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<Instruct>: Given the context 'Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction.', select the correct biomedical concept corresponding to 'neurologic dysfunction'. Answer using one of the provided options. | <Options>: A: neurologic dysfunctions (aka neurologic manifestations)
B: disorder, neurological (aka nervous system diseases)
C: None of the above. | A |
<Instruct>: Given the context 'Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized.', select the correct biomedical concept corresponding to 'adrenomyeloneuropathy'. Answer using one of the provided options. | <Options>: A: diseases, adrenal gland (aka adrenal gland diseases)
B: ans diseases (aka autonomic nervous system diseases)
C: adrenomyodystrophy
D: disease, adrenal cortex (aka adrenal cortex diseases)
E: adrenomyeloneuropathy (aka adrenoleukodystrophy)
F: None of the above. | E |
<Instruct>: Given the context 'Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized.', select the correct biomedical concept corresponding to 'addison disease'. Answer using one of the provided options. | <Options>: A: addison disease, x linked (aka hypoadrenocorticism, familial)
B: disease, addison (aka addison disease)
C: anemia, addison's (aka anemia, pernicious)
D: addison disease, congenital (aka adrenocortical hypofunction, chronic primary congenital)
E: achalasia-addisonian syndrome (aka achalasia addisonianism a... | B |
<Instruct>: Given the context 'OBJECTIVES To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients.', select the correct biomedical concept corresponding t... | <Options>: A: aldosteronism (aka hyperaldosteronism)
B: aortic diseases
C: x-ald (x-linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
D: alexander disease
E: alds (aka albinism deafness syndrome)
F: None of the above. | C |
<Instruct>: Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', select the correct biomedical concept corresponding to 'childhood cerebral ald'. Answer using one of the provided options. | <Options>: A: adult learning disorders (aka learning disabilities)
B: deficiency, aldob (aka fructose intolerance)
C: red cell aldolase deficiency (aka glycogen storage disease xii)
D: alexander's disease (aka alexander disease)
E: x ald (x linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
F: None of the above. | E |
<Instruct>: Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', select the correct biomedical concept corresponding to 'cerebral ald'. Answer using one of the provided options. | <Options>: A: aldoa deficiency (aka glycogen storage disease xii)
B: disease, aortic (aka aortic diseases)
C: alexanders disease (aka alexander disease)
D: x ald (x linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
E: deficiency, aldob (aka fructose intolerance)
F: None of the above. | D |
<Instruct>: Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', select the correct biomedical concept corresponding to 'adrenomyeloneuropathy'. Answer using one of the provided options. | <Options>: A: autonomic nervous system diseases
B: disease, adrenal cortex (aka adrenal cortex diseases)
C: adrenomyodystrophy
D: adrenomyeloneuropathy (aka adrenoleukodystrophy)
E: disease, adrenal gland (aka adrenal gland diseases)
F: None of the above. | D |
<Instruct>: Given the context 'We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblas... | <Options>: A: ald (aka adrenoleukodystrophy)
B: aldosteronism (aka hyperaldosteronism)
C: alexander disease
D: atherosclerosis
E: aldob deficiency (aka fructose intolerance)
F: None of the above. | A |
<Instruct>: Given the context 'RESULTS Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements.', select the correct biomedical concept corresponding to 'cerebral ald'. Answer using one of the provided options. | <Options>: A: aortic diseases
B: aldoa deficiency (aka glycogen storage disease xii)
C: aldob deficiencies (aka fructose intolerance)
D: alexanders disease (aka alexander disease)
E: adrenoleukodystrophy
F: None of the above. | E |
<Instruct>: Given the context 'RESULTS Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements.', select the correct biomedical concept corresponding to 'cerebral ald'. Answer using one of the provided options. | <Options>: A: diseases, aortic (aka aortic diseases)
B: aldoa deficiency (aka glycogen storage disease xii)
C: disease, cerebral arterial (aka cerebral arterial diseases)
D: aldob deficiencies (aka fructose intolerance)
E: alexander disease
F: None of the above. | F |
<Instruct>: Given the context 'The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the ALD gene.', select the correct biomedical concept corresponding to 'ald'. Answer using one of the provided options. | <Options>: A: x-ald (aka adrenoleukodystrophy)
B: aortic disease (aka aortic diseases)
C: atherosclerosis
D: aldolase a deficiency (aka glycogen storage disease xii)
E: alds (aka albinism deafness syndrome)
F: None of the above. | A |
<Instruct>: Given the context 'CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD..', select the correct biomedical concept corresponding to 'ald'. Answer using on... | <Options>: A: x ald (aka adrenoleukodystrophy)
B: alexander disease
C: disease, aortic (aka aortic diseases)
D: aldosteronism (aka hyperaldosteronism)
E: aldolase a deficiency (aka glycogen storage disease xii)
F: None of the above. | A |
<Instruct>: Given the context 'CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD..', select the correct biomedical concept corresponding to 'ald'. Answer using on... | <Options>: A: x ald (x linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
B: aldob deficiencies (aka fructose intolerance)
C: aldoa deficiency (aka glycogen storage disease xii)
D: disease, aortic (aka aortic diseases)
E: alexander disease
F: None of the above. | A |
<Instruct>: Given the context 'Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.
', select the correct biomedical concept corresponding to 'absence of the seventh component of complement'. Answer using one of the provided options. | <Options>: A: c7 deficiency (aka complement component 7 deficiency)
B: factor seven deficiency (aka factor vii deficiency)
C: seventh cranial nerve diseases (aka facial nerve diseases)
D: complement component 6 deficiency
E: immunodeficiency 7
F: None of the above. | A |
<Instruct>: Given the context 'Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.
', select the correct biomedical concept corresponding to 'chronic meningococcemia'. Answer using one of the provided options. | <Options>: A: meningoencephalitides (aka meningoencephalitis)
B: infection, meningococcal (aka meningococcal infections)
C: coccidioidomycosis of the meninges (aka coccidioidal meningitis)
D: waterhouse-friderichsen syndrome, meningococcal (aka waterhouse-friderichsen syndrome)
E: cryptococcal meningitides (aka meningi... | B |
<Instruct>: Given the context 'Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.
', select the correct biomedical concept corresponding to 'vasculitis'. Answer using one of the provided options. | <Options>: A: cutaneous vasculitis (aka skin diseases, vascular)
B: pauci-immune vasculitis (aka anti-neutrophil cytoplasmic antibody-associated vasculitis)
C: vasculitis, systemic (aka systemic vasculitis)
D: vasculitides (aka vasculitis)
E: hypersensitivity vasculitides (aka vasculitis, leukocytoclastic, cutaneous)
F... | D |
<Instruct>: Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', select the correct biomedical concept corresponding to 'fever'. Answer using one of the provided options. | <Options>: A: pyrexia (aka fever)
B: fever, break-bone (aka dengue)
C: hyperthermias (aka hyperthermia)
D: unknown origin fever (aka fever of unknown origin)
E: convulsions, fever (aka seizures, febrile)
F: None of the above. | A |
<Instruct>: Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', select the correct biomedical concept corresponding to 'arthritis'. Answer using one of the provided options. | <Options>: A: rheumatism (aka rheumatic diseases)
B: osteoarthritis
C: reactive arthritis (aka arthritis, reactive)
D: arthropathy (aka joint diseases)
E: arthritis
F: None of the above. | E |
<Instruct>: Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', select the correct biomedical concept corresponding to 'cutaneous vasculitis'. Answer using one of the provided options. | <Options>: A: vasculitis, systemic (aka systemic vasculitis)
B: allergic cutaneous vasculitides (aka vasculitis, leukocytoclastic, cutaneous)
C: vasculitis, cutaneous (aka skin diseases, vascular)
D: vasculitis
E: None of the above. | B |
<Instruct>: Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', select the correct biomedical concept corresponding to 'chronic meningococcemia'. Answer using one of the provided options. | <Options>: A: meningoencephalitis
B: coccidioidomycosis of the meninges (aka coccidioidal meningitis)
C: meningococcal disease (aka meningococcal infections)
D: meningitis, meningococcal
E: waterhouse-friderichsen syndrome, meningococcal (aka waterhouse-friderichsen syndrome)
F: None of the above. | C |
<Instruct>: Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', select the correct biomedical concept corresponding to 'chronic meningococcemia'. Answer using one of the provided options. | <Options>: A: meningoencephalitides (aka meningoencephalitis)
B: waterhouse-friderichsen syndrome, meningococcal (aka waterhouse-friderichsen syndrome)
C: cryptococcal meningitides (aka meningitis, cryptococcal)
D: coccidioidomycosis of the meninges (aka coccidioidal meningitis)
E: meningitis, meningococcic (aka mening... | F |
<Instruct>: Given the context 'Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete deficiency of the seventh component of complement.', select the correct biomedical concept corresponding to 'deficiency of the seventh component of complement'. Answer using on... | <Options>: A: factor seven deficiencies (aka factor vii deficiency)
B: seventh cranial nerve diseases (aka facial nerve diseases)
C: complement component 7 deficiency
D: complement component 6 deficiency
E: c5 deficiency (aka complement component 5 deficiency)
F: None of the above. | C |
<Instruct>: Given the context 'Study of the patients family spanning four generations showed heterozygous deficiency of C7 in five members.', select the correct biomedical concept corresponding to 'deficiency of c7'. Answer using one of the provided options. | <Options>: A: c6 deficiency (aka complement component 6 deficiency)
B: c9 deficiency
C: deficiency, vitamin (aka avitaminosis)
D: deficiency, factor 7 (aka factor vii deficiency)
E: c7 deficiency (aka complement component 7 deficiency)
F: None of the above. | E |
<Instruct>: Given the context 'Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..', select the correct biomedical concept corresponding to 'chronic neisserial infection'. Answer using one of the provided options. | <Options>: A: neisseriaceae infection (aka neisseriaceae infections)
B: meningitides, bacterial (aka meningitis, bacterial)
C: central nervous system bacterial infections
D: chronic infections (aka persistent infection)
E: neisseria gonorrhoeae infection (aka gonorrhea)
F: None of the above. | A |
<Instruct>: Given the context 'Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..', select the correct biomedical concept corresponding to 'c7 deficiency'. Answer using one of the provided options. | <Options>: A: c9 deficiency
B: c7d (aka complement component 7 deficiency)
C: deficiencies, factor seven (aka factor vii deficiency)
D: c6 deficiency (aka complement component 6 deficiency)
E: immunodeficiency 7
F: None of the above. | B |
<Instruct>: Given the context 'Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..', select the correct biomedical concept corresponding to 'cutaneous vasculitis'. Answer using one of the provided options. | <Options>: A: cutaneous vasculitides (aka skin diseases, vascular)
B: vasculitis
C: vasculitis, systemic (aka systemic vasculitis)
D: vasculitides, allergic cutaneous (aka vasculitis, leukocytoclastic, cutaneous)
E: None of the above. | D |
<Instruct>: Given the context 'Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phen... | <Options>: A: dihydropyrimidinuria (aka dihydropyrimidinase deficiency)
B: dhpr deficiency (aka phenylketonurias)
C: dihydropyrimidinurias (aka dihydropyrimidine dehydrogenase deficiency)
D: dhfr deficiency (aka megaloblastic anemia due to dihydrofolate reductase deficiency)
E: None of the above. | C |
<Instruct>: Given the context 'Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phen... | <Options>: A: dpd1 (aka camurati-engelmann syndrome)
B: dpgm deficiency (aka erythrocytosis, familial, 8)
C: dph deficiency (aka dihydropyrimidinase deficiency)
D: dihydropyrimidinuria (aka dihydropyrimidine dehydrogenase deficiency)
E: None of the above. | D |
<Instruct>: Given the context 'Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phen... | <Options>: A: x-linked genetic disease (aka genetic diseases, x-linked)
B: disease, rare (aka rare diseases)
C: disease, inborn genetic (aka genetic diseases, inborn)
D: None of the above. | C |
<Instruct>: Given the context 'In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD.', select the correct biomedical concept corresponding to 'dpd deficiency'. Answer using one of the provided options. | <Options>: A: dpd1 (aka camurati-engelmann syndrome)
B: dpyd deficiency (aka dihydropyrimidine dehydrogenase deficiency)
C: deficiencies, gpd (aka glucosephosphate dehydrogenase deficiency)
D: todpd (aka terminal osseous dysplasia)
E: dpysd (aka dihydropyrimidinase deficiency)
F: None of the above. | B |
<Instruct>: Given the context 'In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD.', select the correct biomedical concept corresponding to 'deficiency of dpd'. Answer using one of the provided options. | <Options>: A: dpydd (aka dihydropyrimidine dehydrogenase deficiency)
B: deficiency, pbgd (aka porphyria, acute intermittent)
C: deficiencies, gpd (aka glucosephosphate dehydrogenase deficiency)
D: dpgm deficiency (aka erythrocytosis, familial, 8)
E: todpd (aka terminal osseous dysplasia)
F: None of the above. | A |
<Instruct>: Given the context 'In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD.', select the correct biomedical concept corresponding to 'deficiency of dpd'. Answer using one of the provided options. | <Options>: A: deficiency, pbgd (aka porphyria, acute intermittent)
B: dysplasia, progressive diaphyseal (aka camurati-engelmann syndrome)
C: dpysd (aka dihydropyrimidinase deficiency)
D: todpd (aka terminal osseous dysplasia)
E: deficiencies, gpd (aka glucosephosphate dehydrogenase deficiency)
F: None of the above. | F |
<Instruct>: Given the context 'Analysis of the prevalence of the various mutations among DPD patients has shown that the G-- >', select the correct biomedical concept corresponding to 'dpd'. Answer using one of the provided options. | <Options>: A: dpyd deficiency (aka dihydropyrimidine dehydrogenase deficiency)
B: dpr (aka dermatopathia pigmentosa reticularis)
C: diaphyseal dysplasia, progressive (aka camurati-engelmann syndrome)
D: todpd (aka terminal osseous dysplasia)
E: dystonia deformans progressiva (aka dystonia musculorum deformans)
F: None ... | A |
<Instruct>: Given the context 'A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.', select the correct biomedical concept corresponding to 'convulsive disorders'. Answer using one of the provided options. | <Options>: A: seizure disorder (aka epilepsy)
B: seizures
C: tonic-clonic convulsion disorders (aka epilepsy, tonic-clonic)
D: generalized seizure disorder, convulsive (aka epilepsy, generalized)
E: syncopes, convulsive (aka syncope)
F: None of the above. | D |
<Instruct>: Given the context 'A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.', select the correct biomedical concept corresponding to 'motor retardation'. Answer using one of the provided options. | <Options>: A: motor skills disorder (aka motor skills disorders)
B: coordination impairments (aka ataxia)
C: motor disorders
D: retardation, mental (aka intellectual disability)
E: learning disabilities
F: None of the above. | A |
<Instruct>: Given the context 'A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.', select the correct biomedical concept corresponding to 'mental retardation'. Answer using one of the provided options. | <Options>: A: mental retardation, psychosocial (aka intellectual disability)
B: None of the above. | A |
<Instruct>: Given the context 'An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.', select the correct biomedical concept corresponding to 'clinical abnormalities'. Answer using one of the provided options. | <Options>: A: anatomical pathological conditions (aka pathological conditions, anatomical)
B: syndromes (aka syndrome)
C: pathological conditions, signs and symptoms
D: disease attribute (aka disease attributes)
E: diseases (aka disease)
F: None of the above. | C |
<Instruct>: Given the context 'An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.', select the correct biomedical concept corresponding to 'dpd deficiency'. Answer using one of the provided options. | <Options>: A: todpd (aka terminal osseous dysplasia)
B: deficiencies, gpd (aka glucosephosphate dehydrogenase deficiency)
C: dpgm deficiency (aka erythrocytosis, familial, 8)
D: dpys deficiency (aka dihydropyrimidinase deficiency)
E: dehydrogenase deficiency, dihydropyrimidine (aka dihydropyrimidine dehydrogenase defic... | E |
<Instruct>: Given the context 'Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.
', select the correct biomedical concept corresponding to 'glucose-6-phosphate dehydro... | <Options>: A: glucose-6-phosphatase deficiency (aka glycogen storage disease type i)
B: dehydrogenase deficiency, glucose-6-phosphate (aka glucosephosphate dehydrogenase deficiency)
C: None of the above. | B |
<Instruct>: Given the context 'Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.
', select the correct biomedical concept corresponding to 'g6pd deficiency'. Answer us... | <Options>: A: deficiencies, glucose-6-phosphatase (aka glycogen storage disease type i)
B: anemia, nonspherocytic hemolytic, due to g6pd deficiency
C: g6pdl (aka glucose-6-phosphate dehydrogenase-like)
D: anemia, nonspherocytic hemolytic, due to g6pd deficiency (aka anemia, congenital, nonspherocytic hemolytic, 1)
E: g... | E |
<Instruct>: Given the context 'We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan.', select the correct biomedical concept corresponding to 'glucose-6-phosphate dehydrogenase (g6pd) deficiency'. Answer using one of th... | <Options>: A: glucosephosphate dehydrogenase deficiencies (aka glucosephosphate dehydrogenase deficiency)
B: deficiencies, glucose-6-phosphatase (aka glycogen storage disease type i)
C: None of the above. | A |
<Instruct>: Given the context 'Ninety-four Chinese males with G6PD deficiency were studied.', select the correct biomedical concept corresponding to 'g6pd deficiency'. Answer using one of the provided options. | <Options>: A: g6pdl (aka glucose-6-phosphate dehydrogenase-like)
B: deficiencies, glucose-6-phosphatase (aka glycogen storage disease type i)
C: anemia, nonspherocytic hemolytic, due to g6pd deficiency (aka anemia, congenital, nonspherocytic hemolytic, 1)
D: anemia, nonspherocytic hemolytic, due to g6pd deficiency
E: d... | E |
<Instruct>: Given the context 'Ninety-four Chinese males with G6PD deficiency were studied.', select the correct biomedical concept corresponding to 'g6pd deficiency'. Answer using one of the provided options. | <Options>: A: g6pdl (aka glucose-6-phosphate dehydrogenase-like)
B: deficiency, glucose-6-phosphatase (aka glycogen storage disease type i)
C: anemia, nonspherocytic hemolytic, due to g6pd deficiency
D: anemia, nonspherocytic hemolytic, due to g6pd deficiency (aka anemia, congenital, nonspherocytic hemolytic, 1)
E: Non... | E |
<Instruct>: Given the context 'These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan.', select the correct biomedical concept corresponding to 'g6pd deficiency'. Answer using one of the provided options. | <Options>: A: anemia, nonspherocytic hemolytic, due to g6pd deficiency (aka anemia, congenital, nonspherocytic hemolytic, 1)
B: anemia, nonspherocytic hemolytic, due to g6pd deficiency
C: hemolytic anemia due to g6pd deficiency (aka glucosephosphate dehydrogenase deficiency)
D: g6pdl (aka glucose-6-phosphate dehydrogen... | C |
<Instruct>: Given the context 'Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.
', select the correct biomedical concept corresponding to 'homozygous hypobetalipoproteinemia'. Answer using one of the provided options. | <Options>: A: dysbetalipoproteinemia, familial (aka hyperlipoproteinemia type iii)
B: hyperbetalipoproteinemia (aka hyperlipoproteinemia type ii)
C: hypobetalipoproteinemia, familial, 2
D: hypobetalipoproteinemias
E: hypoprebetalipoproteinemia (aka hypolipoproteinemias)
F: None of the above. | D |
<Instruct>: Given the context 'Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.
', select the correct biomedical concept corresponding to 'abetalipoproproteinemia'. Answer using one of the provided options. | <Options>: A: dysbetalipoproteinemia (aka hyperlipoproteinemia type iii)
B: hypobetalipoproteinemia (aka hypobetalipoproteinemias)
C: abetalipoproteinemia
D: hypoprebetalipoproteinemia (aka hypolipoproteinemias)
E: apolipoprotein b deficiencies (aka hypobetalipoproteinemia, familial, apolipoprotein b)
F: None of the ab... | C |
<Instruct>: Given the context 'apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals.', select the correct biomedical concept corresponding to 'homozygous hypobetalipoproteinemia'. Answer using one of the provided options. | <Options>: A: familial dysbetalipoproteinemia (aka hyperlipoproteinemia type iii)
B: hyperbetalipoproteinemias (aka hyperlipoproteinemia type ii)
C: hypoprebetalipoproteinemia (aka hypolipoproteinemias)
D: familial hypobetalipoproteinemia (aka hypobetalipoproteinemias)
E: diseases, betalipoprotein deficiency (aka abeta... | D |
<Instruct>: Given the context 'apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals.', select the correct biomedical concept corresponding to 'hbl'. Answer using one of the provided options. | <Options>: A: beta-thalassemia
B: hblrg (aka gilbert disease)
C: hblrcn1 (aka crigler-najjar syndrome)
D: hbid (aka dyskeratosis, hereditary benign intraepithelial)
E: hbm, included (aka osteoporosis)
F: None of the above. | F |
<Instruct>: Given the context 'Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities.', select the correct biomedical concept corresponding to 'hbl'. Answer using one of the provided options. | <Options>: A: hbid (aka dyskeratosis, hereditary benign intraepithelial)
B: hblrtfn (aka hyperbilirubinemia, transient familial neonatal)
C: hblvd (aka hyperbiliverdinemia)
D: hbsl (aka hypomyelination with brainstem and spinal cord involvement and leg spasticity)
E: hplh (aka lymphohistiocytosis, hemophagocytic)
F: No... | F |
<Instruct>: Given the context 'ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples.', select the correct biomedical concept corresponding to 'hbl'. Answer using one of the provided options. | <Options>: A: hblrr (aka hyperbilirubinemia, rotor type)
B: hbt (aka telangiectasia, hereditary benign)
C: hemoglobin h disease (aka alpha-thalassemia)
D: hblrdj (aka jaundice, chronic idiopathic)
E: hemoglobinopathies
F: None of the above. | F |
<Instruct>: Given the context 'No apoB was detectable in the plasma of HBL individuals with an ELISA assay.', select the correct biomedical concept corresponding to 'hbl'. Answer using one of the provided options. | <Options>: A: fhl (aka lymphohistiocytosis, hemophagocytic)
B: hblrtfn (aka hyperbilirubinemia, transient familial neonatal)
C: hbt (aka telangiectasia, hereditary benign)
D: hbsl (aka hypomyelination with brainstem and spinal cord involvement and leg spasticity)
E: hemoglobinopathy (aka hemoglobinopathies)
F: None of ... | F |
<Instruct>: Given the context 'These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability.', select the correct biomedical concept corresponding to 'hbl'. Answer using one of the provided options. | <Options>: A: hemoglobinopathy (aka hemoglobinopathies)
B: fhlh (aka lymphohistiocytosis, hemophagocytic)
C: hbid (aka dyskeratosis, hereditary benign intraepithelial)
D: hbm, included (aka osteoporosis)
E: hbsl (aka hypomyelination with brainstem and spinal cord involvement and leg spasticity)
F: None of the above. | F |
<Instruct>: Given the context 'These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..', select the correct biomedical concept corresponding to 'abetalipoproteinemia'. Answe... | <Options>: A: deficiency diseases, betalipoprotein (aka abetalipoproteinemia)
B: dysbetalipoproteinemia (aka hyperlipoproteinemia type iii)
C: hypobetalipoproteinemias
D: floating-betalipoproteinemia
E: hypobetalipoproteinemia, familial, apolipoprotein b
F: None of the above. | A |
<Instruct>: Given the context 'These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..', select the correct biomedical concept corresponding to 'abetalipoproteinemia'. Answe... | <Options>: A: familial dysbetalipoproteinemia (aka hyperlipoproteinemia type iii)
B: hyperalphalipoproteinemia (aka cholesteryl ester transfer protein deficiency)
C: floating-betalipoproteinemia
D: hyperbetalipoproteinemias (aka hyperlipoproteinemia type ii)
E: hypobetalipoproteinemia, familial, apolipoprotein b
F: Non... | F |
<Instruct>: Given the context 'A population-based study of the clinical expression of the hemochromatosis gene.
', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: african hemochromatosis
B: juvenile hemochromatosis (aka hemochromatosis, type 2)
C: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
D: hemochromatosis, familial (aka hemochromatosis)
E: None of the above. | D |
<Instruct>: Given the context 'BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.', select the correct biomedical concept corresp... | <Options>: A: juvenile hemochromatosis (aka hemochromatosis, type 2)
B: hfe (aka hemochromatosis)
C: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
D: african hemochromatosis
E: None of the above. | B |
<Instruct>: Given the context 'BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.', select the correct biomedical concept corresp... | <Options>: A: african hemochromatosis
B: familial hemochromatoses (aka hemochromatosis)
C: juvenile hemochromatosis (aka hemochromatosis, type 2)
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: None of the above. | B |
<Instruct>: Given the context 'BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.', select the correct biomedical concept corresp... | <Options>: A: iron overload in africa (aka bantu siderosis)
B: sideroses (aka siderosis)
C: storage disorder, iron (aka hemochromatosis)
D: overload, iron (aka iron overload)
E: metabolism disorder, iron (aka iron metabolism disorders)
F: None of the above. | D |
<Instruct>: Given the context 'Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not.', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: haemochromatosis (aka hemochromatosis)
B: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
C: african hemochromatosis
D: hemochromatosis, type 2, included (aka hemochromatosis, type 2)
E: None of the above. | A |
<Instruct>: Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', select the correct biomedical concept corresponding to 'hepatic fibrosis'. Answer using one of... | <Options>: A: hepatic failure (aka liver failure)
B: liver cirrhosis
C: congenital fibrose liver (aka hepatic fibrosis, congenital)
D: failure, chronic liver (aka end stage liver disease)
E: cirrhosis, familial
F: None of the above. | B |
<Instruct>: Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', select the correct biomedical concept corresponding to 'excessive alcohol consumption'. Answer... | <Options>: A: alcohol-related disorder (aka alcohol-related disorders)
B: alcohol abuse (aka alcoholism)
C: alcoholic intoxication
D: binge alcohol consumption (aka binge drinking)
E: None of the above. | C |
<Instruct>: Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', select the correct biomedical concept corresponding to 'cirrhosis'. Answer using one of the pr... | <Options>: A: cirrhosis, cryptogenic
B: alcoholic cirrhosis (aka liver cirrhosis, alcoholic)
C: indian childhood cirrhosis (aka cirrhosis, familial, with pulmonary hypertension)
D: liver cirrhosis
E: secondary biliary cirrhosis (aka liver cirrhosis, biliary)
F: None of the above. | D |
<Instruct>: Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', select the correct biomedical concept corresponding to 'microvesicular steatosis'. Answer usin... | <Options>: A: lipid metabolism disorder (aka lipid metabolism disorders)
B: liver steatoses (aka fatty liver)
C: lipid storage myopathy (aka myopathy with abnormal lipid metabolism)
D: nafld (aka non-alcoholic fatty liver disease)
E: steatosis of liver (aka visceral steatosis, congenital)
F: None of the above. | B |
<Instruct>: Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', select the correct biomedical concept corresponding to 'hereditary hemochromatosis'. Answer using one o... | <Options>: A: juvenile hemochromatosis (aka hemochromatosis, type 2)
B: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
C: genetic hemochromatoses (aka hemochromatosis)
D: african hemochromatosis
E: None of the above. | C |
<Instruct>: Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', select the correct biomedical concept corresponding to 'hereditary hemochromatosis'. Answer using one o... | <Options>: A: african hemochromatosis
B: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
C: hemochromatosis, juvenile (aka hemochromatosis, type 2)
D: None of the above. | D |
<Instruct>: Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', select the correct biomedical concept corresponding to 'hepatomegaly'. Answer using one of the provided... | <Options>: A: hepatobiliary disease (aka digestive system diseases)
B: hepatoblastoma
C: hepatomegaly
D: hepatomas (aka carcinoma, hepatocellular)
E: diseases, liver (aka liver diseases)
F: None of the above. | C |
<Instruct>: Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', select the correct biomedical concept corresponding to 'skin pigmentation'. Answer using one of the pro... | <Options>: A: diseases, genetic skin (aka skin diseases, genetic)
B: melanosis
C: manifestations, skin (aka skin manifestations)
D: dermatosis (aka skin diseases)
E: disorder, pigmentation (aka pigmentation disorders)
F: None of the above. | E |
<Instruct>: Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', select the correct biomedical concept corresponding to 'arthritis'. Answer using one of the provided op... | <Options>: A: arths (aka arboleda-tham syndrome)
B: arthritis, rheumatic (aka rheumatic fever)
C: arthritides (aka arthritis)
D: arthritis, degenerative (aka osteoarthritis)
E: childhood arthritis (aka arthritis, juvenile)
F: None of the above. | C |
<Instruct>: Given the context 'However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period.', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided op... | <Options>: A: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
B: haemochromatosis (aka hemochromatosis)
C: hemochromatosis, type 2, included (aka hemochromatosis, type 2)
D: african hemochromatosis
E: None of the above. | B |
<Instruct>: Given the context 'Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene.'... | <Options>: A: adult pelizaeus-merzbacher disease (aka pelizaeus-merzbacher disease)
B: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
C: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
D: None of the ... | A |
<Instruct>: Given the context 'Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene.'... | <Options>: A: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
B: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
C: brain sclerosis, pelizaeus-merzbacher (aka pelizaeus-merzbacher disease)
D: None of t... | C |
<Instruct>: Given the context 'Only 25% of patients studied with Pelizaeus-Merzbacher disease have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown.', select the correct biomedical concept corresponding to 'pelizaeus-merzbacher disease'. Answer using one of the pro... | <Options>: A: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
B: cockayne-pelizaeus-merzbacher disease (aka pelizaeus-merzbacher disease)
C: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
D: None of t... | B |
<Instruct>: Given the context 'We studied cultured skin fibroblasts from 2 brothers with Pelizaeus-Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene.', select the correct biomedical concept corresponding to 'pelizaeus-merzbacher disease'. Answer using one of the provided options. | <Options>: A: classic pelizaeus merzbacher disease (aka pelizaeus-merzbacher disease)
B: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
C: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
D: None of th... | A |
<Instruct>: Given the context 'Our findings suggest that in some patients, Pelizaeus-Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier..', select th... | <Options>: A: classic pelizaeus merzbacher disease (aka pelizaeus-merzbacher disease)
B: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
C: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
D: None of th... | A |
<Instruct>: Given the context 'Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
', select the correct biomedical concept corresponding to 'diastrophic dysplasia'. Answer using one of the provided options. | <Options>: A: diastrophic dysplasia, broad bone-platyspondylic variant
B: diastemas (aka diastema)
C: diastasis, bone
D: dysplasias, bone (aka bone diseases, developmental)
E: dd diastrophic dysplasia, broad bone-platyspondylic variant, included (aka diastrophic dysplasia)
F: None of the above. | E |
<Instruct>: Given the context 'Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
', select the correct biomedical concept corresponding to 'diastrophic dysplasia'. Answer using one of the provided options. | <Options>: A: diastemas (aka diastema)
B: chondrodysplasia, hereditary deforming (aka exostoses, multiple hereditary)
C: bone disease, developmental (aka bone diseases, developmental)
D: diastrophic dysplasia, broad bone-platyspondylic variant
E: diastasis, bone
F: None of the above. | F |
<Instruct>: Given the context 'Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems.', select the correct biomedical concept corresponding to 'chondrodysplasias'. Answer using one of the provided options. | <Options>: A: osteochondroses (aka osteochondrosis)
B: chondrodysplasia, hereditary deforming (aka exostoses, multiple hereditary)
C: cartilage diseases
D: congenital arthromyodysplasia (aka arthrogryposis)
E: dyschondroplasia (aka osteochondrodysplasias)
F: None of the above. | E |
<Instruct>: Given the context 'We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.', select the correct biomedical concept corr... | <Options>: A: bone dysplasia (aka bone diseases, developmental)
B: hereditary deforming chondrodysplasia (aka exostoses, multiple hereditary)
C: diastrophic dysplasia, broad bone-platyspondylic variant
D: diastasis, bone
E: dtd (aka diastrophic dysplasia)
F: None of the above. | E |
<Instruct>: Given the context 'We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.', select the correct biomedical concept corr... | <Options>: A: skeletal dysplasia with amelogenesis imperfecta and platyspondyly (aka verloes bourguignon syndrome)
B: platybasias (aka platybasia)
C: platyspondylic lethal skeletal dysplasia, san diego type (aka thanatophoric dysplasia, type i)
D: dd diastrophic dysplasia, broad bone-platyspondylic variant, included (a... | F |
<Instruct>: Given the context 'We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.', select the correct biomedical concept corr... | <Options>: A: metatropic dysplasia (aka metatropic dwarfism)
B: bone dysplasias (aka bone diseases, developmental)
C: metatropic dysplasia type ii (aka metatropic dwarfism, type ii)
D: metaphyseal dysplasia (aka pyle disease)
E: moth-eaten skeletal dysplasia (aka greenberg dysplasia)
F: None of the above. | A |
<Instruct>: Given the context 'Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
', select the correct biomedical concept corresponding to 'pelizaeus-merzbacher disease'. Answer using one of the provid... | <Options>: A: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
B: adult pelizaeus merzbacher disease (aka pelizaeus-merzbacher disease)
C: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
D: None of the ... | B |
<Instruct>: Given the context 'We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD).', select the correct biomedical concept corresponding to 'x-linked pelizaeus-merzbacher disease'. Answer using one of the provided options. | <Options>: A: pelizaeus-merzbacher-like disease, 1 (aka leukodystrophy, hypomyelinating, 2)
B: pelizaeus-merzbacher sclerosis, brain (aka pelizaeus-merzbacher disease)
C: pelizaeus-merzbacher disease, autosomal dominant or late-onset type (aka leukodystrophy, demyelinating, adult-onset, autosomal dominant)
D: None of t... | B |
<Instruct>: Given the context 'We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD).', select the correct biomedical concept corresponding to 'pmd'. Answer using one of the provided options. | <Options>: A: mpd1 (aka distal myopathies)
B: diseases, mediastinal (aka mediastinal diseases)
C: syndrome, premenstrual (aka premenstrual syndrome)
D: pmd (aka pelizaeus-merzbacher disease)
E: chronobiology disorders
F: None of the above. | D |
<Instruct>: Given the context 'In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of PMD based on her genotype with the PLP intragenic polymorphism..', select the correct biomedical concept corresponding to 'pmd'. Answer using one of th... | <Options>: A: syndromes, premenstrual (aka premenstrual syndrome)
B: pmds (aka persistent mullerian duct syndrome)
C: dysphoric disorder, premenstrual (aka premenstrual dysphoric disorder)
D: pmd (aka pelizaeus-merzbacher disease)
E: mg dysfunctions (aka meibomian gland dysfunction)
F: None of the above. | D |
<Instruct>: Given the context 'Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
', select the correct biomedical concept corresponding to 'gardner syndrome'. Answer using one of the provided options. | <Options>: A: gardner morrisson abbot syndrome
B: gardner's syndromes (aka gardner syndrome)
C: xerocytosis gardos (aka xerocytosis, hereditary)
D: werner syndrome
E: samson gardner syndrome
F: None of the above. | B |
<Instruct>: Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', select the correct biomedical concept corresponding to 'gardner syndrome'. Answer using one of the provided options. | <Options>: A: gardner morrisson abbot syndrome
B: werner syndrome
C: samson gardner syndrome
D: gardner-diamond syndrome
E: gardner's syndromes (aka gardner syndrome)
F: None of the above. | E |
<Instruct>: Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', select the correct biomedical concept corresponding to 'gardner syndrome'. Answer using one of the provided options. | <Options>: A: werners syndrome (aka werner syndrome)
B: samson gardner syndrome
C: gardner-diamond syndrome
D: genome instability (aka genomic instability)
E: gardner morrisson abbot syndrome
F: None of the above. | F |
<Instruct>: Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', select the correct biomedical concept corresponding to 'gs'. Answer using one of the provided options. | <Options>: A: glycogen storage disease
B: generalized glycogenosis (aka glycogen storage disease type ii)
C: gs, included (aka adenomatous polyposis coli)
D: gsm1 (aka geniospasm)
E: gssd (aka glutathione synthetase deficiency)
F: None of the above. | F |
<Instruct>: Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', select the correct biomedical concept corresponding to 'mental retardation'. Answer using one of the provided options. | <Options>: A: deficiency, mental (aka intellectual disability)
B: None of the above. | A |
<Instruct>: Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', select the correct biomedical concept corresponding to 'craniofacial abnormalities'. Answer using one of the provided options. | <Options>: A: abnormality, maxillofacial (aka maxillofacial abnormalities)
B: fetal anomalies (aka congenital abnormalities)
C: abnormality, craniofacial (aka craniofacial abnormalities)
D: dysostoses, craniofacial (aka craniofacial dysostosis)
E: asymmetry, facial (aka facial asymmetry)
F: None of the above. | C |
<Instruct>: Given the context 'The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies', select the correct biom... | <Options>: A: coli, polyposis (aka adenomatous polyposis coli)
B: None of the above. | A |
<Instruct>: Given the context 'The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies', select the correct biom... | <Options>: A: gs2 (aka griscelli syndrome type 2)
B: glycogen storage diseases (aka glycogen storage disease)
C: gsd (aka gerstmann-straussler-scheinker disease)
D: gssde (aka anemia, congenital, nonspherocytic hemolytic, 6)
E: gsd x (aka dimauro disease)
F: None of the above. | F |
<Instruct>: Given the context 'The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies', select the correct biom... | <Options>: A: familial polyposis coli (aka adenomatous polyposis coli)
B: None of the above. | A |
<Instruct>: Given the context 'The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies', select the correct biom... | <Options>: A: fpd1 (aka paroxysmal nonkinesigenic dyskinesia)
B: fph2, formerly (aka hyperpigmentation with or without hypopigmentation, familial progressive)
C: fpc (aka adenomatous polyposis coli)
D: cfc syndrome (aka cardiofaciocutaneous syndrome)
E: fibrous dysplasia with pigmentary skin changes and precocious pube... | C |
<Instruct>: Given the context 'Type I human complement C2 deficiency.', select the correct biomedical concept corresponding to 'type i human complement c2 deficiency'. Answer using one of the provided options. | <Options>: A: complement factor i deficiency
B: complement component c1s deficiency
C: complement component 3 deficiency, autosomal recessive
D: c2 deficiency (aka complement component 2 deficiency)
E: mhc class ii deficiency 1 (aka bare lymphocyte syndrome 2)
F: None of the above. | D |
<Instruct>: Given the context 'Two variants of a genetic deficiency of complement protein C2 (C2D) have been previously identified.', select the correct biomedical concept corresponding to 'deficiency of complement protein c2'. Answer using one of the provided options. | <Options>: A: c8 deficiency, type ii (aka complement component 8 deficiency, type ii)
B: t2 deficiency (aka beta ketothiolase deficiency)
C: c3g2 (aka complement factor i deficiency)
D: c2d (aka complement component 2 deficiency)
E: factor ii deficiencies (aka hypoprothrombinemias)
F: None of the above. | D |
<Instruct>: Given the context 'Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplo... | <Options>: A: c2 deficiency (aka complement component 2 deficiency)
B: tc ii deficiency (aka transcobalamin ii deficiency)
C: c3 deficiency, autosomal recessive (aka complement component 3 deficiency, autosomal recessive)
D: c1s deficiency (aka complement component c1s deficiency)
E: congenital disorder of glycosylatio... | A |
<Instruct>: Given the context 'Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplo... | <Options>: A: c3 deficiency, autosomal recessive (aka complement component 3 deficiency, autosomal recessive)
B: apoc2 deficiency (aka hyperlipoproteinemia type i)
C: congenital disorder of glycosylation, type iis (aka immunodeficiency 47)
D: congenital disorder of glycosylation, type ii (aka congenital disorder of gly... | F |
<Instruct>: Given the context 'Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplo... | <Options>: A: syndrome, antibody deficiency (aka immunologic deficiency syndromes)
B: c2d (aka complement component 2 deficiency)
C: rcd2 (aka retinal cone dystrophy 2)
D: deficiency, mental (aka intellectual disability)
E: schindler disease, type 2 (aka schindler disease, type i)
F: None of the above. | B |
<Instruct>: Given the context 'To determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype.', select the correct biomedical concept corresponding to 'type i c2 deficiency'. Answer using... | <Options>: A: apoc2 deficiency (aka hyperlipoproteinemia type i)
B: complement component 2 deficiency
C: c3 deficiency, autosomal recessive (aka complement component 3 deficiency, autosomal recessive)
D: tc ii deficiency (aka transcobalamin ii deficiency)
E: c1s deficiency (aka complement component c1s deficiency)
F: N... | B |
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