instruction stringlengths 144 856 | input stringlengths 42 1.06k | response stringclasses 11 values |
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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 neoplasm (aka neoplasms, glandular and epithelial)
B: skin cancers (aka skin neoplasms)
C: tumor (aka neoplasms)
D: dermatosis (aka skin diseases)
E: adnexal and skin appendage neoplasms (aka neoplasms, adnexal and skin appendage)
F: None of the above. | B |
<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: carcinogenesis
B: tumor (aka neoplasms)
C: carcinoma
D: None of the above. | B |
<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: cancers, colon (aka colonic neoplasms)
B: colorectal cancer (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: fap1 (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: familial adenomatous polyposis coli (aka adenomatous polyposis coli)
B: familial adenomatous polyposis 2 (aka colorectal adenomatous polyposis, autosomal recessive)
C: adenomatous polyposis coli, attenuated
D: None of the above. | A |
<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: neoplasms
B: cancer, skin (aka skin neoplasms)
C: epithelial neoplasms (aka neoplasms, glandular and epithelial)
D: 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: keratosis pilaris (aka burnett schwartz berberian syndrome)
B: keratoacanthoma familial
C: folliculosebaceous cystic hamartoma (aka trichofolliculoma)
D: pilar cyst (aka epidermal cyst)
E: keratoacanthomas (aka keratoacanthoma)
F: pilomatrixoma, benign (aka pilomatrixoma)
G: hamartoma
H: acanthoma, pilar sheath (aka acanthoma)
I: None of the above. | F |
<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: pilomatricoma (aka pilomatrixoma)
B: keratosis pilaris (aka burnett schwartz berberian syndrome)
C: folliculosebaceous cystic hamartoma (aka trichofolliculoma)
D: acanthoma, pilar sheath (aka acanthoma)
E: keratoacanthoma familial
F: keratoacanthoma
G: hamartoma
H: pilar cyst (aka epidermal cyst)
I: None of the above. | A |
<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: adnexal and skin appendage neoplasms (aka neoplasms, adnexal and skin appendage)
B: dermatosis (aka skin diseases)
C: tumor (aka neoplasms)
D: neoplasms, skin (aka skin neoplasms)
E: epithelial neoplasms (aka neoplasms, glandular and epithelial)
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: neoplastic processes
B: tumorigenesis (aka carcinogenesis)
C: neoplasms
D: neoplasm site (aka neoplasms by site)
E: None of the above. | C |
<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: acanthomas, pilar sheath (aka acanthoma)
B: benign pilomatrixoma (aka pilomatrixoma)
C: pilar cyst (aka epidermal cyst)
D: hamartoma
E: keratoacanthoma familial
F: keratosis pilaris (aka burnett schwartz berberian syndrome)
G: keratoacanthomas (aka keratoacanthoma)
H: folliculosebaceous cystic hamartoma (aka trichofolliculoma)
I: None of the above. | B |
<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: site, neoplasm (aka neoplasms by site)
B: neoplastic processes
C: neoplasia (aka neoplasms)
D: tumorigenesis (aka carcinogenesis)
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: tumorigenesis (aka carcinogenesis)
B: cancer (aka neoplasms)
C: neoplastic processes
D: site, neoplasm (aka neoplasms by site)
E: 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 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: familial hemochromatoses (aka hemochromatosis)
B: hemochromatosis, type 3
C: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
D: hemochromatosis, type 2
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, type 2
B: familial hemochromatoses (aka hemochromatosis)
C: hemochromatosis, type 4
D: hemochromatosis, type 3
E: 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 'hereditary hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, type 2
B: hemochromatosis, genetic (aka hemochromatosis)
C: hemochromatosis, type 3
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: african hemochromatosis
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 'hh'. Answer using one of the provided options. | <Options>: A: ihh (aka idiopathic hypogonadotropic hypogonadism)
B: hhhh syndrome
C: hht1 (aka telangiectasia, hereditary hemorrhagic)
D: fhh (aka hypocalciuric hypercalcemia, familial, type 1)
E: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
F: hhs, included (aka dyskeratosis congenita)
G: hh (aka hemochromatosis)
H: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
I: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
J: hh12 (aka eunuchoidism, familial hypogonadotropic)
K: None of the above. | G |
<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: orphan diseases (aka rare diseases)
B: autosomal dominant (aka multiple pterygium syndrome, autosomal dominant)
C: single-gene defects (aka genetic diseases, inborn)
D: genetic non-disjunctions (aka nondisjunction, genetic)
E: 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: ihh (aka idiopathic hypogonadotropic hypogonadism)
B: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
C: hh (aka hemochromatosis)
D: hh12 (aka eunuchoidism, familial hypogonadotropic)
E: hht1 (aka telangiectasia, hereditary hemorrhagic)
F: hhh syndrome
G: hhs, included (aka dyskeratosis congenita)
H: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
I: hhhh syndrome
J: hhc1 (aka hypocalciuric hypercalcemia, familial, type 1)
K: 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: hhhh syndrome
B: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
C: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
D: hh12 (aka eunuchoidism, familial hypogonadotropic)
E: ihh (aka idiopathic hypogonadotropic hypogonadism)
F: hh (aka hemochromatosis)
G: hhs, included (aka dyskeratosis congenita)
H: hht1 (aka telangiectasia, hereditary hemorrhagic)
I: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
J: hhh (aka hhh syndrome)
K: 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: hhs, included (aka dyskeratosis congenita)
B: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
C: hypocalciuric hypercalcemia, familial, type i (aka hypocalciuric hypercalcemia, familial, type 1)
D: hhhh syndrome
E: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
F: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
G: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
H: hht1 (aka telangiectasia, hereditary hemorrhagic)
I: hhh (aka hhh syndrome)
J: hh (aka hemochromatosis)
K: None of the above. | J |
<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: haemochromatosis (aka hemochromatosis)
B: hemochromatosis, type 3
C: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
D: hemochromatosis, type 2
E: None of the above. | A |
<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: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
B: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
C: hhs, included (aka dyskeratosis congenita)
D: hh (aka hemochromatosis)
E: hh12 (aka eunuchoidism, familial hypogonadotropic)
F: hypocalciuric hypercalcemia, familial, type 1
G: hhh syndrome
H: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
I: hh7 (aka idiopathic hypogonadotropic hypogonadism)
J: hhhh syndrome
K: None of the above. | D |
<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: hhhh syndrome
B: hh (aka hemochromatosis)
C: hh7 (aka idiopathic hypogonadotropic hypogonadism)
D: hypocalciuric hypercalcemia, familial, type i (aka hypocalciuric hypercalcemia, familial, type 1)
E: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
F: hhs, included (aka dyskeratosis congenita)
G: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
H: hht1 (aka telangiectasia, hereditary hemorrhagic)
I: hh12 (aka eunuchoidism, familial hypogonadotropic)
J: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
K: 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: hhhh syndrome
B: hh (aka hemochromatosis)
C: hhhs (aka hhh syndrome)
D: fhh (aka hypocalciuric hypercalcemia, familial, type 1)
E: hhs, included (aka dyskeratosis congenita)
F: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
G: hht1 (aka telangiectasia, hereditary hemorrhagic)
H: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
I: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
J: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
K: 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 'hemochromatosis'. Answer using one of the provided options. | <Options>: A: hemochromatosis, type 1 (aka hemochromatosis)
B: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
C: hemochromatosis, type 2
D: hemochromatosis, type 3
E: None of the above. | A |
<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: ovarian epithelial cancer (aka carcinoma, ovarian epithelial)
B: cancer of the ovary (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 neoplasms (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: cancers, ovarian (aka ovarian neoplasms)
B: ovarian epithelial cancer (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: cancer, epithelial ovarian (aka carcinoma, ovarian epithelial)
B: ovary cancer (aka ovarian neoplasms)
C: 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: cancers, ovarian (aka ovarian neoplasms)
B: epithelial ovarian cancers (aka carcinoma, ovarian epithelial)
C: None of the above. | A |
<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: cancer of the ovary (aka ovarian neoplasms)
B: epithelial carcinoma, ovarian (aka carcinoma, ovarian epithelial)
C: None of the above. | A |
<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: malignant neoplasm (aka neoplasms)
B: carcinomatoses (aka carcinoma)
C: oncogenesis (aka carcinogenesis)
D: None of the above. | A |
<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: oncogenesis (aka carcinogenesis)
B: carcinomatoses (aka carcinoma)
C: cancers (aka neoplasms)
D: None of the above. | C |
<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: epithelial cancer, ovarian (aka carcinoma, ovarian epithelial)
B: cancer of ovary (aka ovarian neoplasms)
C: None of the above. | B |
<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: epithelial ovarian cancer (aka carcinoma, ovarian epithelial)
B: ovarian cancer (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: cancer, ovary (aka ovarian neoplasms)
B: cancer, ovarian epithelial (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: hereditary polyposis coli (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: apc (aka adenomatous polyposis coli)
B: 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 carcinomas (aka colorectal neoplasms)
B: colonic cancers (aka colonic neoplasms)
C: 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: carcinomas, colorectal (aka colorectal neoplasms)
B: adenocarcinoma, colon (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: carcinogenesis
B: carcinomatoses (aka carcinoma)
C: tumor (aka neoplasms)
D: None of the above. | C |
<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: c7 deficiency (aka complement component 7 deficiency)
B: cfdd (aka complement factor d deficiency)
C: f7 deficiency (aka factor vii deficiency)
D: cfbd (aka complement factor b deficiency)
E: complement component 9 deficiency (aka c9 deficiency)
F: complement component 5 deficiency
G: complement component 8b deficiency (aka complement component 8 deficiency, type ii)
H: complement factor i deficiency
I: complement component 6 deficiency
J: 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 'bacteremic infections due to neisseria'. Answer using one of the provided options. | <Options>: A: bacterial meningitides (aka meningitis, bacterial)
B: neisseriaceae infections
C: hemophilus meningitides (aka meningitis, haemophilus)
D: central nervous system bacterial infections
E: neisseria meningitides (aka meningitis, meningococcal)
F: neisseria gonorrhoeae infection (aka gonorrhea)
G: infections, meningococcal (aka meningococcal infections)
H: 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 'disseminated gonococcal infection'. Answer using one of the provided options. | <Options>: A: fusarioses, disseminated (aka fusariosis)
B: c gattii infections (aka cryptococcosis)
C: genital candidiasis (aka candidiasis, vulvovaginal)
D: gonococcal perihepatitis (aka fitz-hugh-curtis syndrome)
E: deep gluteal syndrome (aka hip socket neuropathy)
F: acute disseminated encephalomyelitides (aka encephalomyelitis, acute disseminated)
G: infection, meningococcal (aka meningococcal infections)
H: gonorrhea
I: disseminated trichosporonoses (aka trichosporonosis)
J: 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: bacterial meningitis (aka meningitis, bacterial)
B: meningitis
C: infections, meningococcal (aka meningococcal infections)
D: serogroup y, meningococcal meningitis (aka meningitis, meningococcal)
E: None of the above. | D |
<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: joint disease (aka joint diseases)
B: pains, joint (aka arthralgia)
C: arthrosis (aka osteoarthritis)
D: inflammatory rheumatism (aka rheumatic fever)
E: rheumatic disease (aka rheumatic diseases)
F: reactive arthritis (aka arthritis, reactive)
G: arthritis
H: None of the above. | G |
<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: c6 deficiency, subtotal
B: factor seven deficiencies (aka factor vii deficiency)
C: aplasia cutis congenita, nonsyndromic (aka ectodermal dysplasia)
D: c6 deficiency, subtotal, included (aka complement component 6 deficiency)
E: factor vii and factor viii, combined deficiency (aka familial multiple coagulation factor deficiency iv)
F: chromosome 7, monosomy 7p2 (aka 7p2 monosomy syndrome)
G: c7d (aka complement component 7 deficiency)
H: monosomy 7 (aka chromosome 7, monosomy)
I: None of the above. | G |
<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: deletion 7q3 (aka chromosome 7, monosomy 7q3)
B: c6 deficiency, subtotal
C: chromosome 7, monosomy 7q2
D: chromosome 7, monosomy 7p2 (aka 7p2 monosomy syndrome)
E: chromosome 7, monosomy
F: c6 deficiency, subtotal, included (aka complement component 6 deficiency)
G: chromosome 7, trisomy 7p
H: c7 deficiency (aka complement component 7 deficiency)
I: chromosome 7, monosomy 7q21
J: factor 7 deficiency (aka factor vii deficiency)
K: None of the above. | H |
<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: bacterial meningitis (aka meningitis, bacterial)
B: meningitis
C: meningococcal septicemia (aka meningococcal infections)
D: serogroup y, meningococcal meningitis (aka meningitis, meningococcal)
E: None of the above. | D |
<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: rheumatic disease (aka rheumatic diseases)
B: rheumatic arthritis (aka rheumatic fever)
C: osteoarthritis
D: arthritis
E: pains, joint (aka arthralgia)
F: reactive arthritis (aka arthritis, reactive)
G: joint diseases
H: 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: c6 deficiency (aka complement component 6 deficiency)
B: factor vii and factor viii, combined deficiency (aka familial multiple coagulation factor deficiency iv)
C: c9 deficiency
D: factor 8 deficiency, congenital (aka hemophilia a)
E: deficiencies, factor seven (aka factor vii deficiency)
F: c7d (aka complement component 7 deficiency)
G: None of the above. | F |
<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: c9 deficiency
B: factor 8 deficiency, congenital (aka hemophilia a)
C: c6 deficiency (aka complement component 6 deficiency)
D: c7 deficiency (aka complement component 7 deficiency)
E: factor vii and factor viii, combined deficiency (aka familial multiple coagulation factor deficiency iv)
F: deficiency, factor vii (aka factor vii deficiency)
G: None of the above. | D |
<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: neisseriaceae infection (aka neisseriaceae infections)
B: neisseria gonorrhoeae infection (aka gonorrhea)
C: infections, bacterial, central nervous system (aka central nervous system bacterial infections)
D: infection, meningococcal (aka meningococcal infections)
E: neisseria meningitides (aka meningitis, meningococcal)
F: bacterial meningitides (aka meningitis, bacterial)
G: hemophilus meningitides (aka meningitis, haemophilus)
H: bacteremia
I: None of the above. | A |
<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: dyskinesias, orofacial (aka dyskinesias)
B: dystonias, blepharospasm-oromandibular (aka meige syndrome)
C: None of the above. | B |
<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: orofacial dyskinesia (aka dyskinesias)
B: blepharospasm-oromandibular dystonias (aka meige syndrome)
C: None of the above. | B |
<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: hereditary dystonias (aka dystonic disorders)
B: dystonias, torsion (aka dystonia musculorum deformans)
C: dystonia, muscle (aka dystonia)
D: tardive dystonias (aka tardive dyskinesia)
E: None of the above. | C |
<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: dystonia disorder (aka dystonic disorders)
B: dystonia, limb (aka dystonia)
C: cerebral palsy, dystonic rigid (aka cerebral palsy)
D: dysthymic disorders (aka dysthymic disorder)
E: tardive dystonias (aka tardive dyskinesia)
F: 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-parkinsonism, rapid-onset (aka dystonia 12)
B: autosomal dominant familial dystonia (aka dystonic disorders)
C: dopa-responsive dystonia (aka dystonia, dopa-responsive)
D: dopa responsive dystonia, autosomal recessive (aka segawa syndrome, autosomal recessive)
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, type 2
B: african hemochromatosis
C: hemochromatosis, genetic (aka hemochromatosis)
D: hemochromatosis, type 3
E: hemochromatosis, type 4
F: 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 'autosomal recessive disease'. Answer using one of the provided options. | <Options>: A: genetic disease (aka genetic diseases, inborn)
B: albers-schonberg disease, autosomal recessive (aka osteopetrosis, autosomal recessive 1)
C: autosomal recessive parkinsonism (aka parkinsonian disorders)
D: rare disease (aka rare diseases)
E: autosomal recessive infantile parkinsonism (aka segawa syndrome, autosomal recessive)
F: autosomal dominant (aka multiple pterygium syndrome, autosomal dominant)
G: None of the above. | A |
<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: hemochromatosis, type 3
B: hfe1 (aka hemochromatosis)
C: african hemochromatosis
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: hemochromatosis, type 2
F: None of the above. | B |
<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: genetic hemochromatosis (aka hemochromatosis)
C: hemochromatosis, type 2
D: hemochromatosis, type 5
E: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
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: hereditary periodic fever syndromes (aka hereditary autoinflammatory diseases)
B: polyserositis, familial paroxysmal (aka familial mediterranean fever)
C: hyperimmunoglobulinemia d and periodic fever syndrome (aka mevalonate kinase deficiency)
D: lymphoma, mediterranean (aka immunoproliferative small intestinal disease)
E: fhf (aka periodic fever, familial, autosomal dominant)
F: fever, familial lifelong persistent
G: fibrosing serositis, familial (aka jacobs syndrome)
H: 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: hereditary autoinflammatory disease (aka hereditary autoinflammatory diseases)
C: fever, familial lifelong persistent
D: fhf (aka periodic fever, familial, autosomal dominant)
E: paroxysmal polyserositis, familial (aka familial mediterranean fever)
F: fibrosing serositis, familial (aka jacobs syndrome)
G: hyperimmunoglobulinemia d and periodic fever syndrome (aka mevalonate kinase deficiency)
H: 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 'fmf'. Answer using one of the provided options. | <Options>: A: fmfd1 (aka factor v and factor viii, combined deficiency of, 1)
B: fmfd1 (aka familial multiple coagulation factor deficiency i)
C: fmf (aka familial mediterranean fever)
D: fibromyalgia-fibromyositis syndrome (aka fibromyalgia)
E: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
F: fmfd iv (aka familial multiple coagulation factor deficiency iv)
G: fmfd ii (aka familial multiple coagulation factor deficiency ii)
H: fammm (aka melanoma, cutaneous malignant)
I: 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 'recessive disorder'. Answer using one of the provided options. | <Options>: A: diseases, genetic (aka genetic diseases, inborn)
B: autosomal dominant (aka multiple pterygium syndrome, autosomal dominant)
C: orphan diseases (aka rare diseases)
D: None of the above. | A |
<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: lymphadenitides (aka lymphadenitis)
B: cellulitis
C: peritonitis
D: seromas (aka seroma)
E: mucositis
F: mastitis
G: funisitis (aka chorioamnionitis)
H: steatitides (aka steatitis)
I: myositis
J: serositis
K: None of the above. | J |
<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: periarthritis
B: tenosynovitis
C: rheumatism, inflammatory (aka rheumatic fever)
D: arthritis
E: rheumatism (aka rheumatic diseases)
F: synoviomas (aka sarcoma, synovial)
G: reactive arthritis (aka arthritis, reactive)
H: thickenings, synovial (aka synovitis)
I: None of the above. | H |
<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 iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
B: fmfd iv (aka familial multiple coagulation factor deficiency iv)
C: fmf (aka familial mediterranean fever)
D: fammm (aka melanoma, cutaneous malignant)
E: fibromyositis fibromyalgia syndrome (aka fibromyalgia)
F: fmfd i (aka familial multiple coagulation factor deficiency i)
G: fmfd ii (aka familial multiple coagulation factor deficiency ii)
H: fmfd1 (aka factor v and factor viii, combined deficiency of, 1)
I: None of the above. | C |
<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: fmfd iv (aka familial multiple coagulation factor deficiency iv)
B: fmfd i (aka factor v and factor viii, combined deficiency of, 1)
C: fmfd ii (aka familial multiple coagulation factor deficiency ii)
D: fibromyalgia-fibromyositis syndromes (aka fibromyalgia)
E: fmf, autosomal dominant (aka familial mediterranean fever)
F: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
G: fammm (aka melanoma, cutaneous malignant)
H: fmfd i (aka familial multiple coagulation factor deficiency i)
I: 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 factor v and factor viii, combined deficiency of, 1)
C: fammm (aka melanoma, cutaneous malignant)
D: fmfd1 (aka familial multiple coagulation factor deficiency i)
E: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
F: fmf (aka familial mediterranean fever)
G: fibromyositis-fibromyalgia syndromes (aka fibromyalgia)
H: fmfd ii (aka familial multiple coagulation factor deficiency ii)
I: None of the above. | F |
<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: autoimmune lymphoproliferative syndrome, type ia
C: autoimmune lymphoproliferative syndrome, type iii
D: autoimmune lymphoproliferative syndrome, type ib
E: autoimmune lymphoproliferative syndrome, type iia
F: autoimmune lymphoproliferative syndrome, type i, autosomal recessive, included (aka autoimmune lymphoproliferative syndrome)
G: autoimmune lymphoproliferative syndrome, type i, autosomal recessive
H: autoimmune lymphoproliferative syndrome, type v (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
I: None of the above. | F |
<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, type ii (aka autoimmune lymphoproliferative syndrome, type iia)
B: alps (aka autoimmune lymphoproliferative syndrome)
C: autoimmune lymphoproliferative syndrome, type ia
D: autoimmune lymphoproliferative syndrome, type iii
E: autoimmune lymphoproliferative syndrome without fas mutations (aka dianzani autoimmune lymphoproliferative syndrome)
F: autoimmune lymphoproliferative syndrome, type i, autosomal recessive
G: autoimmune lymphoproliferative syndrome, type v (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
H: autoimmune lymphoproliferative syndrome, type ib
I: 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: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
B: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
C: alpers disease (aka diffuse cerebral sclerosis of schilder)
D: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
E: alps (aka autoimmune lymphoproliferative syndrome)
F: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
G: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
H: None of the above. | E |
<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: alper's syndrome (aka diffuse cerebral sclerosis of schilder)
B: alps2b (aka autoimmune lymphoproliferative syndrome)
C: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
D: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
E: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
F: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
G: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
H: None of the above. | B |
<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: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
B: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
C: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
D: alper syndrome (aka diffuse cerebral sclerosis of schilder)
E: alps1b, included (aka autoimmune lymphoproliferative syndrome)
F: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
G: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
H: None of the above. | E |
<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: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
B: alper's syndrome (aka diffuse cerebral sclerosis of schilder)
C: alps1b, included (aka autoimmune lymphoproliferative syndrome)
D: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
E: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
F: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
G: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
H: None of the above. | C |
<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: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
B: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
C: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
D: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
E: alpers' disease (aka diffuse cerebral sclerosis of schilder)
F: autoimmune lymphoproliferative syndrome type 2b (alps2b) (aka autoimmune lymphoproliferative syndrome)
G: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
H: None of the above. | F |
<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: alps2a (aka autoimmune lymphoproliferative syndrome, type iia)
B: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
C: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
D: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
E: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
F: alpers' syndrome (aka diffuse cerebral sclerosis of schilder)
G: alps2b (aka autoimmune lymphoproliferative syndrome)
H: None of the above. | G |
<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: autoimmune lymphoproliferative syndrome type 2b (alps2b) (aka autoimmune lymphoproliferative syndrome)
B: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
C: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
D: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
E: alps2a (aka autoimmune lymphoproliferative syndrome, type iia)
F: disease, alpers' (aka diffuse cerebral sclerosis of schilder)
G: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
H: None of the above. | A |
<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, autosomal neonatal form (aka peroxisomal disorders)
B: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
C: x-ald (aka adrenoleukodystrophy)
D: adrenomyodystrophy
E: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
F: familial alpha lipoprotein deficiency disease (aka hypoalphalipoproteinemias)
G: 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 'x-linked adrenoleukodystrophy'. Answer using one of the provided options. | <Options>: A: adrenoleukodystrophy
B: adrenoleukodystrophies, neonatal (aka peroxisomal disorders)
C: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
D: familial alpha lipoprotein deficiency disease (aka hypoalphalipoproteinemias)
E: adrenomyodystrophy
F: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
G: 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 'ald'. Answer using one of the provided options. | <Options>: A: aldob deficiencies (aka fructose intolerance)
B: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
C: adrenoleukodystrophy
D: aldolase a deficiency (aka glycogen storage disease xii)
E: 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 'inherited disease'. Answer using one of the provided options. | <Options>: A: hereditary disease (aka genetic diseases, inborn)
B: genetic predisposition to disease
C: diseases
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: deficits, neurologic (aka neurologic manifestations)
B: neurological disorder (aka nervous system diseases)
C: disorder, functional neurological (aka conversion disorder)
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 'adrenal insufficiency'. Answer using one of the provided options. | <Options>: A: hypoadrenalism, primary (aka addison disease)
B: hyperadrenalism (aka adrenocortical hyperfunction)
C: adrenocorticotropic hormone deficiency
D: adrenal unresponsiveness to acth (aka familial glucocorticoid deficiency 1)
E: adrenal gland hypofunction (aka adrenal insufficiency)
F: adrenal insufficiency, congenital
G: 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 'ald'. Answer using one of the provided options. | <Options>: A: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
B: aldolase a deficiency (aka glycogen storage disease xii)
C: aldob deficiency (aka fructose intolerance)
D: adrenoleukodystrophy, x-linked (aka adrenoleukodystrophy)
E: 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: perinatal sudanophilic leukodystrophy (aka pelizaeus-merzbacher-like disease, autosomal recessive, 2)
B: aldolase a deficiency (aka glycogen storage disease xii)
C: human dihydroxyacetonephosphate acyltransferase deficiency (aka rhizomelic chondrodysplasia punctata, type 2)
D: alcohol related neurodevelopmental disorder (aka fetal alcohol spectrum disorders)
E: progressive neuronal degeneration of childhood with liver disease (aka diffuse cerebral sclerosis of schilder)
F: saturine encephalopathy, childhood (aka lead poisoning, nervous system, childhood)
G: neonatal adrenoleukodystrophies (aka peroxisomal disorders)
H: aldob deficiency (aka fructose intolerance)
I: x-ald (x-linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
J: None of the above. | I |
<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: mental deteriorations (aka cognitive dysfunction)
C: clinical deterioration
D: None of the above. | D |
<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: aldob deficiencies (aka fructose intolerance)
B: aldoa deficiency (aka glycogen storage disease xii)
C: alexander disease
D: ald (aka adrenoleukodystrophy)
E: alexanders leukodystrophy
F: None of the above. | D |
<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: disorder, functional neurological (aka conversion disorder)
B: neurologic dysfunctions (aka neurologic manifestations)
C: neurological disorder (aka nervous system diseases)
D: None of the above. | B |
<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 cortex (aka adrenal cortex diseases)
B: syndromes, adrenogenital (aka adrenogenital syndrome)
C: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
D: primary adrenocortical insufficiencies (aka addison disease)
E: adrenomyodystrophy
F: adrenoleukodystrophies, neonatal (aka peroxisomal disorders)
G: x linked adrenoleukodystrophy (aka adrenoleukodystrophy)
H: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
I: None of the above. | G |
<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: hypercortisolism, pituitary-dependant (aka pituitary acth hypersecretion)
B: addison disease and cerebral sclerosis (aka adrenoleukodystrophy)
C: familial x linked addison disease (aka hypoadrenocorticism, familial)
D: hyperadrenocorticism (aka adrenocortical hyperfunction)
E: addison disease, congenital (aka adrenocortical hypofunction, chronic primary congenital)
F: adrenal insufficiencies (aka adrenal insufficiency)
G: addison's disease (aka addison disease)
H: None of the above. | G |
<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 to 'ald'. Answer using one of the provided options. | <Options>: A: aldolase a deficiency (aka glycogen storage disease xii)
B: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
C: x-linked adrenoleukodystrophy (aka adrenoleukodystrophy)
D: aldolase b deficiencies (aka fructose intolerance)
E: 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: human dihydroxyacetonephosphate acyltransferase deficiency (aka rhizomelic chondrodysplasia punctata, type 2)
B: alcohol related neurodevelopmental disorder (aka fetal alcohol spectrum disorders)
C: saturine encephalopathy, childhood (aka lead poisoning, nervous system, childhood)
D: aldoa deficiency (aka glycogen storage disease xii)
E: neuronal degeneration of childhood with liver disease, progressive (aka diffuse cerebral sclerosis of schilder)
F: perinatal sudanophilic leukodystrophy (aka pelizaeus-merzbacher-like disease, autosomal recessive, 2)
G: neonatal adrenoleukodystrophy (aka peroxisomal disorders)
H: aldolase b deficiency (aka fructose intolerance)
I: x-ald (x-linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
J: None of the above. | I |
<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: ald (aka adrenoleukodystrophy)
B: aldolase a deficiency (aka glycogen storage disease xii)
C: alexander's disease (aka alexander disease)
D: alexanders leukodystrophy
E: deficiency, aldolase b (aka fructose intolerance)
F: None of the above. | A |
<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: adrenomyodystrophy
B: adrenoleukodystrophy
C: neonatal adrenoleukodystrophies (aka peroxisomal disorders)
D: disease, adrenal cortex (aka adrenal cortex diseases)
E: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
F: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
G: primary adrenocortical insufficiencies (aka addison disease)
H: syndromes, adrenogenital (aka adrenogenital syndrome)
I: None of the above. | B |
<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 fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes.', select the correct biomedical concept corresponding to 'ald'. Answer using one of the provided options. | <Options>: A: x-ald (x-linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
B: deficiency, aldolase b (aka fructose intolerance)
C: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
D: aldolase a deficiency (aka glycogen storage disease xii)
E: 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: alexander disease
B: alexanders leukodystrophy
C: x ald (aka adrenoleukodystrophy)
D: aldolase deficiency, red cell (aka glycogen storage disease xii)
E: deficiencies, aldob (aka fructose intolerance)
F: None of the above. | C |
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