instruction stringlengths 159 890 | input stringlengths 72 1.7k | response stringclasses 11
values |
|---|---|---|
<Instruct>: Given the context 'In an attempt to define whether this variation was a benign polymorphism we analyzed genome-wide SNP data at this locus, produced using the same genotyping chip, from 577 individuals of European descent who were either controls or individuals with an unrelated neurological disorder.', sel... | <Options>: A: disease of central nervous system (aka central nervous system disease)
B: disorder of peripheral nervous system (aka peripheral nervous system disease)
C: neurosis (aka neurotic disorder)
D: neurologic disorder (aka nervous system disorder)
E: None of the above. | D |
<Instruct>: Given the context 'In an attempt to fine-map the breakpoints of the disease-causing deletion we performed a series of experiments designed to refine the unknown intervals at the edges between definite deleted and definite diploid sequences.', select the correct biomedical concept corresponding to 'disease'.... | <Options>: A: disease of anatomical system (aka disease by anatomical system)
B: disease qualifier (aka disease characteristic)
C: disease by infectious agent (aka infectious disease)
D: other disease (aka disease or disorder)
E: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomic... | D |
<Instruct>: Given the context 'To further establish genetic deletion at ITPR1 as the cause of SCA15 we analyzed two additional families with an inherited cerebellar ataxia similar to that described in the AUS1 family, ascertained through neurology clinics in London, United Kingdom.', select the correct biomedical conce... | <Options>: A: sca25 (aka spinocerebellar ataxia type 25)
B: spinocerebellar ataxia 15 (aka spinocerebellar ataxia type 15/16)
C: sca17 (aka spinocerebellar ataxia type 17)
D: sca28 (aka spinocerebellar ataxia type 28)
E: sca13 (aka spinocerebellar ataxia type 13)
F: sca10 (aka spinocerebellar ataxia type 10)
G: sca8 (f... | B |
<Instruct>: Given the context 'To further establish genetic deletion at ITPR1 as the cause of SCA15 we analyzed two additional families with an inherited cerebellar ataxia similar to that described in the AUS1 family, ascertained through neurology clinics in London, United Kingdom.', select the correct biomedical conce... | <Options>: A: x-linked cerebellar ataxia (cerebellar ataxia, x-linked) (aka x-linked cerebellar ataxia)
B: cerebellar ataxia, autosomal dominant (aka autosomal dominant cerebellar ataxia)
C: spinocerebellar ataxia (aka cerebellar ataxia)
D: autosomal recessive congenital cerebellar ataxia
E: hereditary ataxia (heredita... | E |
<Instruct>: Given the context 'These experiments showed deletion at the SCA15 locus in all affected members assayed, from SUMF1 through ITPR1.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca17 (aka spinocerebellar ataxia type 17)
B: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
C: sca14 (aka spinocerebellar ataxia type 14)
D: sca10 (aka spinocerebellar ataxia type 10)
E: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
F: sca30 (aka spinocerebell... | G |
<Instruct>: Given the context 'These mutations segregated with disease in these two families (Figure S3).', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
B: disease qualifier (aka disease characteristic)
C: disease by body site (aka disorder by anatomical region)
D: disease by infectious agent (aka infectious disease)
E: disease (aka disease or disorder)
F: None... | E |
<Instruct>: Given the context 'With three cerebellar ataxia families segregating a SUMF1–ITPR1 deletion, and this deletion not observed in a control population, we may reasonably conclude that the association is causal, and that the deletion is indeed the genetic basis of the disease, with SCA15 the diagnosis in the tw... | <Options>: A: cerebellar ataxia, autosomal dominant (aka autosomal dominant cerebellar ataxia)
B: hereditary ataxia (hereditary cerebellar ataxia) (aka hereditary ataxia)
C: spinocerebellar ataxia (aka cerebellar ataxia)
D: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
E: None of the above. | C |
<Instruct>: Given the context 'With three cerebellar ataxia families segregating a SUMF1–ITPR1 deletion, and this deletion not observed in a control population, we may reasonably conclude that the association is causal, and that the deletion is indeed the genetic basis of the disease, with SCA15 the diagnosis in the tw... | <Options>: A: disorder of organism subdivision (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: disease of anatomical system (aka disease by anatomical system)
D: medical condition (aka disease or disorder)
E: disease by infectious agent (aka infectious disease)
F: None of the ab... | D |
<Instruct>: Given the context 'With three cerebellar ataxia families segregating a SUMF1–ITPR1 deletion, and this deletion not observed in a control population, we may reasonably conclude that the association is causal, and that the deletion is indeed the genetic basis of the disease, with SCA15 the diagnosis in the tw... | <Options>: A: sca18 (aka spinocerebellar ataxia type 18)
B: sca27 (aka spinocerebellar ataxia type 27)
C: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
D: sca13 (aka spinocerebellar ataxia type 13)
E: sca25 (aka spinocerebellar ataxia type 25)
F: sca10 (aka spinocerebellar ataxia type 10)... | H |
<Instruct>: Given the context 'It is improbable that heterozygosity for the deletion of SUMF1, encoding sulfatase modifying factor 1, of itself causes or contributes to SCA15.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca17 (aka spinocerebellar ataxia type 17)
B: sca27 (aka spinocerebellar ataxia type 27)
C: sca13 (aka spinocerebellar ataxia type 13)
D: sca30 (aka spinocerebellar ataxia type 30)
E: sca14 (aka spinocerebellar ataxia type 14)
F: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)... | H |
<Instruct>: Given the context 'Homozygous mutation of SUMF1 results in autosomal recessive multiple sulfatase deficiency, a metabolic disorder characterized by hepatosplenomegaly, deafness, and developmental delay', select the correct biomedical concept corresponding to 'multiple sulfatase deficiency'. Answer using one... | <Options>: A: galactosamine-6-sulfatase deficiency (aka mucopolysaccharidosis type 4a)
B: mucopolysaccharidosis type 3 (n-sulphoglucosamine sulphohydrolase deficiency) (aka mucopolysaccharidosis type 3)
C: mucopolysaccharidosis type 6 (deficiency of n-acetylgalactosamine-4-sulfatase) (aka mucopolysaccharidosis type 6)
... | D |
<Instruct>: Given the context 'Homozygous mutation of SUMF1 results in autosomal recessive multiple sulfatase deficiency, a metabolic disorder characterized by hepatosplenomegaly, deafness, and developmental delay', select the correct biomedical concept corresponding to 'metabolic disorder'. Answer using one of the pro... | <Options>: A: nutritional or metabolic disease
B: disorder of carbohydrate metabolic process (aka carbohydrate metabolism disease)
C: disorder of energy metabolism (aka inborn disorder of energy metabolism)
D: developmental anomaly of metabolic origin
E: disorder of metabolic process (aka metabolic disease)
F: inborn e... | E |
<Instruct>: Given the context 'No co-occurrence of ataxia has been described in (heterozygous) parents of patients with multiple sulfatase deficiency.', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided options. | <Options>: A: sca (aka hereditary ataxia) (aka hereditary ataxia)
B: ataxia with fasciculations
C: sca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
D: acquired cerebellar ataxia (aka acquired ataxia)
E: rare ataxia (aka cerebellar ataxia)
F: non-hereditary degenerative ataxia
G:... | E |
<Instruct>: Given the context 'No co-occurrence of ataxia has been described in (heterozygous) parents of patients with multiple sulfatase deficiency.', select the correct biomedical concept corresponding to 'multiple sulfatase deficiency'. Answer using one of the provided options. | <Options>: A: multiple sulfatase deficiency (aka mucosulfatidosis)
B: sulfoiduronate sulfatase deficiency (aka mucopolysaccharidosis type 2)
C: heparan sulfate sulfatase deficiency (aka sanfilippo syndrome type a)
D: n-sulphoglucosamine sulphohydrolase deficiency (aka mucopolysaccharidosis type 3)
E: deficiency of n-ac... | A |
<Instruct>: Given the context 'Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of atax... | <Options>: A: non-hereditary degenerative ataxia
B: adca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
C: ataxias, cerebellar (aka cerebellar ataxia)
D: ataxia with dementia
E: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
F: ataxia with fasciculations
G: sca... | C |
<Instruct>: Given the context 'Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of atax... | <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: spinocerebellar ataxia (aka autosomal dominant cerebellar ataxia)
F: non-hereditary degenerative ataxia
G: cerebellar ataxias (... | G |
<Instruct>: Given the context 'Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of atax... | <Options>: A: spinocerebellar ataxia (aka autosomal dominant cerebellar ataxia)
B: non-hereditary degenerative ataxia
C: ataxia with dementia
D: ataxia with fasciculations
E: cerebellar ataxias (aka cerebellar ataxia)
F: sca (aka hereditary ataxia) (aka hereditary ataxia)
G: acquired cerebellar ataxia (aka acquired ata... | E |
<Instruct>: Given the context 'Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of atax... | <Options>: A: ea1 (aka episodic ataxia type 1) (aka episodic ataxia type 1)
B: isaacs syndrome (aka hereditary episodic ataxia)
C: ea3 (aka episodic ataxia type 3) (aka episodic ataxia type 3)
D: familial paroxysmal ataxia (aka episodic ataxia type 2)
E: None of the above. | D |
<Instruct>: Given the context 'Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of atax... | <Options>: A: sca3 (aka machado-joseph disease) (aka machado-joseph disease)
B: spinocerebellar ataxia 8; sca8 (aka spinocerebellar ataxia type 8)
C: sca6 (aka spinocerebellar ataxia type 6) (aka spinocerebellar ataxia type 6)
D: sca12 (aka spinocerebellar ataxia type 12)
E: sca10 (aka spinocerebellar ataxia type 10)
F... | C |
<Instruct>: Given the context 'First, the disease may be a result of haploinsufficiency at ITPR1; this concept is consistent with the observation that heterozygous deletion leads to a later onset disorder in humans, whereas homozygous deletion in mice leads to an early onset disorder, able to be expressed within the mu... | <Options>: A: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
B: disease qualifier (aka disease characteristic)
C: disease by infectious agent (aka infectious disease)
D: disease of organism subdivision (aka disorder by anatomical region)
E: medical condition (aka disease... | E |
<Instruct>: Given the context 'First, the disease may be a result of haploinsufficiency at ITPR1; this concept is consistent with the observation that heterozygous deletion leads to a later onset disorder in humans, whereas homozygous deletion in mice leads to an early onset disorder, able to be expressed within the mu... | <Options>: A: disorder by body site (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: mental disorder (mental or behavioural disorder) (aka mental disorder)
D: anatomical system disease (aka disease by anatomical system)
E: disorder (aka disease or disorder)
F: mental disorder (ak... | E |
<Instruct>: Given the context 'First, the disease may be a result of haploinsufficiency at ITPR1; this concept is consistent with the observation that heterozygous deletion leads to a later onset disorder in humans, whereas homozygous deletion in mice leads to an early onset disorder, able to be expressed within the mu... | <Options>: A: mental disorder (aka psychiatric disorder)
B: disease (aka disease or disorder)
C: mental disorder (mental or behavioural disorder) (aka mental disorder)
D: disorder of anatomical system (aka disease by anatomical system)
E: disorder by body site (aka disorder by anatomical region)
F: disease qualifier (a... | B |
<Instruct>: Given the context 'Second, we cannot rule out the existence of an alternate start site for ITPR1 that may result in a product that confers a pathogenic gain of function to the protein; however, Western blot analysis of cells derived from affected AUS1 family members, which was performed using an antibody ra... | <Options>: A: disorder of organism subdivision (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: disease by infectious agent (aka infectious disease)
D: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
E: disease (aka disease or disor... | E |
<Instruct>: Given the context 'Clearly, the identification of distinct ITPR1 mutations underlying SCA15 will help elucidate the pathogenic mechanism of this disorder.
', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
B: sca10 (aka spinocerebellar ataxia type 10)
C: sca25 (aka spinocerebellar ataxia type 25)
D: sca27 (aka spinocerebellar ataxia type 27)
E: sca16 (formerly) (aka spinocerebellar ataxia type 15/16)
F: sca13 (aka spinocerebellar a... | E |
<Instruct>: Given the context 'Clearly, the identification of distinct ITPR1 mutations underlying SCA15 will help elucidate the pathogenic mechanism of this disorder.
', select the correct biomedical concept corresponding to 'disorder'. Answer using one of the provided options. | <Options>: A: mental disorder (mental or behavioural disorder) (aka mental disorder)
B: mental disorder (aka psychiatric disorder)
C: disorder by body site (aka disorder by anatomical region)
D: disease of anatomical system (aka disease by anatomical system)
E: disorders (aka disease or disorder)
F: disease qualifier (... | E |
<Instruct>: Given the context 'We show here the utility of investigating spontaneous mouse mutations in understanding human disease.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: disease (aka disease or disorder)
C: disease by infectious agent (aka infectious disease)
D: anatomical system disease (aka disease by anatomical system)
E: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region... | B |
<Instruct>: Given the context 'Currently, the small number of aged Itpr1wt/Δ18 animals precludes us from examining these mice for subtle signs and symptoms similar to those seen in SCA15 patients; however, these mice are clearly of interest to us as a potential model of SCA15.', select the correct biomedical concept co... | <Options>: A: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
B: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
C: sca10 (aka spinocerebellar ataxia type 10)
D: sca28 (aka spinocerebellar ataxia type 28)
E: sca14 (aka spinocerebellar ataxia type 14)
F: sca11 (aka spinocerebell... | I |
<Instruct>: Given the context 'Currently, the small number of aged Itpr1wt/Δ18 animals precludes us from examining these mice for subtle signs and symptoms similar to those seen in SCA15 patients; however, these mice are clearly of interest to us as a potential model of SCA15.', select the correct biomedical concept co... | <Options>: A: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
B: sca15/16 (aka spinocerebellar ataxia type 15/16)
C: sca17 (aka spinocerebellar ataxia type 17)
D: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
E: sca11 (aka spinocerebellar ataxia type 11)
F: sca27 (aka spinoce... | B |
<Instruct>: Given the context 'These data also demonstrate that genome-wide SNP assay can facilitate rapid detection of structural genomic mutations that may underlie disease.', 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 by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
D: disease by infectious agent (aka infectious disease)
... | E |
<Instruct>: Given the context 'The data provided by these approaches provide compelling evidence that heterozygous deletion of ITPR1 causes SCA15.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca25 (aka spinocerebellar ataxia type 25)
B: sca30 (aka spinocerebellar ataxia type 30)
C: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
D: sca27 (aka spinocerebellar ataxia type 27)
E: sca28 (aka spinocerebellar ataxia type 28)
F: sca11 (aka spinocerebellar ataxia type 11)
G: spinocerebel... | G |
<Instruct>: Given the context 'Clearly, sequence analysis of ITPR1 in potential SCA15 cases may provide additional insight into the disease, particularly if a stop mutation were to be identified; however, the mutational mechanism noted here means that standard sequencing approaches alone are insufficient to confidently... | <Options>: A: sca10 (aka spinocerebellar ataxia type 10)
B: sca11 (aka spinocerebellar ataxia type 11)
C: sca28 (aka spinocerebellar ataxia type 28)
D: spinocerebellar ataxia 15; sca15 (aka spinocerebellar ataxia type 15/16)
E: sca20 (aka spinocerebellar ataxia type 20)
F: sca14 (aka spinocerebellar ataxia type 14)
G: ... | D |
<Instruct>: Given the context 'Clearly, sequence analysis of ITPR1 in potential SCA15 cases may provide additional insight into the disease, particularly if a stop mutation were to be identified; however, the mutational mechanism noted here means that standard sequencing approaches alone are insufficient to confidently... | <Options>: A: disease qualifier (aka disease characteristic)
B: disease by infectious agent (aka infectious disease)
C: disease of anatomical entity (aka disease by anatomical system)
D: condition (aka disease or disorder)
E: disease of organism subdivision (aka disorder by anatomical region)
F: None of the above. | D |
<Instruct>: Given the context 'Clearly, sequence analysis of ITPR1 in potential SCA15 cases may provide additional insight into the disease, particularly if a stop mutation were to be identified; however, the mutational mechanism noted here means that standard sequencing approaches alone are insufficient to confidently... | <Options>: A: anatomical system disease (aka disease by anatomical system)
B: diseases and disorders (aka disease or disorder)
C: disease of organism subdivision (aka disorder by anatomical region)
D: disease by infectious agent (aka infectious disease)
E: disease qualifier (aka disease characteristic)
F: None of the a... | B |
<Instruct>: Given the context 'Given that SCA16 and autosomal dominant congenital nonprogressive ataxia have both recently been mapped to regions overlapping with the SCA15 locus [10,11], ITPR1 is a gene of importance for screening in these families.', select the correct biomedical concept corresponding to 'sca16'. Ans... | <Options>: A: sca16 (formerly) (aka spinocerebellar ataxia type 15/16)
B: sca18 (aka spinocerebellar ataxia type 18)
C: spinocerebellar ataxia, autosomal recessive type 16 (aka autosomal recessive spinocerebellar ataxia 16)
D: sca38 (aka spinocerebellar ataxia type 38)
E: sca10 (aka spinocerebellar ataxia type 10)
F: s... | A |
<Instruct>: Given the context 'Given that SCA16 and autosomal dominant congenital nonprogressive ataxia have both recently been mapped to regions overlapping with the SCA15 locus [10,11], ITPR1 is a gene of importance for screening in these families.', select the correct biomedical concept corresponding to 'congenital'... | <Options>: A: congenital or acquired
B: defect/deformity, congenital (aka congenital abnormality)
C: congenital malformation syndrome (aka developmental defect during embryogenesis)
D: inborn (aka congenital)
E: None of the above. | D |
<Instruct>: Given the context 'Given that SCA16 and autosomal dominant congenital nonprogressive ataxia have both recently been mapped to regions overlapping with the SCA15 locus [10,11], ITPR1 is a gene of importance for screening in these families.', select the correct biomedical concept corresponding to 'ataxia'. An... | <Options>: A: sca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
B: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
C: sca (aka hereditary ataxia) (aka hereditary ataxia)
D: spinocerebellar ataxia (aka cerebellar ataxia)
E: ataxia with dementia
F: ataxia with fa... | D |
<Instruct>: Given the context 'Given that SCA16 and autosomal dominant congenital nonprogressive ataxia have both recently been mapped to regions overlapping with the SCA15 locus [10,11], ITPR1 is a gene of importance for screening in these families.', select the correct biomedical concept corresponding to 'sca15'. Ans... | <Options>: A: sca27 (aka spinocerebellar ataxia type 27)
B: sca15 (aka spinocerebellar ataxia type 15/16)
C: sca30 (aka spinocerebellar ataxia type 30)
D: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
E: sca25 (aka spinocerebellar ataxia type 25)
F: sca11 (aka spinocerebellar ataxia type 11)
G: sca14 (ak... | B |
<Instruct>: Given the context 'These data add weight to a role for aberrant intracellular Ca2+ signaling in Purkinje cells in the pathogenesis of spinocerebellar ataxia.
', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided options. | <Options>: A: sca (aka hereditary ataxia) (aka hereditary ataxia)
B: acquired ataxia (acquired cerebellar ataxia) (aka acquired ataxia)
C: sca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
D: ataxia syndrome (aka cerebellar ataxia)
E: non-hereditary degenerative ataxia
F: ataxia ... | D |
<Instruct>: Given the context 'In an attempt to narrow the disease interval we performed backcross experiments that resulted in the generation of three additional affected mice.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: anatomical system disease (aka disease by anatomical system)
C: disease by infectious agent (aka infectious disease)
D: medical condition (aka disease or disorder)
E: disease by body site (aka disorder by anatomical region)
F: None of the above. | D |
<Instruct>: Given the context 'Genotyping of all affected mice across the disease-segregating interval revealed flanking recombinants and a candidate region of ~5 Mb, between markers D6Mit37 and 44.MMHAP85FLG5 (Figure S1).', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provi... | <Options>: A: disease by infectious agent (aka infectious disease)
B: anatomical system disease (aka disease by anatomical system)
C: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
D: disease qualifier (aka disease characteristic)
E: other disease (aka disease or di... | E |
<Instruct>: Given the context 'This revealed the Itpr1opt/opt mouse, in which disease is caused by homozygous deletion mutation of exons 43 and 44 of Itpr1.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: disorder of organism subdivision (aka disorder by anatomical region)
C: disease of anatomical entity (aka disease by anatomical system)
D: disease by infectious agent (aka infectious disease)
E: disease or disorder, non-neoplastic (aka disease or disorder)... | E |
<Instruct>: Given the context 'Analysis of ITPR1 in SCA15 patients.
', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca30 (aka spinocerebellar ataxia type 30)
B: sca25 (aka spinocerebellar ataxia type 25)
C: sca20 (aka spinocerebellar ataxia type 20)
D: spinocerebellar ataxia 15; sca15 (aka spinocerebellar ataxia type 15/16)
E: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
F: sca17 (aka spinocerebellar a... | D |
<Instruct>: Given the context 'Western blot analysis in SCA15 patients.
', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca27 (aka spinocerebellar ataxia type 27)
B: sca18 (aka spinocerebellar ataxia type 18)
C: sca14 (aka spinocerebellar ataxia type 14)
D: spinocerebellar ataxia 15 (aka spinocerebellar ataxia type 15/16)
E: sca13 (aka spinocerebellar ataxia type 13)
F: spinocerebellar ataxia type 10 (spinocerebellar ataxi... | D |
<Instruct>: Given the context 'The black box bounds a region of homozygous 129x1/SvJ genotypes that segregate with disease; thus, the critical region was determined to be between markers D6Mit37 and 44.MMHAP85FLG5.
(10 MB TIF)
', select the correct biomedical concept corresponding to 'disease'. Answer using one of th... | <Options>: A: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
B: disorder (aka disease or disorder)
C: disease by infectious agent (aka infectious disease)
D: disease qualifier (aka disease characteristic)
E: disease by body site (aka disorder by anatomical region)
F: Non... | B |
<Instruct>: Given the context 'Figure S3
Additional Families Harboring Deletion at the SCA15 Locus
(A) Family H33; (B) family H27.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca18 (aka spinocerebellar ataxia type 18)
B: sca13 (aka spinocerebellar ataxia type 13)
C: sca8 (aka spinocerebellar ataxia type 8) (aka spinocerebellar ataxia type 8)
D: sca11 (aka spinocerebellar ataxia type 11)
E: sca28 (aka spinocerebellar ataxia type 28)
F: spinocerebellar ataxia 16 (aka spinocerebe... | F |
<Instruct>: Given the context 'Acknowledgements
We thank the SCA15 family members for participating in this study.
', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca27 (aka spinocerebellar ataxia type 27)
B: sca20 (aka spinocerebellar ataxia type 20)
C: spinocerebellar ataxia type 10 (spinocerebellar ataxia 10; sca10) (aka spinocerebellar ataxia type 10)
D: sca15 (aka spinocerebellar ataxia type 15/16)
E: sca28 (aka spinocerebellar ataxia type 28)
F: sca18 (aka sp... | D |
<Instruct>: Given the context 'Abbreviations
EBV - Epstein-Barr virus
SCA[number] - spinocerebellar ataxia', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided options. | <Options>: A: sca (aka hereditary ataxia) (aka hereditary ataxia)
B: non-hereditary degenerative ataxia
C: ataxia with dementia
D: adca (aka autosomal dominant cerebellar ataxia) (aka autosomal dominant cerebellar ataxia)
E: acquired cerebellar ataxia (aka acquired ataxia)
F: ataxia with fasciculations
G: cerebellar at... | G |
<Instruct>: Given the context 'Figure 3
Mutation Analysis in the Australian SCA15 Family
(Top) Pedigree of kindred.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca27 (aka spinocerebellar ataxia type 27)
B: sca20 (aka spinocerebellar ataxia type 20)
C: sca17 (aka spinocerebellar ataxia type 17)
D: spinocerebellar ataxia 15 (aka spinocerebellar ataxia type 15/16)
E: sca8 (formerly) (aka infantile onset spinocerebellar ataxia)
F: sca25 (aka spinocerebellar ataxia t... | D |
<Instruct>: Given the context 'Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier.', 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: disease by infectious agent (aka infectious disease)
D: disease of anatomical system (aka disease by anatomical system)
E: disorder (aka disease or disorder)
F: None of the above. | E |
<Instruct>: Given the context '(Middle) Schematic of primer pairs used to narrow the unknown regions between known deleted sequence and known diploid sequence at the SCA15 locus.', select the correct biomedical concept corresponding to 'sca15'. Answer using one of the provided options. | <Options>: A: sca30 (aka spinocerebellar ataxia type 30)
B: sca20 (aka spinocerebellar ataxia type 20)
C: sca25 (aka spinocerebellar ataxia type 25)
D: sca17 (aka spinocerebellar ataxia type 17)
E: sca11 (aka spinocerebellar ataxia type 11)
F: sca13 (aka spinocerebellar ataxia type 13)
G: sca14 (aka spinocerebellar ata... | I |
<Instruct>: Given the context 'Gel showing amplification product using primer pair T3f and C11r from affected pedigree members 6, 7, and 19; in pedigree member 23, with unknown disease affection status; in a neurologically normal control (C); and in a no template control (NC).
', select the correct biomedical concept ... | <Options>: A: disease of organism subdivision (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: disease by infectious agent (aka infectious disease)
D: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
E: condition (aka disease or diso... | E |
<Instruct>: Given the context 'Figure 4
Western Blot Analysis of ITPR1 Protein Levels in EBV Immortalized Lymphoblasts from AUS1 Family Members
Western blot performed to examine ITPR1 levels in EBV immortalized lymphocytes from AUS1 affected family members carrying the ITPR1 deletion and from an AUS1 family member of... | <Options>: A: other disease (aka disease or disorder)
B: disease by infectious agent (aka infectious disease)
C: anatomical system disease (aka disease by anatomical system)
D: disease qualifier (aka disease characteristic)
E: disease of organism subdivision (aka disorder by anatomical region)
F: None of the above. | A |
<Instruct>: Given the context 'This research was funded in part by the intramural programs of the National Institute on Aging and the National Institute on Neurological Disorders and Stroke (NINDS), both of the National Institutes of Health, Department of Health and Human Services, United States of America.', select th... | <Options>: A: central nervous system disease or disorder (aka central nervous system disease)
B: neurologic disorder (aka nervous system disorder)
C: neurosis (aka neurotic disorder)
D: peripheral nervous system disease or disorder (aka peripheral nervous system disease)
E: None of the above. | B |
<Instruct>: Given the context 'This research was funded in part by the intramural programs of the National Institute on Aging and the National Institute on Neurological Disorders and Stroke (NINDS), both of the National Institutes of Health, Department of Health and Human Services, United States of America.', select th... | <Options>: A: brain infarction
B: large artery stroke
C: cva (cerebral vascular accident) (aka cerebrovascular disorder)
D: cva (aka stroke disorder) (aka stroke disorder)
E: infarction, cerebral (aka cerebral infarction)
F: None of the above. | D |
<Instruct>: Given the context 'This BXH.ApoE−/− population recapitulates several “metabolic syndrome” phenotypes.', select the correct biomedical concept corresponding to 'metabolic syndrome'. Answer using one of the provided options. | <Options>: A: metabolic syndrome 10 (aka metabolic syndrome x)
B: metabolic syndrome (metabolic syndrome x) (aka metabolic syndrome)
C: syndrome associated with obesity (disease) (aka syndromic genetic obesity)
D: abdominal obesity-metabolic syndrome
E: glucose metabolism disease (disorder of glucose metabolism) (aka g... | B |
<Instruct>: Given the context 'Synopsis
Although their genomes are nearly identical, the males and females of a species exhibit striking differences in many traits, including complex traits such as obesity.', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: severe obesity (aka morbid obesity)
B: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
C: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
D: genetic obesity (aka monogenic obesity)
E: abdominal obesity-metabolic syndrome
F: overgrowth/obesity syndrome
G: obesity due ... | H |
<Instruct>: Given the context 'The results are used to explore the relationship between genetic variation, sexual differentiation, and obesity in the mouse model.', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: overgrowth/obesity syndrome
B: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
C: monogenic isolated obesity (aka genetic non-syndromic obesity)
D: abdominal obesity-metabolic syndrome
E: severe obesity (aka morbid obesity)
F: genetic obesity (aka monogenic obesity)
G: obesity due t... | J |
<Instruct>: Given the context 'Four of the five loci exhibited opposite effects on obesity in the two sexes, a phenomenon known as sexual antagonism.', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: abdominal obesity-metabolic syndrome
B: obesity due to congenital leptin resistance
C: overgrowth/obesity syndrome
D: genetic obesity (aka monogenic obesity)
E: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
F: monogenic isolated obesity (aka genetic non-syndromic obesit... | H |
<Instruct>: Given the context 'To identify candidate genes that may be involved in obesity through their expression in the liver, global gene expression analysis was employed using microarrays.', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: obesity (aka obesity disorder)
B: obesity, morbid, nonsyndromic 1 (aka obesity due to congenital leptin deficiency)
C: overgrowth/obesity syndrome
D: obesity due to congenital leptin resistance
E: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
F: abdominal obesity-metabolic syndrome
G: sy... | A |
<Instruct>: Given the context 'This region of the genome colocalizes with a clinical QTL for gonadal fat mass, suggesting that it harbors a good candidate gene for obesity.
', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: overgrowth/obesity syndrome
B: syndromic genetic obesity (syndrome associated with obesity (disease)) (aka syndromic genetic obesity)
C: abdominal obesity-metabolic syndrome
D: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
E: obesity (aka obesity disorder)
F: abdominal obesity met... | E |
<Instruct>: Given the context 'Introduction
Females and males share nearly identical genetic information, but vary widely with respect to disease susceptibility [1,2].', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disease qualifier (aka disease characteristic)
B: other disease (aka disease or disorder)
C: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
D: disease by anatomical system (disorder of anatomical system) (aka disease by anatomical system)
E: disease by... | B |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: disease of anatomical entity (aka disease by anatomical system)
B: disease qualifier (aka disease characteristic)
C: disease (aka disease or disorder)
D: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical region)
E: None of the above. | C |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: cancer of the cervix (aka cervical carcinoma)
B: cervical cancer (malignant neoplasm of the uterine cervix) (aka cervical cancer)
C: None of the above. | B |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: malignant neoplasm of prostate (aka prostate cancer)
B: prostate gland carcinoma (aka prostate carcinoma)
C: None of the above. | A |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: disorder of anatomical (aka disorder by anatomical region)
B: disease qualifier (aka disease characteristic)
C: anatomical system disease (aka disease by anatomical system)
D: condition (aka disease or disorder)
E: None of the above. | D |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: generalised atherosclerosis (aka generalized atherosclerosis)
B: aortic atherosclerosis (disease) (atherosclerosis of aorta) (aka aortic atherosclerosis (disease))
C: cardiovascular arteriosclerosis (aka arteriosclerosis disorder)
D: atherosclerosis (atherosclerotic cardiovascular disease) (aka atheroscle... | D |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: type 1 diabetes mellitus (insulin-dependent diabetes mellitus) (aka type 1 diabetes mellitus)
B: diabetes (aka diabetes mellitus (disease))
C: type ii diabetes mellitus (aka type 2 diabetes mellitus)
D: None of the above. | B |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: hypertriglyceridemia (aka hypertriglyceridemia (disease))
B: familial combined hyperlipidemia (disorder) [ambiguous] (aka familial combined hyperlipidemia)
C: hyperlipoproteinemia
D: hyperlipidaemia (aka familial hyperlipidemia)
E: lipidemia (aka hyperlipidemia (disease))
F: dyslipidemia (aka inherited li... | E |
<Instruct>: Given the context 'Apart from the obvious gender-specific diseases such as cervical or prostate cancer, sex influences susceptibility to nearly all highly prevalent diseases that affect both women and men, including atherosclerosis and diabetes and their precursor conditions of hyperlipidemia, obesity, and ... | <Options>: A: overgrowth/obesity syndrome
B: obesity (aka obesity disorder)
C: abdominal obesity-metabolic syndrome
D: genetic isolated obesity (aka genetic non-syndromic obesity)
E: obesity due to congenital leptin resistance
F: genetic obesity (disease) (aka monogenic obesity)
G: severe obesity (aka morbid obesity)
H... | B |
<Instruct>: Given the context 'Although the sex differences in disease susceptibility are recognized, the interplay between sex and gene expression that is at the basis of these differences is not well understood.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided optio... | <Options>: A: anatomical system disease (aka disease by anatomical system)
B: diseases and disorders (aka disease or disorder)
C: disease qualifier (aka disease characteristic)
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 'Females and males inherit (on average) the same genes that may be risk factors, but their expression and effect on disease risk varies significantly.', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: disorder (aka disease or disorder)
B: anatomical system disease (aka disease by anatomical system)
C: disease by body site (aka disorder by anatomical region)
D: disease by infectious agent (aka infectious disease)
E: disease qualifier (aka disease characteristic)
F: None of the above. | A |
<Instruct>: Given the context 'An understanding and recognition of the significance of specific disease-associated polymorphisms/mutations in the context of sex is therefore of critical clinical importance.
', select the correct biomedical concept corresponding to 'disease'. Answer using one of the provided options. | <Options>: A: anatomical system disease (aka disease by anatomical system)
B: disorder (aka disease or disorder)
C: disease by infectious agent (aka infectious disease)
D: disease qualifier (aka disease characteristic)
E: disorder by anatomical region (disorder of organism subdivision) (aka disorder by anatomical regio... | B |
<Instruct>: Given the context 'We have utilized the mouse as a model system to study the genetics of metabolic and vascular diseases [3–5].', select the correct biomedical concept corresponding to 'metabolic diseases'. Answer using one of the provided options. | <Options>: A: metabolic disease (disorder of metabolic process) (aka metabolic disease)
B: intestine metabolic disease (aka metabolic disease with intestinal involvement)
C: nutritional or metabolic disease
D: disorder of glucose metabolism (aka glucose metabolism disease)
E: disorder of carbohydrate metabolism (aka ca... | A |
<Instruct>: Given the context 'We have utilized the mouse as a model system to study the genetics of metabolic and vascular diseases [3–5].', select the correct biomedical concept corresponding to 'vascular diseases'. Answer using one of the provided options. | <Options>: A: vascular skin disease (aka skin vascular disease)
B: disease, peripheral vascular (aka peripheral vascular disease)
C: disorder of cardiovascular system (aka cardiovascular disease)
D: vascular tissue disease (aka vascular disease)
E: None of the above. | D |
<Instruct>: Given the context 'Here we report the application of this integrated approach to study the significance of sex on the genetic determinants of obesity and the associated regulation of liver gene expression in an F2 intercross derived from the inbred strains C57BL/6J (B6) and C3H/HeJ (C3H) on an apolipoprotei... | <Options>: A: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
B: obesity due to congenital leptin resistance
C: abdominal obesity-metabolic syndrome
D: syndrome associated with obesity (disease) (aka syndromic genetic obesity)
E: obesity disease (aka obesity disorder)
F: severe obesity (aka morbi... | E |
<Instruct>: Given the context 'The BXH.ApoE−/− population was designed to recapitulate several of the phenotypes associated with the so-called metabolic syndrome.', select the correct biomedical concept corresponding to 'metabolic syndrome'. Answer using one of the provided options. | <Options>: A: acquired metabolic disease
B: metabolic syndrome x (aka metabolic syndrome)
C: intestine metabolic disease (aka metabolic disease with intestinal involvement)
D: metabolic disease (disorder of metabolic process) (aka metabolic disease)
E: dysmetabolic syndrome x (aka metabolic syndrome x)
F: metabolic dis... | B |
<Instruct>: Given the context 'Discussion
In this study, we described a large, densely mapped, segregating F2 mouse population designed to study the genetic regulation of several traits associated with the so-called metabolic syndrome.', select the correct biomedical concept corresponding to 'metabolic syndrome'. Answ... | <Options>: A: nutritional or metabolic disease
B: acquired metabolic disease
C: syndrome associated with obesity (disease) (aka syndromic genetic obesity)
D: abdominal obesity-metabolic syndrome
E: metabolic disease with skin involvement
F: glucose metabolism disease (disorder of glucose metabolism) (aka glucose metabo... | G |
<Instruct>: Given the context 'Significant Sex Bias in the Regulation of Both Complex Traits and Gene Expression
Given the known dichotomy between females and males in the susceptibility and control of obesity, this study was designed to sufficiently power the detection of significant QTLs for this and other traits wi... | <Options>: A: obesity due to congenital leptin resistance
B: overgrowth/obesity syndrome
C: abdominal obesity-metabolic syndrome
D: obesity disease (aka obesity disorder)
E: syndromic obesity (disease) (aka syndromic genetic obesity)
F: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
G: severe ob... | D |
<Instruct>: Given the context 'QTLs associated with obesity, gonadal fat, and abdominal fat have been reported before overlapping with cQTLs on Chromosomes 1', select the correct biomedical concept corresponding to 'obesity'. Answer using one of the provided options. | <Options>: A: overgrowth/obesity syndrome
B: abdominal obesity-metabolic syndrome
C: obesity disorder (obesity disease) (aka obesity disorder)
D: abdominal obesity metabolic syndrome (aka metabolic syndrome x)
E: obesity, susceptibility to (aka distal 16p11.2 microdeletion syndrome)
F: genetic obesity (aka monogenic ob... | C |
<Instruct>: Given the context 'Interestingly, significant heritability and genetic regulation was seen in this F2 population despite the hyperlipidemic, proinflammatory ApoE−/− background and the high-fat Western diet.', select the correct biomedical concept corresponding to 'hyperlipidemic'. Answer using one of the pr... | <Options>: A: hypolipoproteinemia (aka hypolipoproteinemia (disease))
B: hyperbetalipoproteinemia (aka familial hypercholesterolemia)
C: endogenous hyperlipidaemia (aka hyperlipoproteinemia type iv)
D: familial combined hyperlipidemia (disorder) [ambiguous] (aka familial combined hyperlipidemia)
E: hyperlipemia (aka fa... | F |
<Instruct>: Given the context 'This background possesses several advantages, such as allowing the modeling of human-like disease states.', 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: disease qualifier (aka disease characteristic)
C: disease by infectious agent (aka infectious disease)
D: disease of anatomical system (aka disease by anatomical system)
E: disease or disorder, non-neop... | E |
<Instruct>: Given the context 'We reported here on the initial genetic and genomic analysis of an F2 intercross population designed to recapitulate several traits associated with human metabolic syndrome.', select the correct biomedical concept corresponding to 'metabolic syndrome'. Answer using one of the provided opt... | <Options>: A: abdominal obesity-metabolic syndrome
B: abdominal obesity-metabolic syndrome 1 (aka metabolic syndrome x)
C: intestine metabolic disease (aka metabolic disease with intestinal involvement)
D: disease of metabolism (aka metabolic disease)
E: glucose metabolism disease (disorder of glucose metabolism) (aka ... | I |
<Instruct>: Given the context 'BRCA2 and homologous recombination
Abstract
Two recent papers provide new evidence relevant to the role of the breast cancer susceptibility gene BRCA2 in DNA repair.', select the correct biomedical concept corresponding to 'breast cancer'. Answer using one of the provided options. | <Options>: A: malignant tumor of breast (aka breast cancer)
B: breast cancer, nos (aka breast carcinoma)
C: female breast cancer (aka female breast carcinoma)
D: None of the above. | A |
<Instruct>: Given the context 'Keywords: breast cancer, homologous recombination
BRCA2
BRCA2 was the second breast cancer susceptibility gene to be discovered, and was isolated through positional cloning using data from families with inherited breast cancer', select the correct biomedical concept corresponding to 'br... | <Options>: A: mammary neoplasm (aka breast cancer)
B: mammary carcinoma (aka breast carcinoma)
C: female breast cancer (aka female breast carcinoma)
D: None of the above. | A |
<Instruct>: Given the context 'Keywords: breast cancer, homologous recombination
BRCA2
BRCA2 was the second breast cancer susceptibility gene to be discovered, and was isolated through positional cloning using data from families with inherited breast cancer', select the correct biomedical concept corresponding to 'br... | <Options>: A: breast cancer (aka breast carcinoma)
B: breast tumor (aka breast cancer)
C: female breast cancer (aka female breast carcinoma)
D: None of the above. | B |
<Instruct>: Given the context 'Keywords: breast cancer, homologous recombination
BRCA2
BRCA2 was the second breast cancer susceptibility gene to be discovered, and was isolated through positional cloning using data from families with inherited breast cancer', select the correct biomedical concept corresponding to 'br... | <Options>: A: breast tumor (aka breast cancer)
B: female breast cancer (aka female breast carcinoma)
C: mammary carcinoma (aka breast carcinoma)
D: None of the above. | A |
<Instruct>: Given the context 'Cells with mutant BRCA2 protein are, like many cancer cells, genetically unstable and accumulate gross chromosomal rearrangements [5,6].', select the correct biomedical concept corresponding to 'cancer'. Answer using one of the provided options. | <Options>: A: neoplastic disease or syndrome (neoplastic disorder) (aka neoplastic disease or syndrome)
B: epithelial carcinoma (aka carcinoma)
C: neoplasm (aka neoplasm (disease))
D: cell type cancer (aka cancer)
E: None of the above. | D |
<Instruct>: Given the context 'The sequence of this large protein (3418 amino acids) offers very little clue to its function, although there are eight repeated segments (termed BRC repeats) in the middle of the protein that are highly conserved among mammalian orthologs [7,8].
Breast cancer susceptibility genes and DN... | <Options>: A: female breast cancer (aka female breast carcinoma)
B: mammary neoplasm (aka breast cancer)
C: breast cancer (aka breast carcinoma)
D: None of the above. | B |
<Instruct>: Given the context 'Expression of I-SceI resulted in 1 out of 1400 cells producing GFP via homologous recombination in the human pancreatic tumor cell line CAPAN-1.', select the correct biomedical concept corresponding to 'pancreatic tumor'. Answer using one of the provided options. | <Options>: A: pancreas cancer (aka malignant pancreatic neoplasm)
B: pancreatic tumor (aka pancreatic neoplasm)
C: rare epithelial tumor of pancreas (rare pancreatic epithelial tumor) (aka rare epithelial tumor of pancreas)
D: pancreatic endocrine neoplasm (aka pancreatic neuroendocrine neoplasm)
E: pancreatic endocrin... | B |
<Instruct>: Given the context 'The authors indicate that the level of I-SceI-induced recombination in CAPAN-1 is over 100-fold less than that seen using other (BRCA2+) human tumor cell lines.', select the correct biomedical concept corresponding to 'tumor'. Answer using one of the provided options. | <Options>: A: neoplastic polyp
B: neoplastic growth (aka neoplasm (disease))
C: neoplastic disease (aka neoplastic disease or syndrome)
D: tumor syndrome (aka neoplastic syndrome)
E: malignant neoplasm (disease) (aka cancer)
F: None of the above. | B |
<Instruct>: Given the context 'The localization of RAD51 was examined in CAPAN-1 cells, the same human tumor line examined by Moynahan et al', select the correct biomedical concept corresponding to 'tumor'. Answer using one of the provided options. | <Options>: A: cancer (neoplasm (disease), malignant) (aka cancer)
B: tumor syndrome (aka neoplastic syndrome)
C: tumor (aka neoplasm (disease))
D: neoplastic disease (aka neoplastic disease or syndrome)
E: neoplastic polyp
F: None of the above. | C |
<Instruct>: Given the context 'Pygo2 homozygous mutants, with rare exception, died shortly after birth, with a phenotype including lens agenesis, growth retardation, altered kidney development, and in some cases exencephaly and cleft palate.', select the correct biomedical concept corresponding to 'cleft palate'. Answe... | <Options>: A: soft cleft palate (aka cleft soft palate)
B: orofacial cleft
C: cheiloschisis (aka cleft lip (disease))
D: cleft palate (uranostaphyloschisis) (aka cleft palate)
E: cleft palate (aka isolated cleft palate)
F: submucosal cleft palate
G: cleft hard palate
H: cleft lip and palate (aka cleft lip/palate)
I: cl... | D |
<Instruct>: Given the context 'The Pygo2 mutants did, however, show growth retardation, lens agenesis and a kidney phenotype with high penetrance, exencephaly, and cleft palate with incomplete penetrance.
', select the correct biomedical concept corresponding to 'cleft palate'. Answer using one of the provided options... | <Options>: A: cheiloschisis (aka cleft lip (disease))
B: submucosal cleft palate
C: cleft lip and alveolus
D: orofacial cleft
E: isolated cleft palate (cpi (aka isolated cleft palate))
F: cleft hard palate
G: cleft velum (aka cleft palate)
H: soft cleft palate (aka cleft soft palate)
I: cleft lip and palate (aka cleft ... | G |
<Instruct>: Given the context 'Kallikreins have diverse functions in cancer, tissue remodeling, and regulation of blood pressure', select the correct biomedical concept corresponding to 'cancer'. Answer using one of the provided options. | <Options>: A: neoplastic disease or syndrome (neoplastic disorder) (aka neoplastic disease or syndrome)
B: neoplasia (aka neoplasm (disease))
C: malignancy (aka cancer)
D: carcinoma, nos (aka carcinoma)
E: None of the above. | C |
<Instruct>: Given the context 'Disruption of the renin-angiotensin system during development results in congenital abnormalities of the ureter and collecting-duct system [27].', select the correct biomedical concept corresponding to 'congenital abnormalities'. Answer using one of the provided options. | <Options>: A: congenital malformation syndrome (aka developmental defect during embryogenesis)
B: congenital anomaly (aka congenital abnormality)
C: congenital or acquired
D: None of the above. | B |
<Instruct>: Given the context 'Production and characterization of murine models of classic and intermediate maple syrup urine disease
Abstract
Background
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase.', select the correct biomedical... | <Options>: A: e3-deficient maple syrup urine disease (aka pyruvate dehydrogenase e3 deficiency)
B: maple syrup urine disease, intermediate (aka maple syrup urine disease)
C: intermediate maple syrup urine disease (intermediate branched-chain alpha-ketoacid dehydrogenase deficiency) (aka intermediate maple syrup urine d... | D |
<Instruct>: Given the context 'Production and characterization of murine models of classic and intermediate maple syrup urine disease
Abstract
Background
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase.', select the correct biomedical... | <Options>: A: branched chain ketoaciduria (aka maple syrup urine disease)
B: intermediate bckd deficiency (aka intermediate maple syrup urine disease)
C: intermittent branched-chain alpha-ketoacid dehydrogenase deficiency (aka intermittent maple syrup urine disease)
D: classic msud (aka classic maple syrup urine diseas... | B |
<Instruct>: Given the context 'Production and characterization of murine models of classic and intermediate maple syrup urine disease
Abstract
Background
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase.', select the correct biomedical... | <Options>: A: e3-deficient maple syrup urine disease (aka pyruvate dehydrogenase e3 deficiency)
B: classic maple syrup urine disease (classic branched-chain alpha-ketoacid dehydrogenase deficiency) (aka classic maple syrup urine disease)
C: intermediate maple syrup urine disease (intermediate branched-chain alpha-ketoa... | D |
<Instruct>: Given the context 'Production and characterization of murine models of classic and intermediate maple syrup urine disease
Abstract
Background
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase.', select the correct biomedical... | <Options>: A: semd, micromelic (aka micromelic dwarfism, fryns type)
B: thiamine-responsive msud (aka thiamine-responsive maple syrup urine disease)
C: semd, missouri type (aka spondyloepimetaphyseal dysplasia, missouri type)
D: maple syrup urine disease, mild variant (maple syrup urine disease, mild variant; msudmv) (... | J |
<Instruct>: Given the context 'Production and characterization of murine models of classic and intermediate maple syrup urine disease
Abstract
Background
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase.', select the correct biomedical... | <Options>: A: genetic disease (aka mendelian disease)
B: developmental anomaly of metabolic origin
C: inborn carbohydrate metabolism disorder (aka inborn carbohydrate metabolic disorder)
D: inborn mitochondrial metabolism disorder (mitochondrial metabolism disease) (aka inborn mitochondrial metabolism disorder)
E: inbo... | F |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.