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<Instruct>: Given the context 'A common human skin tumour is caused by activating mutations in beta-catenin.
', select the correct biomedical concept corresponding to 'skin tumour'. Answer using one of the provided options. | <Options>: A: epithelial neoplasms (aka neoplasms, glandular and epithelial)
B: tumor (aka neoplasms)
C: skin diseases
D: neoplasms by site
E: neoplasms, skin (aka skin neoplasms)
F: None of the above. | E |
<Instruct>: Given the context 'One of the target genes for beta-catenin/TCF encodes c-MYC, explaining why constitutive activation of the WNT pathway can lead to cancer, particularly in the colon.', select the correct biomedical concept corresponding to 'cancer'. Answer using one of the provided options. | <Options>: A: syndrome, hereditary cancer (aka neoplastic syndromes, hereditary)
B: cancer of the skin (aka skin neoplasms)
C: neoplasm (aka neoplasms)
D: transformation, neoplastic cell (aka cell transformation, neoplastic)
E: oncogenesis (aka carcinogenesis)
F: None of the above. | C |
<Instruct>: Given the context 'Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.', select the correct biomedical concept corresponding to 'colon cancers'. Answer using one of the provided options. | <Options>: A: colonic cancers (aka colonic neoplasms)
B: cancers, colorectal (aka colorectal neoplasms)
C: None of the above. | A |
<Instruct>: Given the context 'Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.', select the correct biomedical concept corresponding to 'adenomatous polyposis coli'. Answer using one of the provided options. | <Options>: A: polyposis, familial adenomatous (aka adenomatous polyposis coli)
B: None of the above. | A |
<Instruct>: Given the context 'Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.', select the correct biomedical concept corresponding to 'apc'. Answer using one of the provided options. | <Options>: A: polyp, adenomatous (aka adenomatous polyps)
B: adenomatous polyposis of the colon (aka adenomatous polyposis coli)
C: None of the above. | B |
<Instruct>: Given the context 'Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas.', select the correct biomedical concept corresponding to 'skin tumours'. Answer using one of the provided options. | <Options>: A: neoplasia (aka neoplasms)
B: skin neoplasms
C: epithelial neoplasms (aka neoplasms, glandular and epithelial)
D: dermatoses (aka skin diseases)
E: None of the above. | B |
<Instruct>: Given the context 'Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas.', select the correct biomedical concept corresponding to 'pilomatricomas'. Answer using one of the provided options. | <Options>: A: papillomas, squamous cell (aka papilloma)
B: pilomatrixoma, benign (aka pilomatrixoma)
C: epitheliomas (aka carcinoma)
D: hamartomas (aka hamartoma)
E: keratomas (aka keratosis)
F: None of the above. | B |
<Instruct>: Given the context 'Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations.', select the correct biomedical concept corresponding to 'pilomatricomas'. Answer using one of the provided options. | <Options>: A: keratoma (aka keratosis)
B: epithelioma (aka carcinoma)
C: pilomatrixoma
D: hamartomas (aka hamartoma)
E: acanthomas, pilar sheath (aka acanthoma)
F: None of the above. | C |
<Instruct>: Given the context 'Here, we explore the cell origin and aetiology of this common human skin tumour.', select the correct biomedical concept corresponding to 'skin tumour'. Answer using one of the provided options. | <Options>: A: skin diseases
B: neoplasias (aka neoplasms)
C: epithelial neoplasms (aka neoplasms, glandular and epithelial)
D: cancer of skin (aka skin neoplasms)
E: neoplasms by site
F: None of the above. | D |
<Instruct>: Given the context 'We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.', select the correct biomedical concept corresponding to 'tumour'. Answer using one of the provided options. | <Options>: A: tumorigenesis (aka carcinogenesis)
B: neoplasias (aka neoplasms)
C: neoplastic processes
D: neoplasm sites (aka neoplasms by site)
E: None of the above. | B |
<Instruct>: Given the context 'We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.', select the correct biomedical concept corresponding to 'tumour'. Answer using one of the provided options. | <Options>: A: neoplastic processes
B: tumorigenesis (aka carcinogenesis)
C: neoplasms by site
D: None of the above. | D |
<Instruct>: Given the context 'We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.', select the correct biomedical concept corresponding to 'pilomatricomas'. Answer using one of the provided options. | <Options>: A: hamartomas (aka hamartoma)
B: poromas (aka poroma)
C: pilomatricoma, benign (aka pilomatrixoma)
D: keratoacanthomas (aka keratoacanthoma)
E: epitheliomas (aka carcinoma)
F: None of the above. | C |
<Instruct>: Given the context 'At least 75% of these tumours possess mutations affecting the amino-terminal segment, normally involved in phosphorylation-dependent, ubiquitin-mediated degradation of the protein.', select the correct biomedical concept corresponding to 'tumours'. Answer using one of the provided options. | <Options>: A: tumorigenesis (aka carcinogenesis)
B: sites, neoplasm (aka neoplasms by site)
C: tumor (aka neoplasms)
D: neoplastic processes
E: None of the above. | C |
<Instruct>: Given the context 'This percentage of CTNNB1 mutations is greater than in all other human tumours examined thus far, and directly implicates beta-catenin/LEF misregulation as the major cause of hair matrix cell tumorigenesis in humans..', select the correct biomedical concept corresponding to 'tumours'. Answer using one of the provided options. | <Options>: A: neoplastic processes
B: tumorigenesis (aka carcinogenesis)
C: neoplasm (aka neoplasms)
D: neoplasms by site
E: None of the above. | C |
<Instruct>: Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: african hemochromatosis
B: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
C: juvenile hemochromatosis (aka hemochromatosis, type 2)
D: hemochromatoses, genetic (aka hemochromatosis)
E: None of the above. | E |
<Instruct>: Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
B: african hemochromatosis
C: primary hemochromatosis (aka hemochromatosis)
D: juvenile hemochromatosis (aka hemochromatosis, type 2)
E: None of the above. | C |
<Instruct>: Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', select the correct biomedical concept corresponding to 'hereditary hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, familial (aka hemochromatosis)
B: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
C: african hemochromatosis
D: juvenile hemochromatosis (aka hemochromatosis, type 2)
E: None of the above. | A |
<Instruct>: Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: hh12 (aka eunuchoidism, familial hypogonadotropic)
B: hh (aka hemochromatosis)
C: hhh (aka hhh syndrome)
D: chh (aka cartilage-hair hypoplasia)
E: hch (aka hypochondroplasia)
F: None of the above. | B |
<Instruct>: Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', select the correct biomedical concept corresponding to 'autosomal recessive genetic disorder'. Answer using one of the provided options. | <Options>: A: x-linked genetic diseases (aka genetic diseases, x-linked)
B: predispositions, genetic (aka genetic predisposition to disease)
C: genetic diseases, inborn
D: None of the above. | C |
<Instruct>: Given the context 'The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
B: fhh (aka hypocalciuric hypercalcemia, familial, type 1)
C: hh (aka hemochromatosis)
D: jp/hht syndrome (aka juvenile polyposis with hereditary hemorrhagic telangiectasia)
E: hhs, included (aka dyskeratosis congenita)
F: None of the above. | C |
<Instruct>: Given the context 'Two missense mutations have been described C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
B: hh (aka hemochromatosis)
C: hhc1 (aka hypocalciuric hypercalcemia, familial, type 1)
D: hh12 (aka eunuchoidism, familial hypogonadotropic)
E: hhs, included (aka dyskeratosis congenita)
F: None of the above. | B |
<Instruct>: Given the context 'Two missense mutations have been described C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: hhhh syndrome
B: hh1 (aka kallmann syndrome)
C: hht (aka telangiectasia, hereditary hemorrhagic)
D: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
E: hhc (aka hypocalciuric hypercalcemia, familial, type 1)
F: None of the above. | F |
<Instruct>: Given the context 'Two missense mutations have been described C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: hhhh syndrome
B: hh (aka hemochromatosis)
C: hhc (aka hypocalciuric hypercalcemia, familial, type 1)
D: jp/hht syndrome (aka juvenile polyposis with hereditary hemorrhagic telangiectasia)
E: hht (aka telangiectasia, hereditary hemorrhagic)
F: None of the above. | B |
<Instruct>: Given the context 'The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation.', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: juvenile hemochromatosis (aka hemochromatosis, type 2)
B: hemochromatosis, familial (aka hemochromatosis)
C: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
D: african hemochromatosis
E: None of the above. | B |
<Instruct>: Given the context 'The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: hh12 (aka eunuchoidism, familial hypogonadotropic)
B: hht (aka telangiectasia, hereditary hemorrhagic)
C: hh (aka hemochromatosis)
D: jp/hht syndrome (aka juvenile polyposis with hereditary hemorrhagic telangiectasia)
E: hh3 (aka kallmann syndrome)
F: None of the above. | C |
<Instruct>: Given the context 'This substitution accounted for 7. 8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
B: hh (aka hemochromatosis)
C: hh12 (aka eunuchoidism, familial hypogonadotropic)
D: hht (aka telangiectasia, hereditary hemorrhagic)
E: hh7 (aka idiopathic hypogonadotropic hypogonadism)
F: None of the above. | B |
<Instruct>: Given the context 'This substitution accounted for 7. 8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.', select the correct biomedical concept corresponding to 'hh'. Answer using one of the provided options. | <Options>: A: hh2 (aka kallmann syndrome)
B: hh12 (aka eunuchoidism, familial hypogonadotropic)
C: hh (aka hemochromatosis)
D: hhhs (aka hhh syndrome)
E: chh (aka cartilage-hair hypoplasia)
F: None of the above. | C |
<Instruct>: Given the context 'This substitution accounted for 7. 8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.', select the correct biomedical concept corresponding to 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, type 2, included (aka hemochromatosis, type 2)
B: hemochromatosis
C: african hemochromatosis
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: None of the above. | B |
<Instruct>: Given the context 'Germline BRCA1 alterations in a population-based series of ovarian cancer cases.
', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: epithelial cancer, ovarian (aka carcinoma, ovarian epithelial)
B: ovary neoplasm (aka ovarian neoplasms)
C: None of the above. | B |
<Instruct>: Given the context 'The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 (BRCA1) germline alterations in the ovarian cancer population.', select the correct biomedical concept corresponding to 'breast cancer'. Answer using one of the provided options. | <Options>: A: breast malignant tumors (aka breast neoplasms)
B: None of the above. | A |
<Instruct>: Given the context 'The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 (BRCA1) germline alterations in the ovarian cancer population.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: neoplasm, ovary (aka ovarian neoplasms)
B: ovarian epithelial cancers (aka carcinoma, ovarian epithelial)
C: None of the above. | A |
<Instruct>: Given the context 'To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: ovarian epithelial cancer (aka carcinoma, ovarian epithelial)
B: cancer, ovary (aka ovarian neoplasms)
C: None of the above. | B |
<Instruct>: Given the context 'To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: epithelial cancer, ovarian (aka carcinoma, ovarian epithelial)
B: None of the above. | B |
<Instruct>: Given the context 'This is the first population-based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: ovarian epithelial cancers (aka carcinoma, ovarian epithelial)
B: cancer of ovary (aka ovarian neoplasms)
C: None of the above. | B |
<Instruct>: Given the context 'One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: ovarian epithelial cancers (aka carcinoma, ovarian epithelial)
B: neoplasms, ovary (aka ovarian neoplasms)
C: None of the above. | B |
<Instruct>: Given the context 'Several novel as well as previously reported uncharacterized variants were also identified, some of which were associated with a family history of cancer.', select the correct biomedical concept corresponding to 'cancer'. Answer using one of the provided options. | <Options>: A: syndrome, hereditary cancer (aka neoplastic syndromes, hereditary)
B: neoplasm, malignant (aka neoplasms)
C: transformation, neoplastic cell (aka cell transformation, neoplastic)
D: cancer of the skin (aka skin neoplasms)
E: carcinoma
F: None of the above. | B |
<Instruct>: Given the context 'The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele-specific amplification.', select the correct biomedical concept corresponding to 'cancer'. Answer using one of the provided options. | <Options>: A: syndrome, hereditary cancer (aka neoplastic syndromes, hereditary)
B: transformation, neoplastic cell (aka cell transformation, neoplastic)
C: carcinoma
D: neoplasm, malignant (aka neoplasms)
E: cancer of the skin (aka skin neoplasms)
F: None of the above. | D |
<Instruct>: Given the context 'The rare form of the Q356R polymorphism was significantly (P = 0. 03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: ovarian neoplasms
B: ovarian epithelial cancers (aka carcinoma, ovarian epithelial)
C: None of the above. | A |
<Instruct>: Given the context 'The rare form of the Q356R polymorphism was significantly (P = 0. 03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: ovarian epithelial cancers (aka carcinoma, ovarian epithelial)
B: neoplasms, ovarian (aka ovarian neoplasms)
C: None of the above. | B |
<Instruct>: Given the context 'In summary, our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk, and highlight the necessity to screen for missense alterations as well as truncating mutations in this population.', select the correct biomedical concept corresponding to 'ovarian cancer'. Answer using one of the provided options. | <Options>: A: neoplasm, ovary (aka ovarian neoplasms)
B: epithelial cancer, ovarian (aka carcinoma, ovarian epithelial)
C: None of the above. | A |
<Instruct>: Given the context 'Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor.
', select the correct biomedical concept corresponding to 'adenomatous polyposis coli tumour'. Answer using one of the provided options. | <Options>: A: coli, adenomatous polyposis (aka adenomatous polyposis coli)
B: None of the above. | A |
<Instruct>: Given the context 'The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin.', select the correct biomedical concept corresponding to 'adenomatous polyposis coli (apc) tumour'. Answer using one of the provided options. | <Options>: A: familial adenomatous polyposis (aka adenomatous polyposis coli)
B: polyps, adenomatous (aka adenomatous polyps)
C: None of the above. | A |
<Instruct>: Given the context 'In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]).', select the correct biomedical concept corresponding to 'colon carcinoma'. Answer using one of the provided options. | <Options>: A: colorectal carcinoma (aka colorectal neoplasms)
B: colon cancer (aka colonic neoplasms)
C: None of the above. | B |
<Instruct>: Given the context 'In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]).', select the correct biomedical concept corresponding to 'colon carcinoma'. Answer using one of the provided options. | <Options>: A: carcinoma, colorectal (aka colorectal neoplasms)
B: None of the above. | B |
<Instruct>: Given the context 'Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC -/- colon carcinoma cells.', select the correct biomedical concept corresponding to 'colon carcinoma'. Answer using one of the provided options. | <Options>: A: colon cancer (aka colorectal neoplasms)
B: colon adenocarcinomas (aka colonic neoplasms)
C: None of the above. | B |
<Instruct>: Given the context '3. APC and APC2 may therefore have comparable functions in development and cancer.', select the correct biomedical concept corresponding to 'cancer'. Answer using one of the provided options. | <Options>: A: malignancies (aka neoplasms)
B: cancer of the skin (aka skin neoplasms)
C: tumorigenesis (aka carcinogenesis)
D: transformation, neoplastic cell (aka cell transformation, neoplastic)
E: carcinomas (aka carcinoma)
F: None of the above. | A |
<Instruct>: Given the context 'Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.
', select the correct biomedical concept corresponding to 'familial deficiency of the seventh component of complement'. Answer using one of the provided options. | <Options>: A: immunodeficiency 7
B: deficiency, factor 7 (aka factor vii deficiency)
C: c5 deficiency (aka complement component 5 deficiency)
D: c7d (aka complement component 7 deficiency)
E: complement component 6 deficiency
F: None of the above. | D |
<Instruct>: Given the context 'Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.
', select the correct biomedical concept corresponding to 'bacteremic infections due to neisseria'. Answer using one of the provided options. | <Options>: A: meningitides, bacterial (aka meningitis, bacterial)
B: infections, bacterial, central nervous system (aka central nervous system bacterial infections)
C: neisseriaceae infections
D: infection, bacterial (aka bacterial infections)
E: bacteremias (aka bacteremia)
F: None of the above. | C |
<Instruct>: Given the context 'The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.', select the correct biomedical concept corresponding to 'disseminated gonococcal infection'. Answer using one of the provided options. | <Options>: A: meningococcal infections
B: neisseria gonorrhoeae infection (aka gonorrhea)
C: gonococcal perihepatitis (aka fitz-hugh-curtis syndrome)
D: infection, neisseriaceae (aka neisseriaceae infections)
E: diseases, sexually transmitted (aka sexually transmitted diseases)
F: None of the above. | F |
<Instruct>: Given the context 'The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.', select the correct biomedical concept corresponding to 'meningococcal meningitis'. Answer using one of the provided options. | <Options>: A: septicemia, meningococcal (aka meningococcal infections)
B: meningitis, neisseria (aka meningitis, meningococcal)
C: None of the above. | B |
<Instruct>: Given the context 'The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.', select the correct biomedical concept corresponding to 'arthritis'. Answer using one of the provided options. | <Options>: A: arthritis, rheumatic (aka rheumatic fever)
B: arthritis
C: rheumatism (aka rheumatic diseases)
D: joint disease (aka joint diseases)
E: childhood arthritis (aka arthritis, juvenile)
F: None of the above. | B |
<Instruct>: Given the context 'The absence of functional C7 activity could not be accounted for on the basis of an inhibitor.', select the correct biomedical concept corresponding to 'absence of functional c7'. Answer using one of the provided options. | <Options>: A: tooth agenesis, selective, 7
B: cord7 (aka cone-rod dystrophy 7)
C: deletion 7q2 (aka chromosome 7, monosomy 7q2)
D: factor 7 deficiencies (aka factor vii deficiency)
E: c7 deficiency (aka complement component 7 deficiency)
F: None of the above. | E |
<Instruct>: Given the context 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', select the correct biomedical concept corresponding to 'complete absence of c7'. Answer using one of the provided options. | <Options>: A: tooth agenesis, selective, 7
B: uniparental disomy of 7 (aka chromosome 7, trisomy mosaic)
C: c7d (aka complement component 7 deficiency)
D: aplasia cutis congenita, nonsyndromic (aka ectodermal dysplasia)
E: cord7 (aka cone-rod dystrophy 7)
F: None of the above. | C |
<Instruct>: Given the context 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', select the correct biomedical concept corresponding to 'meningococcal meningitis'. Answer using one of the provided options. | <Options>: A: meningococcal disease (aka meningococcal infections)
B: meningococcal meningitis, serogroup b (aka meningitis, meningococcal)
C: None of the above. | B |
<Instruct>: Given the context 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', select the correct biomedical concept corresponding to 'meningococcal meningitis'. Answer using one of the provided options. | <Options>: A: infection, meningococcal (aka meningococcal infections)
B: None of the above. | B |
<Instruct>: Given the context 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', select the correct biomedical concept corresponding to 'arthritis'. Answer using one of the provided options. | <Options>: A: childhood arthritis (aka arthritis, juvenile)
B: arths (aka arboleda-tham syndrome)
C: arthritis, reactive
D: arthritis
E: joint disease (aka joint diseases)
F: None of the above. | D |
<Instruct>: Given the context 'HLA histocompatibility typing of the family members did not demonstrate evidence for genetic linkage of C7 deficiency with the major histocompatibility loci.', select the correct biomedical concept corresponding to 'c7 deficiency'. Answer using one of the provided options. | <Options>: A: c7d (aka complement component 7 deficiency)
B: c9 deficiency
C: deficiencies, factor vii (aka factor vii deficiency)
D: c5 deficiency (aka complement component 5 deficiency)
E: immunodeficiency 7
F: None of the above. | A |
<Instruct>: Given the context 'This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections.', select the correct biomedical concept corresponding to 'c7 deficiency'. Answer using one of the provided options. | <Options>: A: deficiency, factor 7 (aka factor vii deficiency)
B: c7d (aka complement component 7 deficiency)
C: c6 deficiency (aka complement component 6 deficiency)
D: c9 deficiency
E: c5 deficiency (aka complement component 5 deficiency)
F: None of the above. | B |
<Instruct>: Given the context 'This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections.', select the correct biomedical concept corresponding to 'bacteremic neisseria infections'. Answer using one of the provided options. | <Options>: A: central nervous system bacterial infections
B: neisseriaceae infection (aka neisseriaceae infections)
C: infection, gram-negative bacterial (aka gram-negative bacterial infections)
D: bacteremia
E: meningitides, bacterial (aka meningitis, bacterial)
F: None of the above. | B |
<Instruct>: Given the context 'GCH1 mutation in a patient with adult-onset oromandibular dystonia.
', select the correct biomedical concept corresponding to 'oromandibular dystonia'. Answer using one of the provided options. | <Options>: A: blepharospasm-oromandibular dystonia syndrome (aka meige syndrome)
B: None of the above. | A |
<Instruct>: Given the context 'The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.', select the correct biomedical concept corresponding to 'oromandibular dystonia'. Answer using one of the provided options. | <Options>: A: blepharospasm-oromandibular dystonia syndromes (aka meige syndrome)
B: None of the above. | A |
<Instruct>: Given the context 'The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.', select the correct biomedical concept corresponding to 'dystonia'. Answer using one of the provided options. | <Options>: A: familial dystonia, autosomal dominant (aka dystonic disorders)
B: limb dystonia (aka dystonia)
C: None of the above. | B |
<Instruct>: Given the context 'These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.', select the correct biomedical concept corresponding to 'dystonic'. Answer using one of the provided options. | <Options>: A: tardive dystonias (aka tardive dyskinesia)
B: muscle dystonia (aka dystonia)
C: primary dystonia (aka dystonic disorders)
D: None of the above. | B |
<Instruct>: Given the context 'These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.', select the correct biomedical concept corresponding to 'dopa-responsive dystonia'. Answer using one of the provided options. | <Options>: A: dystonia, hereditary (aka dystonic disorders)
B: dopa-responsive dystonia, autosomal dominant (aka dystonia, dopa-responsive)
C: dopa responsive dystonia, autosomal recessive (aka segawa syndrome, autosomal recessive)
D: None of the above. | B |
<Instruct>: Given the context 'The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.
', select the correct biomedical concept corresponding to 'hereditary hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, juvenile (aka hemochromatosis, type 2)
B: african hemochromatosis
C: genetic hemochromatosis (aka hemochromatosis)
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: None of the above. | C |
<Instruct>: Given the context 'The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.
', select the correct biomedical concept corresponding to 'hereditary hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
B: hemochromatosis, juvenile (aka hemochromatosis, type 2)
C: african hemochromatosis
D: None of the above. | D |
<Instruct>: Given the context 'HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E ., Quintana, L., Starnes, S. M ., Schatzman, R. C .,', select the correct biomedical concept corresponding to 'autosomal recessive disease'. Answer using one of the provided options. | <Options>: A: disease, rare (aka rare diseases)
B: x-linked genetic disease (aka genetic diseases, x-linked)
C: inborn genetic diseases (aka genetic diseases, inborn)
D: None of the above. | C |
<Instruct>: Given the context 'HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E ., Quintana, L., Starnes, S. M ., Schatzman, R. C .,', select the correct biomedical concept corresponding to 'hereditary hemochromatosis'. Answer using one of the provided options. | <Options>: A: african hemochromatosis
B: juvenile hemochromatosis (aka hemochromatosis, type 2)
C: hemochromatosis, hereditary (aka hemochromatosis)
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: None of the above. | C |
<Instruct>: Given the context 'These results also have implications for the understanding of cellular iron homeostasis in organs such as the liver, pancreas, heart, and spleen that are iron loaded in hereditary hemochromatotic individuals lacking functional HFE.', select the correct biomedical concept corresponding to 'hereditary hemochromatotic'. Answer using one of the provided options. | <Options>: A: african hemochromatosis
B: hemochromatose (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 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', select the correct biomedical concept corresponding to 'familial mediterranean fever'. Answer using one of the provided options. | <Options>: A: fever, familial lifelong persistent
B: familial mediterranean fever
C: anemias, mediterranean (aka beta-thalassemia)
D: cyprus fever (aka brucellosis)
E: lymphoma, mediterranean (aka immunoproliferative small intestinal disease)
F: None of the above. | B |
<Instruct>: Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', select the correct biomedical concept corresponding to 'familial mediterranean fever'. Answer using one of the provided options. | <Options>: A: lymphoma, mediterranean (aka immunoproliferative small intestinal disease)
B: mediterranean fever, familial (aka familial mediterranean fever)
C: fever, familial lifelong persistent
D: hereditary recurrent fevers (aka hereditary autoinflammatory diseases)
E: fpf (aka periodic fever, familial, autosomal dominant)
F: None of the above. | B |
<Instruct>: Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', select the correct biomedical concept corresponding to 'fmf'. Answer using one of the provided options. | <Options>: A: fmfd ii (aka familial multiple coagulation factor deficiency ii)
B: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
C: fatigue-fibromyalgia syndrome, chronic (aka fatigue syndrome, chronic)
D: fmfd1 (aka familial multiple coagulation factor deficiency i)
E: fmf, autosomal dominant (aka familial mediterranean fever)
F: None of the above. | E |
<Instruct>: Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', select the correct biomedical concept corresponding to 'recessive disorder'. Answer using one of the provided options. | <Options>: A: rare diseases
B: disorders, congenital (aka congenital, hereditary, and neonatal diseases and abnormalities)
C: genetic diseases, inborn
D: None of the above. | C |
<Instruct>: Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', select the correct biomedical concept corresponding to 'serositis'. Answer using one of the provided options. | <Options>: A: mucositis
B: cellulitis
C: muscular rheumatism (aka fibromyalgia)
D: serositis
E: musculoskeletal diseases
F: None of the above. | D |
<Instruct>: Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', select the correct biomedical concept corresponding to 'synovitis'. Answer using one of the provided options. | <Options>: A: synovioma (aka sarcoma, synovial)
B: tenosynovitis
C: rheumatism (aka rheumatic diseases)
D: rheumatic arthritides (aka rheumatic fever)
E: synovial thickening (aka synovitis)
F: None of the above. | E |
<Instruct>: Given the context 'The FMF gene (MEFV) was cloned recently, and four missense mutations were identified.', select the correct biomedical concept corresponding to 'fmf'. Answer using one of the provided options. | <Options>: A: fmfd iv (aka familial multiple coagulation factor deficiency iv)
B: fmfd ii (aka familial multiple coagulation factor deficiency ii)
C: chronic fatigue fibromyalgia syndrome (aka fatigue syndrome, chronic)
D: syndromes, fibromyositis-fibromyalgia (aka fibromyalgia)
E: fmf (aka familial mediterranean fever)
F: None of the above. | E |
<Instruct>: Given the context 'The FMF gene (MEFV) was cloned recently, and four missense mutations were identified.', select the correct biomedical concept corresponding to 'fmf'. Answer using one of the provided options. | <Options>: A: fmfd1 (aka familial multiple coagulation factor deficiency i)
B: syndromes, fibromyalgia-fibromyositis (aka fibromyalgia)
C: fmfd iv (aka familial multiple coagulation factor deficiency iv)
D: fmfd ii (aka familial multiple coagulation factor deficiency ii)
E: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
F: None of the above. | F |
<Instruct>: Given the context 'Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations.', select the correct biomedical concept corresponding to 'fmf'. Answer using one of the provided options. | <Options>: A: syndrome, fibromyositis-fibromyalgia (aka fibromyalgia)
B: fmfd1 (aka familial multiple coagulation factor deficiency i)
C: fmfd iv (aka familial multiple coagulation factor deficiency iv)
D: fmfd ii (aka familial multiple coagulation factor deficiency ii)
E: fmf, autosomal dominant (aka familial mediterranean fever)
F: None of the above. | E |
<Instruct>: Given the context 'Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF.', select the correct biomedical concept corresponding to 'fmf'. Answer using one of the provided options. | <Options>: A: fmfd iv (aka familial multiple coagulation factor deficiency iv)
B: fmfd1 (aka familial multiple coagulation factor deficiency i)
C: syndromes, fibromyalgia-fibromyositis (aka fibromyalgia)
D: fmf, autosomal dominant (aka familial mediterranean fever)
E: fmfd ii (aka familial multiple coagulation factor deficiency ii)
F: None of the above. | D |
<Instruct>: Given the context 'Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.', select the correct biomedical concept corresponding to 'autoimmune lymphoproliferative syndrome'. Answer using one of the provided options. | <Options>: A: immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation
B: autoimmune lymphoproliferative disease without fas mutations (aka dianzani autoimmune lymphoproliferative syndrome)
C: ceds (aka autoimmune lymphoproliferative syndrome)
D: autoimmune lymphoproliferative syndrome, type i, autosomal recessive
E: lymphoproliferative disorders
F: None of the above. | C |
<Instruct>: Given the context 'Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.', select the correct biomedical concept corresponding to 'autoimmune lymphoproliferative syndrome'. Answer using one of the provided options. | <Options>: A: autoimmune lymphoproliferative syndrome without fas mutations (aka dianzani autoimmune lymphoproliferative syndrome)
B: lymphoproliferative syndromes, autoimmune (aka autoimmune lymphoproliferative syndrome)
C: lymphoproliferative disorders
D: autoimmune lymphoproliferative syndrome, type iii
E: immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation
F: None of the above. | B |
<Instruct>: Given the context 'Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
B: alps (aka autoimmune lymphoproliferative syndrome)
C: alp (aka atherosclerosis)
D: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
E: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
F: None of the above. | B |
<Instruct>: Given the context 'Of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7-9, which encode the intracellular portion of Fas.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
B: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
C: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
D: alps1b, included (aka autoimmune lymphoproliferative syndrome)
E: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
F: None of the above. | D |
<Instruct>: Given the context 'Two missense Fas variants, not restricted to patients with ALPS, were identified.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps1a, included (aka autoimmune lymphoproliferative syndrome)
B: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
C: alps2a (aka autoimmune lymphoproliferative syndrome, type iia)
D: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
E: alp (aka atherosclerosis)
F: None of the above. | A |
<Instruct>: Given the context 'Among the ALPS-associated Fas mutants, dominant inhibition of apoptosis was much more pronounced in mutants affecting the intracellular, versus extracellular, portion of the Fas receptor.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps2a (aka autoimmune lymphoproliferative syndrome, type iia)
B: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
C: alp (aka atherosclerosis)
D: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
E: alps1a, included (aka autoimmune lymphoproliferative syndrome)
F: None of the above. | E |
<Instruct>: Given the context 'Mutations causing disruption of the intracellular Fas death domain also showed a higher penetrance of ALPS phenotype features in mutation-bearing relatives.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
B: alp (aka atherosclerosis)
C: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
D: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
E: alps1a, included (aka autoimmune lymphoproliferative syndrome)
F: None of the above. | E |
<Instruct>: Given the context 'Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps2b (aka autoimmune lymphoproliferative syndrome)
B: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
C: alp (aka atherosclerosis)
D: alper's disease (aka diffuse cerebral sclerosis of schilder)
E: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
F: None of the above. | A |
<Instruct>: Given the context 'Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alp (aka atherosclerosis)
B: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
C: alper's syndrome (aka diffuse cerebral sclerosis of schilder)
D: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
E: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
F: None of the above. | F |
<Instruct>: Given the context 'Thus, the location of mutations within APT1 strongly influences the development and the severity of ALPS.', select the correct biomedical concept corresponding to 'alps'. Answer using one of the provided options. | <Options>: A: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
B: alp (aka atherosclerosis)
C: alps (aka autoimmune lymphoproliferative syndrome)
D: alps2a (aka autoimmune lymphoproliferative syndrome, type iia)
E: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
F: None of the above. | C |
<Instruct>: Given the context 'Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
', select the correct biomedical concept corresponding to 'x-linked adrenoleukodystrophy'. Answer using one of the provided options. | <Options>: A: adrenoleukodystrophy
B: adrenomyodystrophy
C: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
D: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
E: alpha-lipoprotein deficiency disease, familial (aka hypoalphalipoproteinemias)
F: None of the above. | A |
<Instruct>: Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', select the correct biomedical concept corresponding to 'x-linked adrenoleukodystrophy'. Answer using one of the provided options. | <Options>: A: adrenomyodystrophy
B: adrenoleukodystrophies, neonatal (aka peroxisomal disorders)
C: ald (aka adrenoleukodystrophy)
D: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
E: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
F: None of the above. | C |
<Instruct>: Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', select the correct biomedical concept corresponding to 'ald'. Answer using one of the provided options. | <Options>: A: aldob deficiencies (aka fructose intolerance)
B: aldosteronism (aka hyperaldosteronism)
C: alexander disease
D: aldoa deficiency (aka glycogen storage disease xii)
E: adrenoleukodystrophy
F: None of the above. | E |
<Instruct>: Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', select the correct biomedical concept corresponding to 'inherited disease'. Answer using one of the provided options. | <Options>: A: genetic disease, inborn (aka genetic diseases, inborn)
B: diseases (aka disease)
C: genetic predisposition to disease
D: None of the above. | A |
<Instruct>: Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', select the correct biomedical concept corresponding to 'neurologic dysfunction'. Answer using one of the provided options. | <Options>: A: disorder, neurological (aka nervous system diseases)
B: neurologic manifestations
C: None of the above. | B |
<Instruct>: Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', select the correct biomedical concept corresponding to 'adrenal insufficiency'. Answer using one of the provided options. | <Options>: A: adrenal cortex disease (aka adrenal cortex diseases)
B: adrenal unresponsiveness to acth (aka familial glucocorticoid deficiency 1)
C: adrenal gland hypofunction (aka adrenal insufficiency)
D: hypoplasia, congenital adrenal (aka hypoadrenocorticism, familial)
E: adrenal insufficiency, congenital
F: None of the above. | C |
<Instruct>: Given the context 'The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.', select the correct biomedical concept corresponding to 'ald'. Answer using one of the provided options. | <Options>: A: aldosteronism (aka hyperaldosteronism)
B: alexander disease
C: atherosclerosis
D: x ald (x linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
E: aortic diseases
F: None of the above. | D |
<Instruct>: Given the context 'The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.', select the correct biomedical concept corresponding to 'childhood cerebral ald'. Answer using one of the provided options. | <Options>: A: aldolase b deficiencies (aka fructose intolerance)
B: adult learning disorders (aka learning disabilities)
C: aldoa 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 classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.', select the correct biomedical concept corresponding to 'neurologic deterioration'. Answer using one of the provided options. | <Options>: A: dysfunction, neurologic (aka neurologic manifestations)
B: neurologic degenerative disease (aka neurodegenerative diseases)
C: None of the above. | A |
<Instruct>: Given the context 'The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.', select the correct biomedical concept corresponding to 'neurologic deterioration'. Answer using one of the provided options. | <Options>: A: degenerative neurologic disorders (aka neurodegenerative diseases)
B: None of the above. | B |
<Instruct>: Given the context 'Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction.', select the correct biomedical concept corresponding to 'cerebral ald'. Answer using one of the provided options. | <Options>: A: x-ald (aka adrenoleukodystrophy)
B: aldoa deficiency (aka glycogen storage disease xii)
C: disease, cerebral arterial (aka cerebral arterial diseases)
D: alexander's disease (aka alexander disease)
E: aldob deficiency (aka fructose intolerance)
F: None of the above. | A |
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