instruction stringlengths 144 856 | input stringlengths 33 1.06k | response stringclasses 11
values |
|---|---|---|
<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: dermatosis (aka skin diseases)
C: tumor (aka neoplasms)
D: adnexal and skin appendage neoplasms (aka neoplasms, adnexal and skin appendage)
E: 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: tumor (aka neoplasms)
B: tumorigenesis (aka carcinogenesis)
C: carcinoma
D: 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 bio... | <Options>: A: colon cancer (aka colorectal neoplasms)
B: cancers, colonic (aka colonic neoplasms)
C: 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 bio... | <Options>: A: polyposis coli, 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 bio... | <Options>: A: adenomatous polyposis coli, attenuated
B: polyposis, familial adenomatous (aka adenomatous polyposis coli)
C: colorectal adenomatous polyposis, autosomal recessive
D: 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: tumor (aka neoplasms)
B: epithelial neoplasms (aka neoplasms, glandular and epithelial)
C: neoplasms, skin (aka skin neoplasms)
D: dermatosis (aka skin diseases)
E: None of the above. | C |
<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: keratoacanthoma familial
B: keratoacanthomas (aka keratoacanthoma)
C: keratosis pilaris (aka burnett schwartz berberian syndrome)
D: benign pilomatricoma (aka pilomatrixoma)
E: pilar sheath acanthoma (aka acanthoma)
F: cyst, pilar (aka epidermal cyst)
G: folliculosebaceous cystic hamartoma (aka trichofoll... | D |
<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 co... | <Options>: A: keratoacanthoma familial
B: hamartoma
C: keratoacanthoma
D: pilomatricoma, benign (aka pilomatrixoma)
E: keratosis pilaris (aka burnett schwartz berberian syndrome)
F: folliculosebaceous cystic hamartoma (aka trichofolliculoma)
G: pilar sheath acanthoma (aka acanthoma)
H: pilar cyst (aka epidermal cyst)
I... | D |
<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: tumors (aka neoplasms)
B: adnexal and skin appendage neoplasms (aka neoplasms, adnexal and skin appendage)
C: epithelial neoplasms (aka neoplasms, glandular and epithelial)
D: neoplasm, skin (aka skin neoplasms)
E: skin disease (aka skin diseases)
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: neoplasms by sites (aka neoplasms by site)
B: tumorigenesis (aka carcinogenesis)
C: neoplastic processes
D: cancer (aka neoplasms)
E: 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: folliculosebaceous cystic hamartoma (aka trichofolliculoma)
B: acanthomas, pilar sheath (aka acanthoma)
C: keratoacanthoma familial
D: keratoacanthomas (aka keratoacanthoma)
E: cyst, pilar (aka epidermal cyst)
F: pilomatricoma, benign (aka pilomatrixoma)
G: hamartoma
H: keratosis pilaris (aka burnett schw... | F |
<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: sites, neoplasm (aka neoplasms by site)
B: malignant neoplasms (aka neoplasms)
C: neoplastic processes
D: tumorigenesis (aka carcinogenesis)
E: None of the above. | B |
<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'. Ans... | <Options>: A: neoplasm (aka neoplasms)
B: tumorigenesis (aka carcinogenesis)
C: neoplastic processes
D: sites, neoplasm (aka neoplasms by site)
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 'hemochromat... | <Options>: A: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
B: primary hemochromatosis (aka hemochromatosis)
C: hemochromatosis, type 3
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 'hemochromat... | <Options>: A: hfe1 (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 '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 ... | <Options>: A: hemochromatosis, type 4
B: hemochromatosis, type 3
C: genetic hemochromatoses (aka hemochromatosis)
D: african hemochromatosis
E: hemochromatosis, type 2
F: 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 'HH'. Answer... | <Options>: A: hhh syndrome
B: hht (aka telangiectasia, hereditary hemorrhagic)
C: hh (aka hemochromatosis)
D: ihh (aka idiopathic hypogonadotropic hypogonadism)
E: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
F: hhs, included (aka dyskeratosis congenita)
G: hh12 (aka eunuchoidism, familia... | 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 'autosomal r... | <Options>: A: orphan diseases (aka rare diseases)
B: genetic disorder (aka genetic diseases, inborn)
C: autosomal dominant (aka multiple pterygium syndrome, autosomal dominant)
D: genetic non-disjunctions (aka nondisjunction, genetic)
E: None of the above. | B |
<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: hh7 (aka idiopathic hypogonadotropic hypogonadism)
B: hhhh syndrome
C: hhs, included (aka dyskeratosis congenita)
D: hh12 (aka eunuchoidism, familial hypogonadotropic)
E: hh11 (aka hypogonadotropic hypogonadism 11 with or without anosmia)
F: hhhs (aka hhh syndrome)
G: h syndrome (aka histiocytosis with jo... | K |
<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 ... | <Options>: A: h syndrome (aka histiocytosis with joint contractures and sensorineural deafness)
B: hh12 (aka eunuchoidism, familial hypogonadotropic)
C: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
D: hhs, included (aka dyskeratosis congenita)
E: hhhh syndrome
F: hhh (aka hhh syndrome)
G: hh7 (ak... | H |
<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 ... | <Options>: A: hh12 (aka eunuchoidism, familial hypogonadotropic)
B: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
C: hht1 (aka telangiectasia, hereditary hemorrhagic)
D: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
E: hhh syndrome
F: h syndrome (aka histiocytosis wit... | H |
<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 ... | <Options>: A: hemochromatosis, type 2
B: hemochromatosis, type 3
C: hfe (aka hemochromatosis)
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: None of the above. | C |
<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 ... | <Options>: A: hh (aka hemochromatosis)
B: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
C: hht (aka telangiectasia, hereditary hemorrhagic)
D: hh12 (aka eunuchoidism, familial hypogonadotropic)
E: hhhh syndrome
F: h syndrome (aka histiocytosis with joint contractures and sensorineural deaf... | A |
<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'. An... | <Options>: A: hh12 (aka eunuchoidism, familial hypogonadotropic)
B: hhh (aka hhh syndrome)
C: hypocalciuric hypercalcemia, familial, type 1
D: hhrh (aka hypophosphatemic rickets with hypercalciuria, hereditary)
E: hhs, included (aka dyskeratosis congenita)
F: hhhh syndrome
G: ihh (aka idiopathic hypogonadotropic hypogo... | I |
<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'. An... | <Options>: A: hht (aka telangiectasia, hereditary hemorrhagic)
B: hhs, included (aka dyskeratosis congenita)
C: hh (aka hemochromatosis)
D: hh7 (aka idiopathic hypogonadotropic hypogonadism)
E: hyperinsulinemic hypoglycemia, familial, 1 (aka congenital hyperinsulinism)
F: hhc (aka hypocalciuric hypercalcemia, familial,... | 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 'hemochr... | <Options>: A: hemochromatosis, type 3
B: hemochromatosis, type 1 (aka hemochromatosis)
C: hemochromatosis, type 2
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: ovary cancer (aka ovarian neoplasms)
B: cancer, epithelial ovarian (aka carcinoma, ovarian epithelial)
C: 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 'breast cancer'. Answer using one of the provided opt... | <Options>: A: cancer of the breast (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 op... | <Options>: A: ovarian cancers (aka ovarian neoplasms)
B: epithelial ovarian 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: 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: cancer, ovarian epithelial (aka carcinoma, ovarian epithelial)
B: cancers, ovarian (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: cancers, ovary (aka ovarian neoplasms)
B: ovarian epithelial cancer (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: carcinomatoses (aka carcinoma)
B: neoplasms, malignant (aka neoplasms)
C: tumorigenesis (aka carcinogenesis)
D: 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: tumorigenesis (aka carcinogenesis)
B: 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... | <Options>: A: cancer, ovarian (aka ovarian neoplasms)
B: epithelial ovarian 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... | <Options>: A: cancer, ovarian (aka ovarian neoplasms)
B: ovarian epithelial carcinoma (aka carcinoma, ovarian epithelial)
C: None of the above. | A |
<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 conc... | <Options>: A: cancers, ovarian (aka ovarian neoplasms)
B: ovarian epithelial carcinomas (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, hereditary 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 (AP... | <Options>: A: adenomatous polyposis coli, familial (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>: A: cancers, colon (aka colonic neoplasms)
B: colorectal cancer (aka colorectal neoplasms)
C: None of the above. | A |
<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 opti... | <Options>: A: colon cancer (aka colorectal neoplasms)
B: colonic cancers (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: neoplasias (aka neoplasms)
B: oncogenesis (aka carcinogenesis)
C: carcinomas (aka carcinoma)
D: 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: complement component 8b deficiency (aka complement component 8 deficiency, type ii)
B: complement factor i deficiency
C: complement component 5 deficiency
D: cfdd (aka complement factor d deficiency)
E: complement component 9 deficiency (aka c9 deficiency)
F: c7d (aka complement component 7 deficiency)
G:... | F |
<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: hemophilus meningitides (aka meningitis, haemophilus)
B: bacterial meningitides (aka meningitis, bacterial)
C: neisseriaceae infections
D: meningitis, neisseria (aka meningitis, meningococcal)
E: central nervous system bacterial infections
F: infection, meningococcal (aka meningococcal infections)
G: neis... | 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 gono... | <Options>: A: gonorrhea
B: acute disseminated encephalomyelitides (aka encephalomyelitis, acute disseminated)
C: fusariosis, disseminated (aka fusariosis)
D: deep gluteal syndrome (aka hip socket neuropathy)
E: infections, meningococcal (aka meningococcal infections)
F: trichosporonosis, disseminated (aka trichosporono... | 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 'meningococcal men... | <Options>: A: bacterial meningitis (aka meningitis, bacterial)
B: meningitis
C: meningococcal infection (aka meningococcal infections)
D: 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'. Answe... | <Options>: A: arthritis
B: arthritis, rheumatic (aka rheumatic fever)
C: joint disease (aka joint diseases)
D: arthroses (aka osteoarthritis)
E: joint pains (aka arthralgia)
F: reactive arthritis (aka arthritis, reactive)
G: rheumatism (aka rheumatic diseases)
H: None of the above. | A |
<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: chromosome 7, monosomy 7p2 (aka 7p2 monosomy syndrome)
B: monosomy 7 (aka chromosome 7, monosomy)
C: aplasia cutis congenita, nonsyndromic (aka ectodermal dysplasia)
D: c6 deficiency, subtotal, included (aka complement component 6 deficiency)
E: complement component 7 deficiency
F: c6 deficiency, subtotal... | 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... | <Options>: A: c7 deficiency (aka complement component 7 deficiency)
B: deletion 7q3 (aka chromosome 7, monosomy 7q3)
C: monosomy 7 (aka chromosome 7, monosomy)
D: chromosome 7, monosomy 7q2
E: c6 deficiency, subtotal
F: chromosome 7, partial monosomy 7p (aka 7p2 monosomy syndrome)
G: aplasia cutis congenita, nonsyndrom... | A |
<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 usi... | <Options>: A: meningitis, meningococcal, serogroup y (aka meningitis, meningococcal)
B: meningitis, bacterial
C: meningitis
D: septicemia, meningococcal (aka meningococcal infections)
E: None of the above. | A |
<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 p... | <Options>: A: joint pains (aka arthralgia)
B: joint disease (aka joint diseases)
C: osteoarthritis
D: rheumatism (aka rheumatic diseases)
E: rheumatic arthritides (aka rheumatic fever)
F: reactive arthritis (aka arthritis, reactive)
G: arthritides (aka arthritis)
H: None of the above. | G |
<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: complement component 7 deficiency
B: factor vii and factor viii, combined deficiency (aka familial multiple coagulation factor deficiency iv)
C: c9 deficiency
D: c6 deficiency (aka complement component 6 deficiency)
E: deficiencies, factor 7 (aka factor vii deficiency)
F: factor 8 deficiency, congenital (... | 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'. Answ... | <Options>: A: factor vii and factor viii, combined deficiency (aka familial multiple coagulation factor deficiency iv)
B: complement component 7 deficiency
C: factor seven deficiencies (aka factor vii deficiency)
D: c9 deficiency
E: c6 deficiency (aka complement component 6 deficiency)
F: factor 8 deficiency, congenita... | 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... | <Options>: A: bacterial meningitides (aka meningitis, bacterial)
B: hemophilus meningitides (aka meningitis, haemophilus)
C: bacteremia
D: meningococcal septicemia (aka meningococcal infections)
E: neisseria meningitides (aka meningitis, meningococcal)
F: neisseriaceae infections
G: infections, bacterial, central nervo... | F |
<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, blepharospasm-oromandibular (aka meige syndrome)
B: orofacial dyskinesias (aka dyskinesias)
C: 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: dyskinesias, orofacial (aka dyskinesias)
B: blepharospasm-oromandibular dystonia (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: dystonia
B: dystonia disorders (aka dystonic disorders)
C: tardive dystonia (aka tardive dyskinesia)
D: dystonias, torsion (aka dystonia musculorum deformans)
E: None of the above. | A |
<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: disorder, dysthymic (aka dysthymic disorder)
C: cerebral palsy, dystonic rigid (aka cerebral palsy)
D: primary dystonia (aka dystonic disorders)
E: muscle dystonia (aka dystonia)
F: None of the above. | E |
<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, dopa responsive, autosomal recessive (aka segawa syndrome, autosomal recessive)
B: familial dystonia, autosomal dominant (aka dystonic disorders)
C: dyt5 (aka dystonia, dopa-responsive)
D: dystonia-parkinsonism, rapid-onset (aka dystonia 12)
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: african hemochromatosis
C: hemochromatosis, type 2
D: hemochromatosis, type 3
E: familial hemochromatosis (aka hemochromatosis)
F: None of the above. | E |
<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. ... | <Options>: A: autosomal dominant (aka multiple pterygium syndrome, autosomal dominant)
B: autosomal recessive infantile parkinsonism (aka segawa syndrome, autosomal recessive)
C: autosomal recessive parkinsonism (aka parkinsonian disorders)
D: single-gene defect (aka genetic diseases, inborn)
E: orphan disease (aka rar... | 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. ... | <Options>: A: genetic hemochromatosis (aka hemochromatosis)
B: hemochromatosis, type 2
C: hemochromatosis, type 3
D: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
E: african hemochromatosis
F: None of the above. | A |
<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 ... | <Options>: A: hemochromatosis, type 2
B: african hemochromatosis
C: hemochromatosis, autosomal dominant (aka hemochromatosis, type 4)
D: hh (aka hemochromatosis)
E: hemochromatosis, type 5
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 f... | <Options>: A: hereditary autoinflammatory disease (aka hereditary autoinflammatory diseases)
B: fibrosing serositis, familial (aka jacobs syndrome)
C: lymphoma, mediterranean (aka immunoproliferative small intestinal disease)
D: hyperimmunoglobulinemia d and periodic fever syndrome (aka mevalonate kinase deficiency)
E:... | F |
<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 f... | <Options>: A: fhf (aka periodic fever, familial, autosomal dominant)
B: fibrosing serositis, familial (aka jacobs syndrome)
C: lymphoma, mediterranean (aka immunoproliferative small intestinal disease)
D: polyserositis, familial paroxysmal (aka familial mediterranean fever)
E: fever, familial lifelong persistent
F: rei... | 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 f... | <Options>: A: fmfd1 (aka familial multiple coagulation factor deficiency i)
B: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
C: fmfd ii (aka familial multiple coagulation factor deficiency ii)
D: fmf, autosomal dominant (aka familial mediterranean fever)
E: fmfd iv (aka familial multipl... | 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 f... | <Options>: A: autosomal dominant (aka multiple pterygium syndrome, autosomal dominant)
B: disease, hereditary (aka genetic diseases, inborn)
C: rare disease (aka rare diseases)
D: 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 f... | <Options>: A: peritonitis
B: steatitis
C: funisitis (aka chorioamnionitis)
D: inflammatory myopathies (aka myositis)
E: mastitis
F: mucositides (aka mucositis)
G: serositides (aka serositis)
H: lymphadenitis
I: cellulitis
J: seroma
K: None of the above. | G |
<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 f... | <Options>: A: synoviomas (aka sarcoma, synovial)
B: hypertrophy, synovial (aka synovitis)
C: periarthritides (aka periarthritis)
D: rheumatism (aka rheumatic diseases)
E: reactive arthritis (aka arthritis, reactive)
F: tenosynovitis
G: arthritis
H: inflammatory rheumatism (aka rheumatic fever)
I: None of the above. | B |
<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: fammm (aka melanoma, cutaneous malignant)
D: fmfd i (aka factor v and factor viii, combined deficiency of, 1)
E: fmfd ii (aka familial multiple coagulation ... | G |
<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 ... | <Options>: A: fmfd1 (aka factor v and factor viii, combined deficiency of, 1)
B: fmfd i (aka familial multiple coagulation factor deficiency i)
C: fammm (aka melanoma, cutaneous malignant)
D: fmfd iii (aka vitamin k-dependent clotting factors, combined deficiency of, 1)
E: fmfd ii (aka familial multiple coagulation fac... | G |
<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: fmf, autosomal dominant (aka familial mediterranean fever)
B: fmfd ii (aka familial multiple coagulation factor deficiency ii)
C: syndrome, fibromyositis-fibromyalgia (aka fibromyalgia)
D: fmfd1 (aka factor v and factor viii, combined deficiency of, 1)
E: fmfd iii (aka vitamin k-dependent clotting factors... | A |
<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 lymphoproli... | <Options>: A: autoimmune lymphoproliferative syndrome, type ia
B: autoimmune lymphoproliferative syndrome, type iia
C: autoimmune lymphoproliferative syndrome without fas mutations (aka dianzani autoimmune lymphoproliferative syndrome)
D: autoimmune lymphoproliferative syndrome, type v (aka immune dysregulation with au... | E |
<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 lymphoproli... | <Options>: A: autoimmune lymphoproliferative syndrome, type ib
B: autoimmune lymphoproliferative syndrome, type i, autosomal recessive
C: autoimmune lymphoproliferative syndrome without fas mutations (aka dianzani autoimmune lymphoproliferative syndrome)
D: autoimmune lymphoproliferative syndrome, type ii (aka autoimmu... | 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 'ALPS'. Answer using on... | <Options>: A: alpers disease (aka diffuse cerebral sclerosis of schilder)
B: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
C: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
D: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
E: alps (aka autoim... | 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: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
B: alpers' syndrome (aka diffuse cerebral sclerosis of schilder)
C: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
D: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
E: alps2 (aka aut... | G |
<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: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
B: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
C: disease, alpers' (aka diffuse cerebral sclerosis of schilder)
D: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
E: alps2a (aka autoimmune lymphoproliferative syn... | F |
<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 opt... | <Options>: A: alper syndrome (aka diffuse cerebral sclerosis of schilder)
B: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
C: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
D: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
E: alps1b (aka auto... | G |
<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: alps1a (aka autoimmune lymphoproliferative syndrome, type ia)
B: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
C: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
D: alper's disease (aka diffuse cerebral sclerosis of schilder)
E: alps5 (aka immune dysregulation with autoimmuni... | G |
<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: alper disease (aka diffuse cerebral sclerosis of schilder)
B: alps3 (aka autoimmune lymphoproliferative syndrome, type iii)
C: alps1b (aka autoimmune lymphoproliferative syndrome, type ib)
D: alps2 (aka autoimmune lymphoproliferative syndrome, type iia)
E: alps5 (aka immune dysregulation with autoimmunity... | 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: alps5 (aka immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation)
B: alps2a (aka autoimmune lymphoproliferative syndrome, type iia)
C: alps1a, included (aka autoimmune lymphoproliferative syndrome)
D: alper disease (aka diffuse cerebral sclerosis of schilder)
E: alps3 (aka auto... | 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: neonatal adrenoleukodystrophies (aka peroxisomal disorders)
B: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
C: adrenomyodystrophy
D: familial alpha lipoprotein deficiency disease (aka hypoalphalipoproteinemias)
E: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa ox... | F |
<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 th... | <Options>: A: familial alpha lipoprotein deficiency disease (aka hypoalphalipoproteinemias)
B: adrenoleukodystrophy, autosomal neonatal form (aka peroxisomal disorders)
C: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
D: adrenomyodystrophy
E: ald (aka adrenoleukodystrophy)
F: pseudoneonatal a... | 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 'ALD'. Answer using one of the provided options. | <Options>: A: aldoa deficiency (aka glycogen storage disease xii)
B: aldob deficiencies (aka fructose intolerance)
C: adrenoleukodystrophy
D: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
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 o... | <Options>: A: diseases, genetic (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 provi... | <Options>: A: functional neurological disorders (aka conversion disorder)
B: neurologic deficit (aka neurologic manifestations)
C: disorders, neurologic (aka nervous system diseases)
D: 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 provid... | <Options>: A: adrenocorticotropic hormone deficiency
B: adrenal insufficiency, congenital
C: adrenal unresponsiveness to acth (aka familial glucocorticoid deficiency 1)
D: hyperadrenalism (aka adrenocortical hyperfunction)
E: primary hypoadrenalism (aka addison disease)
F: None of the above. | F |
<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: aldoa deficiency (aka glycogen storage disease xii)
C: x-ald (x-linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
D: aldolase b deficiencies (aka fructose intolerance)
E: 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 'childhood cerebral ALD'. Answer using one of the provided options. | <Options>: A: progressive neuronal degeneration of childhood with liver disease (aka diffuse cerebral sclerosis of schilder)
B: saturine encephalopathy, childhood (aka lead poisoning, nervous system, childhood)
C: neonatal adrenoleukodystrophy (aka peroxisomal disorders)
D: human dihydroxyacetonephosphate acyltransfera... | G |
<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: clinical deterioration
B: degenerative neurologic diseases (aka neurodegenerative diseases)
C: mental deteriorations (aka cognitive dysfunction)
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: x ald (x linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
B: aldob deficiencies (aka fructose intolerance)
C: alexanders leukodystrophy
D: alexander disease
E: aldoa deficiency (aka glycogen storage disease xii)
F: None of the above. | A |
<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: functional neurological disorders (aka conversion disorder)
B: disorders, neurologic (aka nervous system diseases)
C: neurologic deficit (aka neurologic manifestations)
D: None of the above. | C |
<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: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
B: primary adrenocortical insufficiencies (aka addison disease)
C: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase deficiency)
D: syndrome, adrenogenital (aka adrenogenital syndrome)
E: diseases, adrenal cortex ... | 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: addison disease and cerebral sclerosis (aka adrenoleukodystrophy)
B: addison disease, x-linked (aka hypoadrenocorticism, familial)
C: addison disease, congenital (aka adrenocortical hypofunction, chronic primary congenital)
D: hyperadrenocorticism (aka adrenocortical hyperfunction)
E: hypercortisolism, pi... | 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 t... | <Options>: A: aldoa deficiency (aka glycogen storage disease xii)
B: x linked adrenoleukodystrophy (aka adrenoleukodystrophy)
C: aldob deficiencies (aka fructose intolerance)
D: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
E: None of the above. | B |
<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: progressive neuronal degeneration of childhood with liver disease (aka diffuse cerebral sclerosis of schilder)
B: aldolase a deficiency (aka glycogen storage disease xii)
C: ald (aka adrenoleukodystrophy)
D: alcohol related neurodevelopmental disorder (aka fetal alcohol spectrum disorders)
E: aldolase b d... | 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 'cerebral ALD'. Answer using one of the provided options. | <Options>: A: aldob deficiencies (aka fructose intolerance)
B: alexanders disease (aka alexander disease)
C: alexanders leukodystrophy
D: aldoa deficiency (aka glycogen storage disease xii)
E: x-ald (x-linked adrenoleukodystrophy) (aka adrenoleukodystrophy)
F: None of the above. | E |
<Instruct>: Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', select the correct biomedical concept corresponding to 'adrenomyeloneuropathy'. Answer using one of the provided options. | <Options>: A: adrenogenital syndrome
B: adrenoleukodystrophy, neonatal (aka peroxisomal disorders)
C: diseases, adrenal cortex (aka adrenal cortex diseases)
D: primary adrenocortical insufficiencies (aka addison disease)
E: adrenomyodystrophy
F: pseudoneonatal adrenoleukodystrophy (aka peroxisomal acyl-coa oxidase defi... | H |
<Instruct>: Given the context 'We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblas... | <Options>: A: deficiency, aldob (aka fructose intolerance)
B: adrenoleukodystrophy
C: aldolase a deficiency (aka glycogen storage disease xii)
D: adrenoleukodystrophy, autosomal neonatal (aka refsum disease, infantile)
E: None of the above. | B |
<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: deficiency, aldob (aka fructose intolerance)
B: aldoa deficiency (aka glycogen storage disease xii)
C: x-ald (aka adrenoleukodystrophy)
D: alexander's disease (aka alexander disease)
E: alexanders leukodystrophy
F: None of the above. | C |
End of preview. Expand in Data Studio
README.md exists but content is empty.
- Downloads last month
- 35