characterize the separate effects of these risk factors.
', select the correct biomedical concept corresponding to 'obese'. Answer using one of the provided options. | <Options>: A: abdominal obesity-metabolic syndrome
B: monogenic isolated obesity (aka genetic non-syndromic obesity)
C: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
D: overgrowth/obesity syndrome
E: obesity (aka obesity disorder)
F: abdominal obesity-metabolic syndrome type 3 (aka a... | E |
<Instruct>: Given the context 'Further more detailed studies are needed to define the characteristics of the diurnal rhythm of intraocular pressure in mice, and to determine whether it is lacking or has a different timing in strain CBA/CaJ. Analysis of these mouse strains may increase understanding of the molecular mec... | <Options>: A: hereditary glaucoma (disease) (aka hereditary glaucoma)
B: congenital glaucoma (primary congenital glaucoma) (aka congenital glaucoma)
C: glaucoma (aka glaucoma (disease))
D: primary congenital glaucoma (disease) (primary congenital glaucoma) (aka primary congenital glaucoma (disease))
E: closed angle gla... | C |
<Instruct>: Given the context 'Tyrosinase deficiency causes albinism and has various ocular consequences.', select the correct biomedical concept corresponding to 'albinism'. Answer using one of the provided options. | <Options>: A: ocular albinism (aka ocular albinism (disease))
B: albinism
C: autosomal recessive ocular albinism (disease) (aka autosomal recessive ocular albinism)
D: oculocutaneous albinism, autosomal dominant (aka autosomal dominant oculocutaneous albinism)
E: oculocutaneous or ocular albinism
F: albinism, oculocuta... | B |
<Instruct>: Given the context 'Additionally, IOP differences between the light and dark period of the day were detected in the pigmented but not the albino B6 mice.', select the correct biomedical concept corresponding to 'albino'. Answer using one of the provided options. | <Options>: A: albinoidism, oculocutaneous, autosomal dominant (aka dilution, pigmentary)
B: oca (aka oculocutaneous albinism) (aka oculocutaneous albinism)
C: oculocutaneous albinism, tyrosinase-positive (aka oculocutaneous albinism type 2)
D: partial albinism (aka piebaldism)
E: autosomal recessive ocular albinism (di... | H |
<Instruct>: Given the context 'Thus, albinism can affect the diurnal pattern of IOP changes.', select the correct biomedical concept corresponding to 'albinism'. Answer using one of the provided options. | <Options>: A: nonsyndromic oculocutaneous albinism (aka oculocutaneous albinism)
B: atn (aka oculocutaneous albinism type 1) (aka oculocutaneous albinism type 1)
C: albinism, oculocutaneous, type ii (aka oculocutaneous albinism type 2)
D: oculocutaneous or ocular albinism
E: autosomal recessive ocular albinism (ocular ... | H |
<Instruct>: Given the context 'In agreement with this result, mice with albino eyes that are homozygous for tyrosinase or pink eye dilution mutations have altered diurnal rhythms compared to pigmented mice [75].', select the correct biomedical concept corresponding to 'albino'. Answer using one of the provided options. | <Options>: A: oculocutaneous albinism, tyrosinase-negative (aka oculocutaneous albinism type 1a)
B: ocular albinism (aka ocular albinism (disease))
C: oculocutaneous or ocular albinism
D: aroa (aka autosomal recessive ocular albinism) (aka autosomal recessive ocular albinism)
E: albinism
F: oca (aka oculocutaneous albi... | E |
<Instruct>: Given the context 'Albinism by itself is either not sufficient to alter the diurnal rhythm of IOP or alters it in different ways depending upon genetic background, however, since the albino strains BALB/cByJ and SWR/J had increased IOP during the dark.', select the correct biomedical concept corresponding t... | <Options>: A: albinism 1 (aka oculocutaneous albinism type 1a)
B: albinism, oculocutaneous, type 2 (aka oculocutaneous albinism type 2)
C: oca (aka oculocutaneous albinism) (aka oculocutaneous albinism)
D: ocular albinism (aka ocular albinism (disease))
E: autosomal dominant oculocutaneous albinism (oculocutaneous albi... | I |
<Instruct>: Given the context 'Albinism by itself is either not sufficient to alter the diurnal rhythm of IOP or alters it in different ways depending upon genetic background, however, since the albino strains BALB/cByJ and SWR/J had increased IOP during the dark.', select the correct biomedical concept corresponding t... | <Options>: A: albinism
B: aroa (aka autosomal recessive ocular albinism) (aka autosomal recessive ocular albinism)
C: oculocutaneous albinism, tyrosinase negative (aka oculocutaneous albinism type 1)
D: albinoidism (aka oculocutaneous albinism type 2)
E: albinism, oculocutaneous (aka oculocutaneous albinism)
F: oculocu... | A |
<Instruct>: Given the context 'Further experiments will determine the nature of the diurnal rhythm of IOP in the albino B6 mice and if its alteration or other mechanisms result in IOP elevation.
', select the correct biomedical concept corresponding to 'albino'. Answer using one of the provided options. | <Options>: A: oculocutaneous or ocular albinism
B: dilution, pigmentary (albinoidism, oculocutaneous, autosomal dominant) (aka dilution, pigmentary)
C: ocular albinism (aka ocular albinism (disease))
D: oculocutaneous albinism, tyrosinase-negative (aka oculocutaneous albinism type 1a)
E: oculocutaneous albinism, tyrosi... | F |
<Instruct>: Given the context 'B6 mice develop diet induced diabetes when maintained on a high fat diet [76].', select the correct biomedical concept corresponding to 'diabetes'. Answer using one of the provided options. | <Options>: A: insulin dependent diabetes (aka type 1 diabetes mellitus)
B: diabetes, type 2 (aka type 2 diabetes mellitus)
C: dm (aka diabetes mellitus (disease)) (aka diabetes mellitus (disease))
D: None of the above. | C |
<Instruct>: Given the context 'To ensure that we were analyzing the effect of age and not diabetes, the B6 mice in the aging experiment were fed NIH31 (4% fat) chow.', select the correct biomedical concept corresponding to 'diabetes'. Answer using one of the provided options. | <Options>: A: type ii diabetes (aka type 2 diabetes mellitus)
B: diabetes mellitus (aka diabetes mellitus (disease))
C: insulin dependent diabetes mellitus (aka type 1 diabetes mellitus)
D: None of the above. | B |
<Instruct>: Given the context 'Mutations in ATRX provided the first example of a human genetic disease associated with defects in such proteins.', select the correct biomedical concept corresponding to 'genetic disease'. Answer using one of the provided options. | <Options>: A: inborn disorder (aka mendelian disease)
B: genetic (aka inherited)
C: autosomal genetic disease (autosomal hereditary disorder) (aka autosomal genetic disease)
D: genetic susceptibilities (aka inherited disease susceptibility)
E: None of the above. | A |
<Instruct>: Given the context 'To better understand the role of ATRX in development and the associated abnormalities in the ATR-X (alpha thalassemia mental retardation, X-linked) syndrome, we conditionally inactivated the homolog in mice, Atrx, at the 8- to 16-cell stage of development.', select the correct biomedical ... | <Options>: A: atrx (aka alpha thalassemia-x-linked intellectual disability syndrome) (aka alpha thalassemia-x-linked intellectual disability syndrome)
B: chromosome x monosomy x (aka turner syndrome)
C: atr-x-related syndrome
D: triple x syndrome (aka trisomy x)
E: pentasomy x (chromosome xxxxx syndrome) (aka pentasomy... | A |
<Instruct>: Given the context 'To better understand the role of ATRX in development and the associated abnormalities in the ATR-X (alpha thalassemia mental retardation, X-linked) syndrome, we conditionally inactivated the homolog in mice, Atrx, at the 8- to 16-cell stage of development.', select the correct biomedical ... | <Options>: A: alpha-thalassemia/mental retardation syndrome, type 1 (aka alpha thalassemia-intellectual disability syndrome type 1)
B: alpha-thalassemia/mental retardation syndrome, nondeletion type (aka alpha thalassemia-x-linked intellectual disability syndrome)
C: None of the above. | B |
<Instruct>: Given the context 'Mutations in the ATRX gene, which is located on the female sex chromosome (X), provided the first example of a human disease (ATR-X syndrome) associated with defects in such proteins.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided opti... | <Options>: A: disease qualifier (aka disease characteristic)
B: disorders (aka disease or disorder)
C: disease of organism subdivision (aka disorder by anatomical region)
D: disease of anatomical entity (aka disease by anatomical system)
E: disease by infectious agent (aka infectious disease)
F: None of the above. | B |
<Instruct>: Given the context 'Mutations in the ATRX gene, which is located on the female sex chromosome (X), provided the first example of a human disease (ATR-X syndrome) associated with defects in such proteins.', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provid... | <Options>: A: 48 xxxx syndrome (aka tetrasomy x)
B: xxxxx syndrome (aka pentasomy x)
C: chromosome x monosomy x (aka turner syndrome)
D: alpha-thalassemia/mental retardation syndrome, x-linked; atrx (aka alpha thalassemia-x-linked intellectual disability syndrome)
E: triple-x female (aka trisomy x)
F: atr-x-related syn... | D |
<Instruct>: Given the context 'Introduction
ATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1].', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided options. | <Options>: A: atrx (aka alpha thalassemia-x-linked intellectual disability syndrome) (aka alpha thalassemia-x-linked intellectual disability syndrome)
B: trisomy x (triple-x chromosome syndrome) (aka trisomy x)
C: atr-x-related syndrome
D: 49, xxxxx syndrome (aka pentasomy x)
E: chromosome x monosomy x (aka turner synd... | A |
<Instruct>: Given the context 'Introduction
ATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1].', select the correct biomedical concept corresponding to 'congenital abnormalities'. Answer using one of the provided opti... | <Options>: A: malformation syndrome (aka developmental defect during embryogenesis)
B: defect/deformity, congenital (aka congenital abnormality)
C: congenital or acquired
D: None of the above. | B |
<Instruct>: Given the context 'It is usually associated with a mild form of α-thalassaemia, caused by reduced expression of structurally intact α-globin genes, and characterised by the presence of β-globin tetramers (haemoglobin H inclusion bodies) in peripheral red blood cells.', select the correct biomedical concept ... | <Options>: A: beta-thalassemia major (beta thalassemia major) (aka beta-thalassemia major)
B: delta-beta-thalassemia
C: alpha-thalassemia myelodysplasia syndrome (aka alpha-thalassemia-myelodysplastic syndrome)
D: alpha-thalassemia (aka alpha thalassemia)
E: alpha-thalassemia and related diseases
F: alpha-thalassemia-r... | D |
<Instruct>: Given the context 'The ATR-X syndrome is caused by mutations in a gene (ATRX) that comprises 36 exons spanning 300 kb of genomic DNA at Chromosome Xq13.3', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided options. | <Options>: A: 48 xxxx syndrome (aka tetrasomy x)
B: pentasomy x (chromosome xxxxx syndrome) (aka pentasomy x)
C: atr, nondeletion type (aka alpha thalassemia-x-linked intellectual disability syndrome)
D: atr-x-related syndrome
E: chromosome x monosomy x (aka turner syndrome)
F: trisomy x (triple-x chromosome syndrome) ... | C |
<Instruct>: Given the context 'The mouse homolog of the ATRX gene, Atrx, is also situated on the X chromosome, and also gives rise to full-length (Atrx, ~280 kDa) and truncated (Atrxt, ~200 kDa) isoforms [4,5].
Disease-causing missense mutations are clustered in two regions of the gene: a PHD-like zinc finger domain a... | <Options>: A: diseases (aka disease or disorder)
B: disease by body site (aka disorder by anatomical region)
C: disease qualifier (aka disease characteristic)
D: disease of anatomical system (aka disease by anatomical system)
E: disease by infectious agent (aka infectious disease)
F: None of the above. | A |
<Instruct>: Given the context 'The former motif is thought to be involved in protein-protein interactions in chromatin [7], and the latter is a feature of chromatin-remodelling proteins, and the presence of disease-causing mutations indicates the functional importance of these domains.', select the correct biomedical c... | <Options>: A: disease qualifier (aka disease characteristic)
B: disease of anatomical system (aka disease by anatomical system)
C: diseases (aka disease or disorder)
D: disease by infectious agent (aka infectious disease)
E: disease of organism subdivision (aka disorder by anatomical region)
F: None of the above. | C |
<Instruct>: Given the context 'The consistent core of clinical and haematological features observed in ATR-X patients suggests that, like the SWI2/SNF2 chromatin-remodelling protein, ATRX probably regulates transcription of a discrete set of target genes.', select the correct biomedical concept corresponding to 'atr-x'... | <Options>: A: mrxarx (aka intellectual disability, x-linked, with or without seizures, arx-related)
B: fragile x syndrome type 1
C: mental retardation, x-linked (aka autism, susceptibility to, x-linked 2)
D: fxs (aka fragile x syndrome) (aka fragile x syndrome)
E: atr-x-related syndrome
F: mental retardation, x-linked,... | H |
<Instruct>: Given the context 'It has been shown that disease-causing mutations in the human ATRX gene give rise to changes in the normal pattern of DNA methylation at several repetitive sequences within the human genome [11].', select the correct biomedical concept corresponding to 'disease'. Answer using one of the p... | <Options>: A: disease or disorder, non-neoplastic (aka disease or disorder)
B: disease by body site (aka disorder by anatomical region)
C: disease by infectious agent (aka infectious disease)
D: disease of anatomical system (aka disease by anatomical system)
E: disease qualifier (aka disease characteristic)
F: None of ... | A |
<Instruct>: Given the context 'Notably, the transcribed region of the ribosomal DNA (rDNA) repeat was found to be significantly hypomethylated in ATR-X patients relative to normal individuals.', select the correct biomedical concept corresponding to 'atr-x'. Answer using one of the provided options. | <Options>: A: intellectual disability, x-linked, with or without seizures, arx-related (mental retardation, x-linked, with or without seizures, arx-related; mrxarx) (aka intellectual disability, x-linked, with or without seizures, arx-related)
B: fxs (aka fragile x syndrome) (aka fragile x syndrome)
C: ataxia-telangiec... | J |
<Instruct>: Given the context 'The observation that rDNA is hypomethylated in the absence of Atrx, even in ES cells, is consistent with the finding that hypomethylation of the human rDNA repeats is detectable from an early developmental stage in ATR-X patients.', select the correct biomedical concept corresponding to '... | <Options>: A: atrx (aka alpha thalassemia-x-linked intellectual disability syndrome) (aka alpha thalassemia-x-linked intellectual disability syndrome)
B: mental retardation, x-linked 38 (aka intellectual disability, x-linked, with or without seizures, arx-related)
C: atr-x-related syndrome
D: fragile x syndrome type 1
... | A |
<Instruct>: Given the context 'This finding was unexpected, since human ATR-X patients clearly survive to adulthood (see Discussion).', select the correct biomedical concept corresponding to 'atr-x'. Answer using one of the provided options. | <Options>: A: mre11 ataxia - telangiectasia-like disorder (aka ataxia-telangiectasia-like disorder 1)
B: atr-x syndrome (aka alpha thalassemia-x-linked intellectual disability syndrome)
C: mental retardation, x-linked (aka autism, susceptibility to, x-linked 2)
D: mrxarx (aka intellectual disability, x-linked, with or ... | B |
<Instruct>: Given the context 'Embryonic lethality in mice in the absence of Atrx was a surprising finding, as there had been no suggestion of foetal loss in the human ATR-X syndrome.', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided options. | <Options>: A: triple-x chromosome syndrome (aka trisomy x)
B: 48 xxxx syndrome (aka tetrasomy x)
C: atr-x-related syndrome
D: 49,xxxxx syndrome (aka pentasomy x)
E: chromosome x monosomy x (aka turner syndrome)
F: atrx syndrome (aka alpha thalassemia-x-linked intellectual disability syndrome)
G: None of the above. | F |
<Instruct>: Given the context 'Indeed, the birth weight of babies with ATR-X syndrome is usually normal.', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided options. | <Options>: A: 48 xxxx syndrome (aka tetrasomy x)
B: triple-x female (aka trisomy x)
C: chromosome x monosomy x (aka turner syndrome)
D: atrx syndrome (aka alpha thalassemia-x-linked intellectual disability syndrome)
E: 49,xxxxx syndrome (aka pentasomy x)
F: atr-x-related syndrome
G: None of the above. | D |
<Instruct>: Given the context 'In contrast, all disease-causing mutations characterised in human ATR-X pedigrees appear to give rise to hypomorphic alleles.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease of anatomical entity (aka disease by anatomical system)
B: disease by infectious agent (aka infectious disease)
C: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
D: condition (aka disease or disorder)
E: disease qualifier (aka disease character... | D |
<Instruct>: Given the context 'In contrast, all disease-causing mutations characterised in human ATR-X pedigrees appear to give rise to hypomorphic alleles.', select the correct biomedical concept corresponding to 'atr-x'. Answer using one of the provided options. | <Options>: A: mental retardation, x-linked 2 (aka mrx2)
B: fragile x syndrome type 1
C: fxs (aka fragile x syndrome) (aka fragile x syndrome)
D: mental retardation, x-linked, associated with fragile site fraxe (aka fraxe intellectual disability)
E: mental retardation, x-linked (aka autism, susceptibility to, x-linked 2... | J |
<Instruct>: Given the context 'Summary
ATR-X syndrome is the first human genetic disease known to be caused by mutations in a chromatin remodelling factor.', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided options. | <Options>: A: chromosome x monosomy x (aka turner syndrome)
B: atr-x-related syndrome
C: atrx (aka alpha thalassemia-x-linked intellectual disability syndrome) (aka alpha thalassemia-x-linked intellectual disability syndrome)
D: chromosome xxxxx syndrome (aka pentasomy x)
E: triple-x female (aka trisomy x)
F: 48 xxxx s... | C |
<Instruct>: Given the context 'Summary
ATR-X syndrome is the first human genetic disease known to be caused by mutations in a chromatin remodelling factor.', select the correct biomedical concept corresponding to 'genetic disease'. Answer using one of the provided options. | <Options>: A: inherited genetic (aka inherited)
B: genetic predisposition (aka inherited disease susceptibility)
C: autosomal genetic disease (autosomal hereditary disorder) (aka autosomal genetic disease)
D: hereditary disease or disorder (aka mendelian disease)
E: None of the above. | D |
<Instruct>: Given the context 'Nevertheless, we have previously noted that none of the natural mutations causing ATR-X syndrome are nulls, which suggests that it plays a critical role in normal development.', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided optio... | <Options>: A: triple-x chromosome syndrome (aka trisomy x)
B: atr-x-related syndrome
C: chromosome x monosomy x (aka turner syndrome)
D: pentasomy x (chromosome xxxxx syndrome) (aka pentasomy x)
E: 48 xxxx syndrome (aka tetrasomy x)
F: atr, nondeletion type (aka alpha thalassemia-x-linked intellectual disability syndro... | F |
<Instruct>: Given the context 'Accession Numbers
The Online Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) accession number for ATR-X syndrome is 301040.', select the correct biomedical concept corresponding to 'atr-x syndrome'. Answer using one of the provided options. | <Options>: A: atrx syndrome (aka alpha thalassemia-x-linked intellectual disability syndrome)
B: 48 xxxx syndrome (aka tetrasomy x)
C: atr-x-related syndrome
D: 49, xxxxx syndrome (aka pentasomy x)
E: chromosome x monosomy x (aka turner syndrome)
F: triplo x syndrome (aka trisomy x)
G: None of the above. | A |
<Instruct>: Given the context 'Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
Abstract
We observed a severe autosomal recessive movement disorder in mice used within our laboratory.', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided ... | <Options>: A: ataxia with fasciculations
B: sca (aka hereditary ataxia) (aka hereditary ataxia)
C: ataxia with dementia
D: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
E: non-hereditary degenerative ataxia
F: spinocerebellar ataxia (aka autosomal dominant cerebellar ataxia)
G: cerebellar ataxia (s... | G |
<Instruct>: Given the context 'Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
Abstract
We observed a severe autosomal recessive movement disorder in mice used within our laboratory.', select the correct biomedical concept corresponding to 'spinocerebellar ataxia 15'. Answer using o... | <Options>: A: scar15 (aka autosomal recessive spinocerebellar ataxia 15)
B: sca16 (formerly) (aka spinocerebellar ataxia type 15/16)
C: spinocerebellar ataxia 14 (aka spinocerebellar ataxia type 14)
D: spinocerebellar ataxia 8, formerly (aka infantile onset spinocerebellar ataxia)
E: spinocerebellar ataxia 10 (aka spin... | B |
<Instruct>: Given the context 'Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
Abstract
We observed a severe autosomal recessive movement disorder in mice used within our laboratory.', select the correct biomedical concept corresponding to 'movement disorder'. Answer using one of th... | <Options>: A: neuromuscular disease
B: eye movement disorder (aka ocular motility disease)
C: muscular disease (disease or disorder of muscle organ) (aka muscular disease)
D: extrapyramidal and movement disease
E: mental disorder (mental or behavioural disorder) (aka mental disorder)
F: movement disease (aka movement d... | F |
<Instruct>: Given the context 'We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus.', select the correct biomedical concept corresponding to 'disorder'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: mental disorder (aka psychiatric disorder)
C: diseases and disorders (aka disease or disorder)
D: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
E: disorder by anatomical region (disorder of organism subdivi... | C |
<Instruct>: Given the context 'We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: diseases and disorders (aka disease or disorder)
C: disease of anatomical system (aka disease by anatomical system)
D: disease by infectious agent (aka infectious disease)
E: disease by body site (aka disorder by anatomical region)
F: None of the above. | B |
<Instruct>: Given the context 'Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1.', select the correct biomedical concept corresponding to 'disorder'. Answer using one of the pr... | <Options>: A: disease of anatomical system (aka disease by anatomical system)
B: diseases and disorders (aka disease or disorder)
C: disorder of organism subdivision (aka disorder by anatomical region)
D: disease qualifier (aka disease characteristic)
E: mental disorder (mental or behavioural disorder) (aka mental diso... | B |
<Instruct>: Given the context 'Spinocerebellar ataxia 15 (SCA15), a human autosomal dominant disorder, maps to the genomic region containing ITPR1; however, to date no causal mutations had been identified.', select the correct biomedical concept corresponding to 'spinocerebellar ataxia 15'. Answer using one of the prov... | <Options>: A: spinocerebellar ataxia 14 (aka spinocerebellar ataxia type 14)
B: autosomal recessive spinocerebellar ataxia type 15 (aka autosomal recessive spinocerebellar ataxia 15)
C: spinocerebellar ataxia 10 (aka spinocerebellar ataxia type 10)
D: spinocerebellar ataxia 8, formerly (aka infantile onset spinocerebel... | F |
<Instruct>: Given the context 'Spinocerebellar ataxia 15 (SCA15), a human autosomal dominant disorder, maps to the genomic region containing ITPR1; however, to date no causal mutations had been identified.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca18 (aka spinocerebellar ataxia type 18)
B: sca30 (aka spinocerebellar ataxia type 30)
C: sca28 (aka spinocerebellar ataxia type 28)
D: sca27 (aka spinocerebellar ataxia type 27)
E: sca14 (aka spinocerebellar ataxia type 14)
F: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
G: sca20 (aka s... | J |
<Instruct>: Given the context 'Spinocerebellar ataxia 15 (SCA15), a human autosomal dominant disorder, maps to the genomic region containing ITPR1; however, to date no causal mutations had been identified.', select the correct biomedical concept corresponding to 'autosomal dominant disorder'. Answer using one of the pr... | <Options>: A: autosomal inherited disease (aka autosomal genetic disease)
B: disease, autosomal dominant (aka autosomal dominant disease)
C: molecular disease (aka mendelian disease)
D: autosomal recessive inherited disorder (aka autosomal recessive disease)
E: None of the above. | B |
<Instruct>: Given the context 'Because ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15.', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided options. | <Options>: A: non-hereditary degenerative ataxia
B: cerebellar ataxias (aka cerebellar ataxia)
C: ataxia with fasciculations
D: acquired cerebellar ataxia (aka acquired ataxia)
E: ataxia with dementia
F: sca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
G: sca (aka hereditary ata... | B |
<Instruct>: Given the context 'Because ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca11 (aka spinocerebellar ataxia type 11)
B: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
C: sca18 (aka spinocerebellar ataxia type 18)
D: sca15 (aka spinocerebellar ataxia type 15/16)
E: sca13 (aka spinocerebellar ataxia type 13)
F: sca25 (aka spinocerebellar ataxia type ... | D |
<Instruct>: Given the context 'We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans.
', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca16 (formerly) (aka spinocerebellar ataxia type 15/16)
B: sca28 (aka spinocerebellar ataxia type 28)
C: sca11 (aka spinocerebellar ataxia type 11)
D: sca25 (aka spinocerebellar ataxia type 25)
E: sca30 (aka spinocerebellar ataxia type 30)
F: sca20 (aka spinocerebellar ataxia type 20)
G: sca13 (aka spino... | A |
<Instruct>: Given the context 'Author Summary
We have identified a spontaneous in-frame deletion mutation in the gene Itpr1 that causes a recessive movement disorder in mice.', select the correct biomedical concept corresponding to 'movement disorder'. Answer using one of the provided options. | <Options>: A: mental disorder (mental or behavioural disorder) (aka mental disorder)
B: neuromuscular disease
C: diseases (aka disease or disorder)
D: movement disorders (aka movement disorder)
E: intestinal motility disease (disorder of intestinal motility) (aka intestinal motility disease)
F: abnormal eye movements (... | D |
<Instruct>: Given the context 'In an attempt to define whether any similar disease occurs in humans we performed a literature search for diseases linked to the human chromosomal region containing ITPR1.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
C: disorder of organism subdivision (aka disorder by anatomical region)
D: medical condition (aka disease or disorder)
E: disease by infectious agent (aka infec... | D |
<Instruct>: Given the context 'In an attempt to define whether any similar disease occurs in humans we performed a literature search for diseases linked to the human chromosomal region containing ITPR1.', select the correct biomedical concept corresponding to 'diseases'. Answer using one of the provided options. | <Options>: A: disease or disorder (disease or disorder, non-neoplastic) (aka disease or disorder)
B: disease qualifier (aka disease characteristic)
C: anatomical system disease (aka disease by anatomical system)
D: disease by body site (aka disorder by anatomical region)
E: None of the above. | A |
<Instruct>: Given the context 'We identified the disease spinocerebellar ataxia 15 as linked to this region.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease by infectious agent (aka infectious disease)
B: disease of organism subdivision (aka disorder by anatomical region)
C: disorders (aka disease or disorder)
D: disease of anatomical entity (aka disease by anatomical system)
E: disease qualifier (aka disease characteristic)
F: None of the above. | C |
<Instruct>: Given the context 'We identified the disease spinocerebellar ataxia 15 as linked to this region.', select the correct biomedical concept corresponding to 'spinocerebellar ataxia 15'. Answer using one of the provided options. | <Options>: A: scar15 (aka autosomal recessive spinocerebellar ataxia 15)
B: spinocerebellar ataxia 10 (aka spinocerebellar ataxia type 10)
C: spinocerebellar ataxia 14 (aka spinocerebellar ataxia type 14)
D: spinocerebellar ataxia 15 (aka spinocerebellar ataxia type 15/16)
E: spinocerebellar ataxia 13 (aka spinocerebel... | D |
<Instruct>: Given the context 'High-density genomic analysis of affected members from three families revealed that disease in these patients was caused by deletion of a large portion of the region containing ITPR1.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided opti... | <Options>: A: disease by body site (aka disorder by anatomical region)
B: disease of anatomical system (aka disease by anatomical system)
C: disorder (aka disease or disorder)
D: disease qualifier (aka disease characteristic)
E: disease by infectious agent (aka infectious disease)
F: None of the above. | C |
<Instruct>: Given the context 'These data show convincingly that ITPR1 deletion underlies spinocerebellar ataxia 15 in humans.
', select the correct biomedical concept corresponding to 'spinocerebellar ataxia 15'. Answer using one of the provided options. | <Options>: A: spinocerebellar ataxia, autosomal recessive 15 (aka autosomal recessive spinocerebellar ataxia 15)
B: spinocerebellar ataxia 16 (aka spinocerebellar ataxia type 15/16)
C: spinocerebellar ataxia 8 (formerly) (aka infantile onset spinocerebellar ataxia)
D: spinocerebellar ataxia 13 (aka spinocerebellar atax... | B |
<Instruct>: Given the context 'Introduction
The use of forward genetics to define novel loci of interest in human disease has become increasingly viable with the implementation of large-scale mutagenesis programs.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided opti... | <Options>: A: diseases and disorders (aka disease or disorder)
B: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
C: disease by infectious agent (aka infectious disease)
D: disease qualifier (aka disease characteristic)
E: anatomical system disease (aka disease by an... | A |
<Instruct>: Given the context 'Prior to these initiatives this work was carried out in part by the investigation of spontaneous mutations that cause disorders in mouse breeding colonies.', select the correct biomedical concept corresponding to 'disorders'. Answer using one of the provided options. | <Options>: A: disorders (aka disease or disorder)
B: disease qualifier (aka disease characteristic)
C: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
D: mental disorder (aka psychiatric disorder)
E: anatomical system disease (aka disease by anatomical system)
F: men... | A |
<Instruct>: Given the context 'Careful observation of these serendipitous events has led to the establishment and study of many in vivo disease models [3].
', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disorders (aka disease or disorder)
B: disease of anatomical entity (aka disease by anatomical system)
C: disease qualifier (aka disease characteristic)
D: disease by infectious agent (aka infectious disease)
E: disease of organism subdivision (aka disorder by anatomical region)
F: None of the above. | A |
<Instruct>: Given the context 'During the generation of a knockout line of mice we noted an early movement disorder that was inherited independently of targeting vector transmission.', select the correct biomedical concept corresponding to 'movement disorder'. Answer using one of the provided options. | <Options>: A: acquired peripheral movement disorder
B: disorder of eye movements (aka ocular motility disease)
C: movement disorder (movement disorders) (aka movement disorder)
D: disorder of muscle organ (aka muscular disease)
E: intestinal motility disease (disorder of intestinal motility) (aka intestinal motility di... | C |
<Instruct>: Given the context 'We embarked on a series of experiments to identify the genetic lesion underlying this movement disorder and to identify a cognate disease and corresponding mutation in humans.', select the correct biomedical concept corresponding to 'movement disorder'. Answer using one of the provided op... | <Options>: A: disorder of eye movements (aka ocular motility disease)
B: extrapyramidal and movement disease
C: condition (aka disease or disorder)
D: acquired peripheral movement disorder
E: abnormal eye movements (aka neurological disease with abnormal eye movements)
F: mental disorder (mental or behavioural disorder... | H |
<Instruct>: Given the context 'We embarked on a series of experiments to identify the genetic lesion underlying this movement disorder and to identify a cognate disease and corresponding mutation in humans.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease of organism subdivision (aka disorder by anatomical region)
B: diseases and disorders (aka disease or disorder)
C: disease by infectious agent (aka infectious disease)
D: disease of anatomical system (aka disease by anatomical system)
E: disease qualifier (aka disease characteristic)
F: None of th... | B |
<Instruct>: Given the context 'Here we describe this effort and the discovery of deletion at the ITPR1 locus as a cause of this disorder in mice and of spinocerebellar ataxia 15 (SCA15) in humans.
', select the correct biomedical concept corresponding to 'disorder'. Answer using one of the provided options. | <Options>: A: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
B: mental disorder (aka psychiatric disorder)
C: disorder (aka disease or disorder)
D: disease of anatomical entity (aka disease by anatomical system)
E: disease qualifier (aka disease characteristic)
F: m... | C |
<Instruct>: Given the context 'Here we describe this effort and the discovery of deletion at the ITPR1 locus as a cause of this disorder in mice and of spinocerebellar ataxia 15 (SCA15) in humans.
', select the correct biomedical concept corresponding to 'spinocerebellar ataxia 15'. Answer using one of the provided op... | <Options>: A: spinocerebellar ataxia 13 (aka spinocerebellar ataxia type 13)
B: spinocerebellar ataxia 15; sca15 (aka spinocerebellar ataxia type 15/16)
C: spinocerebellar ataxia, autosomal recessive 15; scar15 (aka autosomal recessive spinocerebellar ataxia 15)
D: spinocerebellar ataxia 14 (aka spinocerebellar ataxia ... | B |
<Instruct>: Given the context 'Here we describe this effort and the discovery of deletion at the ITPR1 locus as a cause of this disorder in mice and of spinocerebellar ataxia 15 (SCA15) in humans.
', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: spinocerebellar ataxia 15 (aka spinocerebellar ataxia type 15/16)
B: sca27 (aka spinocerebellar ataxia type 27)
C: sca17 (aka spinocerebellar ataxia type 17)
D: sca18 (aka spinocerebellar ataxia type 18)
E: sca13 (aka spinocerebellar ataxia type 13)
F: sca10 (aka spinocerebellar ataxia type 10)
G: sca20 (... | A |
<Instruct>: Given the context 'Results/Discussion
During the generation of a line of mice with knockout of the gene Park7 we noted an early movement disorder that was inherited independently of targeting vector transmission.', select the correct biomedical concept corresponding to 'movement disorder'. Answer using one... | <Options>: A: movement disease (aka movement disorder)
B: extrapyramidal and movement disease
C: eye movement disorder (aka ocular motility disease)
D: acquired peripheral movement disorder
E: abnormal eye movements (aka neurological disease with abnormal eye movements)
F: neuromuscular disease
G: condition (aka diseas... | A |
<Instruct>: Given the context 'Our initial observations suggested the affected mice suffered from an apparently paroxysmal movement disorder, often induced by touch.', select the correct biomedical concept corresponding to 'movement disorder'. Answer using one of the provided options. | <Options>: A: mental disorder (mental or behavioural disorder) (aka mental disorder)
B: diseases and disorders (aka disease or disorder)
C: muscular disease (disease or disorder of muscle organ) (aka muscular disease)
D: disorder of intestinal motility (aka intestinal motility disease)
E: acquired peripheral movement d... | F |
<Instruct>: Given the context 'The abnormal movements occurred predominantly below the cervical level, and the disorder appeared progressive.', select the correct biomedical concept corresponding to 'disorder'. Answer using one of the provided options. | <Options>: A: mental disorder (aka psychiatric disorder)
B: mental disorder (mental or behavioural disorder) (aka mental disorder)
C: disease qualifier (aka disease characteristic)
D: disorder of organism subdivision (aka disorder by anatomical region)
E: disease of anatomical entity (aka disease by anatomical system)
... | F |
<Instruct>: Given the context 'At initial examination, a human movement disorder specialist (K. G.-H.) likened the disorder to episodic intermittent ataxia or kinesiogenic paroxysmal dystonia and predicted the involvement of an ion channel mutation in the etiology.', select the correct biomedical concept corresponding ... | <Options>: A: mental disorder (mental or behavioural disorder) (aka mental disorder)
B: disorder of muscle organ (aka muscular disease)
C: condition (aka disease or disorder)
D: acquired peripheral movement disorder
E: disorder of eye movements (aka ocular motility disease)
F: movement disorder (movement disorders) (ak... | F |
<Instruct>: Given the context 'At initial examination, a human movement disorder specialist (K. G.-H.) likened the disorder to episodic intermittent ataxia or kinesiogenic paroxysmal dystonia and predicted the involvement of an ion channel mutation in the etiology.', select the correct biomedical concept corresponding ... | <Options>: A: mental disorder (mental or behavioural disorder) (aka mental disorder)
B: mental disorder (aka psychiatric disorder)
C: disease of anatomical system (aka disease by anatomical system)
D: diseases and disorders (aka disease or disorder)
E: disorder by body site (aka disorder by anatomical region)
F: diseas... | D |
<Instruct>: Given the context 'At initial examination, a human movement disorder specialist (K. G.-H.) likened the disorder to episodic intermittent ataxia or kinesiogenic paroxysmal dystonia and predicted the involvement of an ion channel mutation in the etiology.', select the correct biomedical concept corresponding ... | <Options>: A: acquired cerebellar ataxia (aka acquired ataxia)
B: non-hereditary degenerative ataxia
C: ataxia with fasciculations
D: sca (aka hereditary ataxia) (aka hereditary ataxia)
E: ataxia with dementia
F: ataxia, cerebellar (aka cerebellar ataxia)
G: adca (aka autosomal dominant cerebellar ataxia) (aka autosoma... | F |
<Instruct>: Given the context 'At initial examination, a human movement disorder specialist (K. G.-H.) likened the disorder to episodic intermittent ataxia or kinesiogenic paroxysmal dystonia and predicted the involvement of an ion channel mutation in the etiology.', select the correct biomedical concept corresponding ... | <Options>: A: dystonia, hypnogenic paroxysmal (aka nocturnal paroxysmal dystonia)
B: familial dystonia (aka inherited dystonia)
C: dystonic disorder (dystonia disorders) (aka dystonic disorder)
D: focal dystonia
E: psychogenic dystonia (aka psychogenic movement disorders)
F: paroxysmal dystonia
G: nonsyndromic dystonia... | F |
<Instruct>: Given the context 'Breeding experiments suggested that the observed disorder was inherited in an autosomal recessive manner.', select the correct biomedical concept corresponding to 'disorder'. Answer using one of the provided options. | <Options>: A: disease of anatomical entity (aka disease by anatomical system)
B: disease qualifier (aka disease characteristic)
C: disorder of organism subdivision (aka disorder by anatomical region)
D: disorders (aka disease or disorder)
E: mental disorder (aka psychiatric disorder)
F: mental disorder (mental or behav... | D |
<Instruct>: Given the context 'To map the location of the disease-causing lesion, we performed genome-wide linkage analysis using strain-specific single nucleotide polymorphisms (SNPs) at 120 loci across the mouse genome.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provid... | <Options>: A: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
B: disease by infectious agent (aka infectious disease)
C: condition (aka disease or disorder)
D: disease qualifier (aka disease characteristic)
E: disease of anatomical entity (aka disease by anatomical s... | C |
<Instruct>: Given the context 'Analysis of these data showed a single genomic region with significant linkage to disease, providing a two-point LOD score of 5.13 at marker 20.MMHAP85FLG2 on Chromosome 6qE1.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease by body site (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: medical condition (aka disease or disorder)
D: anatomical system disease (aka disease by anatomical system)
E: disease by infectious agent (aka infectious disease)
F: None of the above. | C |
<Instruct>: Given the context 'Literature searches revealed that among disease lines mapped to 6qE1, the spontaneous mutant opt mouse displays a strikingly similar presentation to that described here [1].', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
B: medical condition (aka disease or disorder)
C: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
D: disease by infectious agent (aka infectious disease)
E: ... | B |
<Instruct>: Given the context 'Furthermore, this phenotype was similar, although less severe, to that described in a mouse line with targeted deletion of Itpr1, where ataxia was described as a prominent feature [4].', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided opti... | <Options>: A: cerebellar ataxia (spinocerebellar degeneration) (aka cerebellar ataxia)
B: ataxia with dementia
C: sca (aka hereditary ataxia) (aka hereditary ataxia)
D: non-hereditary degenerative ataxia
E: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
F: sca (aka autosomal dominant cerebellar atax... | A |
<Instruct>: Given the context 'In these two spontaneous mutants [1] and in the Itpr1-deficient mouse [4] generated by gene targeting, decreased Itpr1 expression is associated with the same autosomal recessive movement disorder (Figure 1).
', select the correct biomedical concept corresponding to 'movement disorder'. A... | <Options>: A: mental disorder (mental or behavioural disorder) (aka mental disorder)
B: extrapyramidal and movement disease
C: movement disease (aka movement disorder)
D: neuromuscular disease
E: disorder of intestinal motility (aka intestinal motility disease)
F: disorder of eye movements (aka ocular motility disease)... | C |
<Instruct>: Given the context 'Given our interest in human neurological disease we sought to identify any cognate human disorders where linkage had been established to the syntenic region of the human genome, but where no causal mutation had been identified.', select the correct biomedical concept corresponding to 'neu... | <Options>: A: disease of central nervous system (aka central nervous system disease)
B: neurologic disease (aka nervous system disorder)
C: nerve diseases, peripheral (aka peripheral nervous system disease)
D: None of the above. | B |
<Instruct>: Given the context 'Given our interest in human neurological disease we sought to identify any cognate human disorders where linkage had been established to the syntenic region of the human genome, but where no causal mutation had been identified.', select the correct biomedical concept corresponding to 'dis... | <Options>: A: mental or behavioural disorder (aka mental disorder)
B: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
C: disease of anatomical system (aka disease by anatomical system)
D: mental disorder (aka psychiatric disorder)
E: disease qualifier (aka disease ch... | F |
<Instruct>: Given the context 'SCA15, an adult-onset autosomal dominant progressive ataxia is linked to this locus [5].', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca20 (aka spinocerebellar ataxia type 20)
B: sca11 (aka spinocerebellar ataxia type 11)
C: sca25 (aka spinocerebellar ataxia type 25)
D: sca27 (aka spinocerebellar ataxia type 27)
E: sca10 (aka spinocerebellar ataxia type 10)
F: sca18 (aka spinocerebellar ataxia type 18)
G: sca15 (aka spinocerebellar ata... | G |
<Instruct>: Given the context 'SCA15, an adult-onset autosomal dominant progressive ataxia is linked to this locus [5].', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided options. | <Options>: A: ataxia with fasciculations
B: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
C: spinocerebellar ataxia (aka autosomal dominant cerebellar ataxia)
D: ataxias, cerebellar (aka cerebellar ataxia)
E: non-hereditary degenerative ataxia
F: ataxia with dementia
G: sca (aka hereditary ataxia) ... | D |
<Instruct>: Given the context 'Although missense mutation of ITPR1 had previously been ruled out [2] and the mode of inheritance was inconsistent with that seen in the Itpr1Δ18 and Itpr1opt mice, the phenotypic presence of ataxia in the mice led us to reexamine this candidate gene as a possible cause of SCA15.
', sele... | <Options>: A: adca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
B: ataxia with fasciculations
C: sca (aka hereditary ataxia) (aka hereditary ataxia)
D: ataxia with dementia
E: acquired cerebellar ataxia (aka acquired ataxia)
F: ataxia syndrome (aka cerebellar ataxia)
G: non-here... | F |
<Instruct>: Given the context 'Although missense mutation of ITPR1 had previously been ruled out [2] and the mode of inheritance was inconsistent with that seen in the Itpr1Δ18 and Itpr1opt mice, the phenotypic presence of ataxia in the mice led us to reexamine this candidate gene as a possible cause of SCA15.
', sele... | <Options>: A: spinocerebellar ataxia 15 (aka spinocerebellar ataxia type 15/16)
B: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
C: sca20 (aka spinocerebellar ataxia type 20)
D: sca13 (aka spinocerebellar ataxia type 13)
E: spinocerebellar ataxia type 10 (spinocerebellar ataxia 10; sca10) (aka spinocereb... | A |
<Instruct>: Given the context 'We obtained genomic DNA from three affected family members and one family member with unknown disease status from the kindred originally used to define and map SCA15 (family AUS1, of Australian Anglo-Celtic origin)', select the correct biomedical concept corresponding to 'disease'. Answer... | <Options>: A: disorder of organism subdivision (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: diseases (aka disease or disorder)
D: disease by infectious agent (aka infectious disease)
E: disease of anatomical entity (aka disease by anatomical system)
F: None of the above. | C |
<Instruct>: Given the context 'We obtained genomic DNA from three affected family members and one family member with unknown disease status from the kindred originally used to define and map SCA15 (family AUS1, of Australian Anglo-Celtic origin)', select the correct biomedical concept corresponding to 'sca15'. Answer u... | <Options>: A: sca20 (aka spinocerebellar ataxia type 20)
B: sca27 (aka spinocerebellar ataxia type 27)
C: sca18 (aka spinocerebellar ataxia type 18)
D: sca30 (aka spinocerebellar ataxia type 30)
E: sca11 (aka spinocerebellar ataxia type 11)
F: sca17 (aka spinocerebellar ataxia type 17)
G: sca8 (aka spinocerebellar atax... | J |
<Instruct>: Given the context 'Sequence analysis failed to show any coding alterations segregating with disease or any alterations that were inconsistent with Mendelian patterns of inheritance within the family.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options... | <Options>: A: disorders (aka disease or disorder)
B: disease by infectious agent (aka infectious disease)
C: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
D: disease qualifier (aka disease characteristic)
E: disease of organism subdivision (aka disorder by anatomical re... | A |
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