query stringlengths 53 125 | positive listlengths 1 10 | negative listlengths 1 10 | system stringlengths 59 748 |
|---|---|---|---|
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'Plasma high density lipoprotein (HDL) levels are strongly genetically determined and show a general inverse relationship with coronary heart disease (CHD).', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'However, the overall prevalence of definite CHD was 21% in men with mutations and 16% in men without mutations.', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'The relative risk (RR) of CHD was 1. 43 in men with mutations (P <. 05); after adjustment for CHD risk factors, the RR was 1. 55', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'The relative risk (RR) of CHD was 1. 43 in men with mutations (P <. 05); after adjustment for CHD risk factors, the RR was 1. 55', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'Increased CHD in men with mutations was primarily observed for HDL chol 41-60 mg/dl; for HDL chol > 60 mg/dl men with and without mutations had low CHD prevalence.', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'Increased CHD in men with mutations was primarily observed for HDL chol 41-60 mg/dl; for HDL chol > 60 mg/dl men with and without mutations had low CHD prevalence.', answer the user's query. |
What is the biomedical concept corresponding to 'cetp deficiency'? | [
"cholesterol ester transfer protein deficiency"
] | [
"cetp deficiency",
"cholesteryl ester transfer protein deficiency",
"cholesterol ester hydrolase deficiency",
"betalipoprotein deficiency disease",
"cholesterol ester hydrolase deficiency, partial",
"deficiency disease, betalipoprotein",
"disease, betalipoprotein deficiency",
"betalipoprotein deficien... | Given the context 'Thus, genetic CETP deficiency appears to be an independent risk factor for CHD, primarily due to increased CHD prevalence in men with the D442G mutation and HDL cholesterol between 41 and 60 mg/dl.', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'Thus, genetic CETP deficiency appears to be an independent risk factor for CHD, primarily due to increased CHD prevalence in men with the D442G mutation and HDL cholesterol between 41 and 60 mg/dl.', answer the user's query. |
What is the biomedical concept corresponding to 'chd'? | [
"coronary heart disease",
"disease, coronary heart",
"coronary heart diseases",
"heart disease, coronary",
"coronary disease",
"diseases, coronary heart",
"disease, coronary",
"coronary heart disease, susceptibility to, 1",
"heart diseases, coronary",
"coronary diseases"
] | [
"hdca (heart defects, congenital, and other congenital anomalies)",
"coronary artery disease",
"artery disease, coronary",
"coronary artery diseases",
"chded",
"heart defects, congenital, and other congenital anomalies",
"artery diseases, coronary",
"heart disease"
] | Given the context 'Thus, genetic CETP deficiency appears to be an independent risk factor for CHD, primarily due to increased CHD prevalence in men with the D442G mutation and HDL cholesterol between 41 and 60 mg/dl.', answer the user's query. |
What is the biomedical concept corresponding to 'myotonic dystrophy'? | [
"myotonic dystrophy",
"dystrophy, myotonic",
"dm (myotonic dystrophy)",
"myotonic dystrophies",
"dystrophia myotonicas",
"dystrophies, myotonic",
"myotonicas, dystrophia",
"dm1 (myotonic dystrophy)",
"congenital myotonic dystrophy",
"myotonic dystrophy, congenital"
] | [
"myopathy, myotonic",
"myopathies, myotonic",
"myotonic myopathies"
] | Given the context 'Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus.
', answer the user's query. |
What is the biomedical concept corresponding to 'myotonic dystrophy'? | [
"myotonic dystrophy",
"dystrophy, myotonic",
"dm (myotonic dystrophy)",
"myotonic dystrophies",
"dystrophia myotonicas",
"dystrophies, myotonic",
"myotonicas, dystrophia",
"dm1 (myotonic dystrophy)",
"congenital myotonic dystrophy",
"myotonic dystrophy, congenital"
] | [
"myopathy, myotonic",
"myopathies, myotonic",
"myotonic myopathies"
] | Given the context 'Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state.', answer the user's query. |
What is the biomedical concept corresponding to 'dm'? | [
"dm (myotonic dystrophy)"
] | [
"diabetes mellitus",
"insulin-dependent diabetes mellitus",
"non-insulin-dependent diabetes mellitus",
"diabetes mellitus, insulin-dependent, 1, included",
"insulin-dependent diabetes mellitus 1, included",
"diabetes mellitus, non-insulin-dependent",
"diabetes mellitus, insulin-dependent",
"cough",
... | Given the context 'Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state.', answer the user's query. |
What is the biomedical concept corresponding to 'dm'? | [
"dm (myotonic dystrophy)"
] | [
"diabetes mellitus",
"insulin-dependent diabetes mellitus",
"non-insulin-dependent diabetes mellitus",
"diabetes mellitus, insulin-dependent, 1, included",
"insulin-dependent diabetes mellitus 1, included",
"diabetes mellitus, non-insulin-dependent",
"diabetes mellitus, insulin-dependent",
"cough",
... | Given the context 'Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state.', answer the user's query. |
What is the biomedical concept corresponding to 'dm'? | [
"dm (myotonic dystrophy)"
] | [
"diabetes mellitus",
"insulin-dependent diabetes mellitus",
"non-insulin-dependent diabetes mellitus",
"diabetes mellitus, insulin-dependent, 1, included",
"insulin-dependent diabetes mellitus 1, included",
"diabetes mellitus, non-insulin-dependent",
"diabetes mellitus, insulin-dependent",
"cough",
... | Given the context 'In order to test this hypothesis, we have studied samples of single sperm from three individuals heterozygous at the DM locus, each with one allele larger and one allele smaller than 19 CTG repeats.', answer the user's query. |
What is the biomedical concept corresponding to 'dm'? | [
"dm (myotonic dystrophy)"
] | [
"diabetes mellitus",
"insulin-dependent diabetes mellitus",
"non-insulin-dependent diabetes mellitus",
"diabetes mellitus, insulin-dependent, 1, included",
"insulin-dependent diabetes mellitus 1, included",
"diabetes mellitus, non-insulin-dependent",
"diabetes mellitus, insulin-dependent",
"cough",
... | Given the context 'To guard against the possible problem of differential PCR amplification rates based on the lengths of the alleles, the sperm were also typed at another closely linked marker whose allele size was unrelated to the allele size at the DM locus.', answer the user's query. |
What is the biomedical concept corresponding to 'myotonic dystrophy'? | [
"myotonic dystrophy",
"dystrophy, myotonic",
"dm (myotonic dystrophy)",
"myotonic dystrophies",
"dystrophia myotonicas",
"dystrophies, myotonic",
"myotonicas, dystrophia",
"dm1 (myotonic dystrophy)",
"congenital myotonic dystrophy",
"myotonic dystrophy, congenital"
] | [
"myopathy, myotonic",
"myopathies, myotonic",
"myotonic myopathies"
] | Given the context 'This suggests that any greater amount of segregation distortion at the myotonic dystrophy locus must result from events following sperm ejaculation.', answer the user's query. |
What is the biomedical concept corresponding to 'ataxia-telangiectasia'? | [
"ataxia-telangiectasia",
"ataxia telangiectasia",
"ataxia telangiectasia syndrome",
"at (ataxia telangiectasia)",
"syndrome, ataxia telangiectasia",
"at1 (ataxia telangiectasia)",
"ataxia-telangiectasia variant, included"
] | [
"ataxia-telangiectasia-like syndrome",
"ataxia telangiectasia like disorder",
"ataxia-telangiectasia variant",
"ataxia-telangiectasia-like disorder 1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"atld (ataxia telangiectasia like disorder)",
"ataxia-telangiectasia-like disord... | Given the context 'Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype.
', answer the user's query. |
What is the biomedical concept corresponding to 'genetic disorder'? | [
"genetic disorder",
"genetic disorders",
"disorder, genetic",
"disorders, genetic",
"genetic diseases",
"genetic disease",
"disease, genetic",
"diseases, genetic",
"inborn genetic diseases",
"inborn genetic disease"
] | [
"genetic predisposition to disease",
"genetic susceptibility"
] | Given the context 'A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning.', answer the user's query. |
What is the biomedical concept corresponding to 'ataxia-telangiectasia'? | [
"ataxia-telangiectasia",
"ataxia telangiectasia",
"ataxia telangiectasia syndrome",
"at (ataxia telangiectasia)",
"syndrome, ataxia telangiectasia",
"at1 (ataxia telangiectasia)",
"ataxia-telangiectasia variant, included"
] | [
"ataxia-telangiectasia-like syndrome",
"ataxia telangiectasia like disorder",
"ataxia-telangiectasia variant",
"ataxia-telangiectasia-like disorder 1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"atld (ataxia telangiectasia like disorder)",
"ataxia-telangiectasia-like disord... | Given the context 'A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'We describe herein, to our knowledge, for the first time, the cloning of a full-length cDNA for ATM and correction of multiple aspects of the radio-sensitive phenotype of A-T cells by transfection with this cDNA.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'Overexpression of ATM cDNA in A-T cells enhanced the survival of these cells in response to radiation exposure, decreased radiation-induced chromosome aberrations, reduced radio-resistant DNA synthesis, and partially corrected defective cell cycle checkpoints and induction of stress-activated protein... |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'This correction of the defects in A-T cells provides further evidence of the multiplicity of effector functions of the ATM protein and suggests possible approaches to gene therapy..', answer the user's query. |
What is the biomedical concept corresponding to 'tumor'? | [
"tumor",
"tumors",
"neoplasm",
"neoplasms",
"neoplasias",
"neoplasia",
"cancers",
"cancer",
"malignancies",
"neoplasms, malignant"
] | [
"tumorigenesis",
"neoplasms by site",
"neoplasms by sites",
"site, neoplasm",
"sites, neoplasm",
"neoplastic processes",
"neoplasm site",
"neoplasm sites"
] | Given the context 'No correlation between the location of frameshift or nonsense mutations and phenotypic features, including age at diagnosis, the number of tumor foci, and manifestation of nonocular tumors was observed..', answer the user's query. |
What is the biomedical concept corresponding to 'nonocular tumors'? | [
"tumors",
"neoplasm",
"neoplasms"
] | [
"tumors, unknown primary",
"primary tumors, unknown",
"tumor, unknown primary",
"neoplasms, unknown primary",
"unknown primary tumors",
"neoplasm, eye",
"neoplasm, unknown primary",
"neural crest-derived tumors",
"primary neoplasms, unknown",
"unknown primary neoplasms"
] | Given the context 'No correlation between the location of frameshift or nonsense mutations and phenotypic features, including age at diagnosis, the number of tumor foci, and manifestation of nonocular tumors was observed..', answer the user's query. |
What is the biomedical concept corresponding to 'wiskott-aldrich syndrome'? | [
"wiskott-aldrich syndrome",
"wiskott aldrich syndrome",
"was (wiskott-aldrich syndrome)",
"imd2 (wiskott-aldrich syndrome)",
"wiskott-aldrich syndrome 1",
"aldrich syndrome",
"was1 (wiskott-aldrich syndrome)",
"wiskott-aldrich syndrome 2",
"was2 (wiskott-aldrich syndrome)",
"wiskott syndromes"
] | [
"wiskott-aldrich syndrome, autosomal dominant form",
"wissler syndrome",
"wissler's syndrome",
"syndrome, wissler's",
"syndrome, wissler-fanconi",
"wissler-fanconi syndrome",
"syndrome, hand-schüller-christian"
] | Given the context 'Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.
', answer the user's query. |
What is the biomedical concept corresponding to 'wiskott-aldrich syndrome'? | [
"wiskott-aldrich syndrome",
"wiskott aldrich syndrome",
"was (wiskott-aldrich syndrome)",
"imd2 (wiskott-aldrich syndrome)",
"wiskott-aldrich syndrome 1",
"aldrich syndrome",
"was1 (wiskott-aldrich syndrome)",
"wiskott-aldrich syndrome 2",
"was2 (wiskott-aldrich syndrome)",
"wiskott syndromes"
] | [
"wiskott-aldrich syndrome, autosomal dominant form",
"wissler syndrome",
"wissler's syndrome",
"syndrome, wissler's",
"syndrome, wissler-fanconi",
"wissler-fanconi syndrome",
"syndrome, hand-schüller-christian"
] | Given the context 'We have identified WASP, the protein that is defective in Wiskott-Aldrich syndrome (WAS), as a novel effector for CDC42Hs, but not for the other Rho family members, Rac and Rho.', answer the user's query. |
What is the biomedical concept corresponding to 'was'? | [
"was1 (wiskott-aldrich syndrome)",
"was (wiskott-aldrich syndrome)",
"was2 (wiskott-aldrich syndrome)",
"wiskott-aldrich syndrome 1",
"wiskott syndrome",
"wiskott syndromes",
"wiskott aldrich syndrome",
"wiskott-aldrich syndrome 2",
"wiskott-aldrich syndrome"
] | [
"wiskott-aldrich syndrome, autosomal dominant form",
"csws, included",
"isscw",
"wissler syndrome",
"protein wis, human",
"cswss, included",
"wilms tumor, susceptibility to",
"warbm",
"wissler's syndrome",
"wss (weaver syndrome)"
] | Given the context 'We have identified WASP, the protein that is defective in Wiskott-Aldrich syndrome (WAS), as a novel effector for CDC42Hs, but not for the other Rho family members, Rac and Rho.', answer the user's query. |
What is the biomedical concept corresponding to 'was'? | [
"was1 (wiskott-aldrich syndrome)",
"was (wiskott-aldrich syndrome)",
"was2 (wiskott-aldrich syndrome)",
"wiskott-aldrich syndrome 1",
"wiskott syndrome",
"wiskott syndromes",
"wiskott aldrich syndrome",
"wiskott-aldrich syndrome 2",
"wiskott-aldrich syndrome"
] | [
"wiskott-aldrich syndrome, autosomal dominant form",
"csws, included",
"isscw",
"wissler syndrome",
"protein wis, human",
"cswss, included",
"wilms tumor, susceptibility to",
"warbm",
"wissler's syndrome",
"wss (weaver syndrome)"
] | Given the context 'Thus, WASP provides a novel link between CDC42Hs and the actin cytoskeleton, which suggests a molecular mechanism for many of the cellular abnormalities in WAS.', answer the user's query. |
What is the biomedical concept corresponding to 'krabbe disease'? | [
"krabbe disease",
"krabbes disease",
"krabbe's disease",
"leukodystrophy, krabbe's",
"leukodystrophy, krabbe",
"krabbe's leukodystrophy",
"krabbe leukodystrophy",
"krabbes leukodystrophy",
"globoid cell leukodystrophy",
"globoid leukodystrophy"
] | [
"kraepelin disease",
"krause-kivlin syndrome",
"krabbe disease, atypical, due to saposin a deficiency",
"dlb (lewy body disease)",
"lewy body disease",
"neuroaxonal leukodystrophy"
] | Given the context 'Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
', answer the user's query. |
What is the biomedical concept corresponding to 'krabbe disease'? | [
"krabbe disease",
"krabbes disease",
"krabbe's disease",
"leukodystrophy, krabbe's",
"leukodystrophy, krabbe",
"krabbe's leukodystrophy",
"krabbe leukodystrophy",
"krabbes leukodystrophy",
"globoid cell leukodystrophy",
"globoid leukodystrophy"
] | [
"kraepelin disease",
"krause-kivlin syndrome",
"krabbe disease, atypical, due to saposin a deficiency",
"dlb (lewy body disease)",
"lewy body disease",
"neuroaxonal leukodystrophy"
] | Given the context 'We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of... |
What is the biomedical concept corresponding to 'spastic paraplegia'? | [
"spastic paraplegia",
"spastic paraplegias",
"paraplegia, spastic",
"paraplegias, spastic"
] | [
"spastic paraparesis",
"spastic parapareses",
"paraparesis, spastic",
"parapareses, spastic",
"quadriplegias, spastic",
"paraplegia, hereditary spastic",
"hereditary spastic paraplegia",
"quadriplegia, spastic",
"paraplegias, hereditary spastic",
"hereditary spastic paraplegias"
] | Given the context 'We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of... |
What is the biomedical concept corresponding to 'gld'? | [
"gld (leukodystrophy, globoid cell)",
"gcl (leukodystrophy, globoid cell)",
"leukodystrophy, globoid cell, early-onset"
] | [
"glh syndrome",
"glutamate-aspartate transport defect",
"glutamate and aspartate transport defect",
"gdd (gnathodiaphyseal dysplasia)",
"gpsc (hereditary diffuse leukoencephalopathy with spheroids)",
"deficiency, glb1",
"leukoencephalopathy, hereditary diffuse, with spheroids 1",
"gridhh",
"leukoenc... | Given the context 'This difference in mutation sites may affect the clinical features of GLD.', answer the user's query. |
What is the biomedical concept corresponding to 'inherited breast and ovarian cancer'? | [
"hereditary breast and ovarian cancer syndrome",
"hboc syndromes",
"hboc syndrome",
"syndromes, hboc",
"syndrome, hboc"
] | [
"breast cancer, familial",
"breast-ovarian cancer, familial, susceptibility to, 1",
"breast cancer, familial male",
"breast cancer, familial breast cancer, familial male, included",
"ovarian cancer, familial, susceptibility to, 1, included",
"hereditary cancer syndrome",
"hereditary cancer syndromes",
... | Given the context 'Germline mutations in BRCA1 are responsible for most cases of inherited breast and ovarian cancer .', answer the user's query. |
What is the biomedical concept corresponding to 'tumour'? | [
"tumor",
"tumors",
"neoplasm",
"neoplasms",
"neoplasias",
"neoplasia",
"cancers",
"cancer",
"malignancies",
"neoplasms, malignant"
] | [
"neoplasms by site",
"tumorigenesis",
"neoplasms by sites",
"site, neoplasm",
"sites, neoplasm",
"neoplastic processes",
"neoplasm site",
"neoplasm sites"
] | Given the context 'As a regulated secretory protein, BRCA1 appears to function by a mechanism not previously described for tumour suppressor gene products..', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'In the Japanese population, however, there has been no report demonstrating the contribution of IDDM2 to the pathogenesis of IDDM.', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'We conducted an association study of IDDM in a large number of Japanese subjects with multiple polymorphisms in INS region.', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'We found a significant association of the INS region with IDDM.', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'Alleles positively associated with IDDM in INS region were the same as those positively-associated with IDDM in Caucasian population, although positively-associated alleles are very common (allele frequencies > 0. 9) in the Japanese general population.', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'Alleles positively associated with IDDM in INS region were the same as those positively-associated with IDDM in Caucasian population, although positively-associated alleles are very common (allele frequencies > 0. 9) in the Japanese general population.', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'These data suggest that IDDM2 is involved in the genetic susceptibility to IDDM in Japanese.', answer the user's query. |
What is the biomedical concept corresponding to 'iddm'? | [
"iddm (diabetes mellitus, type 1)",
"insulin-dependent diabetes mellitus 1",
"insulin-dependent diabetes mellitus",
"insulin dependent diabetes mellitus 1",
"diabetes mellitus, insulin-dependent, 1",
"iddm1, included"
] | [
"iddm2",
"maturity-onset diabetes mellitus",
"iddmx",
"diabetes mellitus, maturity onset",
"insulin-dependent diabetes mellitus 2",
"diabetes mellitus, maturity-onset",
"maturity onset diabetes mellitus",
"diabetes mellitus, type ii, autosomal dominant",
"maturity-onset diabetes",
"diabetes mellit... | Given the context 'The high frequencies of disease-associated alleles in the general population suggest that IDDM2 locus is not responsible for the low incidence of IDDM in Japanese.', answer the user's query. |
What is the biomedical concept corresponding to 'anxiety-related traits'? | [
"anxiety disorder",
"anxiety disorders",
"disorder, anxiety",
"disorders, anxiety",
"anxiety",
"neurotic anxiety states",
"states, neurotic anxiety",
"neuroses, anxiety",
"anxiety neuroses",
"state, neurotic anxiety"
] | [
"disorder, general anxiety",
"disorders, general anxiety",
"anxiety disorder, general",
"anxiety disorders, general",
"general anxiety disorders",
"general anxiety disorder",
"generalized anxiety"
] | Given the context 'Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region.
', answer the user's query. |
What is the biomedical concept corresponding to 'anxiety'? | [
"anxiety",
"disorder, anxiety",
"anxiety disorder",
"anxiety disorders",
"disorders, anxiety",
"neuroses, anxiety",
"anxiety neuroses",
"neurotic anxiety states",
"neurotic anxiety state",
"states, neurotic anxiety"
] | [
"disorder, general anxiety",
"disorders, general anxiety",
"general anxiety disorder",
"anxiety disorder, general",
"anxiety disorders, general",
"general anxiety disorders",
"generalized anxieties",
"generalized anxiety"
] | Given the context 'Transporter-facilitated uptake of serotonin (5-hydroxytryptamine or 5-HT) has been implicated in anxiety in humans and animal models and is the site of action of widely used uptake-inhibiting antidepressant and antianxiety drugs.', answer the user's query. |
What is the biomedical concept corresponding to 'anxiety-related personality traits'? | [
"anxiety disorder",
"anxiety disorders",
"states, neurotic anxiety",
"neurotic anxiety states",
"disorder, anxiety",
"state, neurotic anxiety",
"disorders, anxiety",
"anxiety neuroses",
"neuroses, anxiety",
"anxiety states, neurotic"
] | [
"disorder, general anxiety",
"disorders, general anxiety",
"general anxiety disorders",
"anxiety disorder, general",
"anxiety disorders, general",
"general anxiety disorder",
"personality disorders",
"personality disorder"
] | Given the context 'Association studies in two independent samples totaling 505 individuals revealed that the 5-HTT polymorphism accounts for 3 to 4 percent of total variation and 7 to 9 percent of inherited variance in anxiety-related personality traits in individuals as well as sibships..', answer the user's query. |
What is the biomedical concept corresponding to 'vlcad deficiency'? | [
"vlcad deficiency",
"very long-chain acyl-coa dehydrogenase deficiency",
"acyl-coa dehydrogenase very long chain deficiency",
"acyl-coa dehydrogenase, very long-chain, deficiency of",
"very long-chain acyl coenzyme a dehydrogenase deficiency",
"very long-chain acyl-coenzyme a dehydrogenase deficiency"
] | [
"long-chain acyl-coa dehydrogenase deficiency",
"acyl-coa dehydrogenase, long-chain, deficiency of",
"acadm deficiency",
"lchad deficiency (long-chain 3-hydroxyacyl-coa dehydrogenase deficiency)",
"acads deficiency",
"long-chain 3-hydroxyacyl-coa dehydrogenase deficiency (lchad deficiency)",
"medium cha... | Given the context 'This agrees well with the fact that cardiac and muscle symptoms are characteristic for patients with VLCAD deficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'vlcad deficiency'? | [
"vlcad deficiency",
"very long-chain acyl-coa dehydrogenase deficiency",
"acyl-coa dehydrogenase very long chain deficiency",
"acyl-coa dehydrogenase, very long-chain, deficiency of",
"very long-chain acyl coenzyme a dehydrogenase deficiency",
"very long-chain acyl-coenzyme a dehydrogenase deficiency"
] | [
"long-chain acyl-coa dehydrogenase deficiency",
"acyl-coa dehydrogenase, long-chain, deficiency of",
"acadm deficiency",
"lchad deficiency (long-chain 3-hydroxyacyl-coa dehydrogenase deficiency)",
"acads deficiency",
"long-chain 3-hydroxyacyl-coa dehydrogenase deficiency (lchad deficiency)",
"medium cha... | Given the context 'Northern blot analysis and sequencing of cloned PCR amplified VLCAD cDNA from four unrelated patients with VLCAD deficiency showed that VLCAD mRNA was undetectable in one patient and that the other three have mutations in both VLCAD alleles.', answer the user's query. |
What is the biomedical concept corresponding to 'complement c7 deficiency'? | [
"c7d (complement component 7 deficiency)",
"c7 deficiency",
"complement component 7 deficiency"
] | [
"deficiency, factor seven",
"factor seven deficiency",
"factor seven deficiencies",
"factor 7 deficiencies",
"factor 7 deficiency",
"deficiency, factor 7",
"deficiencies, factor seven",
"complement component 6 deficiency",
"deficiencies, factor 7",
"c5 deficiency"
] | Given the context 'Genetic bases of human complement C7 deficiency.
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.', answer the user's query. |
What is the biomedical concept corresponding to 'complement c7 deficiency'? | [
"c7d (complement component 7 deficiency)",
"c7 deficiency",
"complement component 7 deficiency"
] | [
"deficiency, factor seven",
"factor seven deficiency",
"factor seven deficiencies",
"factor 7 deficiencies",
"factor 7 deficiency",
"deficiency, factor 7",
"deficiencies, factor seven",
"complement component 6 deficiency",
"deficiencies, factor 7",
"c5 deficiency"
] | Given the context 'Genetic bases of human complement C7 deficiency.
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.', answer the user's query. |
What is the biomedical concept corresponding to 'c7d'? | [
"c7d (complement component 7 deficiency)",
"c7 deficiency",
"complement component 7 deficiency"
] | [
"mvcd7",
"mvcd6",
"cord7",
"f8f9d",
"cild7",
"dermatitis, atopic, 7",
"epvb6d",
"mvcd4",
"mvcd5",
"c9d (c9 deficiency)"
] | Given the context 'Genetic bases of human complement C7 deficiency.
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.', answer the user's query. |
What is the biomedical concept corresponding to 'bacterial infections'? | [
"bacterial infections",
"bacterial infection",
"infections, bacterial",
"infection, bacterial",
"bacterial disease",
"bacterial diseases"
] | [
"zoonoses, bacterial",
"zoonosis, bacterial",
"infections",
"zoonose, bacterial",
"bacterial infections and mycoses",
"infection",
"bacterial zoonose",
"bacterial zoonoses",
"diseases, infectious",
"infectious diseases"
] | Given the context 'Genetic bases of human complement C7 deficiency.
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.', answer the user's query. |
What is the biomedical concept corresponding to 'meningitis'? | [
"meningitis",
"meningitides"
] | [
"bacterial meningitis",
"meningitis, bacterial",
"meningitis-like reaction",
"meningitis-like reactions",
"meningococcal meningitis",
"meningitis, meningococcal",
"viral meningitis",
"meningitis like reaction",
"neisseria meningitis",
"meningitis, aseptic"
] | Given the context 'Genetic bases of human complement C7 deficiency.
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.', answer the user's query. |
What is the biomedical concept corresponding to 'neisseria meningitidis'? | [
"meningococcal infection",
"infection, meningococcal",
"infections, meningococcal",
"meningococcal infections",
"meningococcal diseases",
"meningococcal disease",
"meningococcal septicemia",
"septicemia, meningococcal"
] | [
"neisseria meningitides",
"neisseria meningitis",
"meningitis, neisseria",
"meningitis, meningococcal",
"meningococcal meningitis",
"meningitis, meningococcic",
"bacterial meningitides",
"meningitides, bacterial",
"infection, neisseriaceae",
"neisseria gonorrhoeae infection"
] | Given the context 'Genetic bases of human complement C7 deficiency.
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis.', answer the user's query. |
What is the biomedical concept corresponding to 'c7d'? | [
"c7d (complement component 7 deficiency)",
"c7 deficiency",
"complement component 7 deficiency"
] | [
"mvcd7",
"mvcd6",
"cord7",
"f8f9d",
"cild7",
"dermatitis, atopic, 7",
"epvb6d",
"mvcd4",
"mvcd5",
"c9d (c9 deficiency)"
] | Given the context 'We report in this work the molecular bases of C7D in two unrelated Japanese males.', answer the user's query. |
What is the biomedical concept corresponding to 'c7d'? | [
"c7d (complement component 7 deficiency)",
"c7 deficiency",
"complement component 7 deficiency"
] | [
"mvcd7",
"mvcd6",
"cord7",
"f8f9d",
"cild7",
"dermatitis, atopic, 7",
"epvb6d",
"mvcd4",
"mvcd5",
"c9d (c9 deficiency)"
] | Given the context 'Moreover, we detected a novel polymorphism in intron 11 that presumably is linked to the mutation responsible for C7D in case 1.', answer the user's query. |
What is the biomedical concept corresponding to 'c7d'? | [
"c7d (complement component 7 deficiency)",
"c7 deficiency",
"complement component 7 deficiency"
] | [
"mvcd7",
"mvcd6",
"cord7",
"f8f9d",
"cild7",
"dermatitis, atopic, 7",
"epvb6d",
"mvcd4",
"mvcd5",
"c9d (c9 deficiency)"
] | Given the context 'Our results indicate that the pathogenesis of C7D is heterogeneous like most of the other deficiencies of complement components..', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand'? | [
"von willebrand's disease",
"von willebrand disease",
"von willebrand disorder",
"disorder, von willebrand",
"von willebrand diseases",
"von willebrand's diseases",
"von willebrand's factor deficiency",
"von willebrand disease, recessive form"
] | [
"pseudo-von willebrand disease",
"von willebrand disease, platelet type",
"von willebrand disease, platelet-type",
"von willebrand disease, type i",
"von willebrand disease, type 1",
"platelet-type von willebrand disease",
"von willebrand disease, type iii",
"von willebrand disease, type ii",
"vwd1 ... | Given the context 'Defective dimerization of von Willebrand factor subunits due to a Cys->', answer the user's query. |
What is the biomedical concept corresponding to 'type iid von willebrand disease'? | [
"type iim von willebrand disease",
"type iin von willebrand disease",
"type ii von willebrand disease",
"von willebrand disease, type ii",
"von willebrand disease, type iim",
"type 2 von willebrand disease",
"von willebrand disease, type 2",
"von willebrand disease, type iin",
"type 2m von willebran... | [
"von willebrand disease, recessive form"
] | Given the context 'Arg mutation in type IID von Willebrand disease.
', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand'? | [
"von willebrand's disease",
"von willebrand disease",
"von willebrand disorder",
"disorder, von willebrand",
"von willebrand diseases",
"von willebrand's diseases",
"von willebrand's factor deficiency",
"von willebrand disease, recessive form"
] | [
"pseudo-von willebrand disease",
"von willebrand disease, platelet type",
"von willebrand disease, platelet-type",
"von willebrand disease, type i",
"von willebrand disease, type 1",
"platelet-type von willebrand disease",
"von willebrand disease, type iii",
"von willebrand disease, type ii",
"vwd1 ... | Given the context 'The same heterozygous T - > C transition at nt 8567 of the von Willebrand factor (vWF) transcript was found in two unrelated patients with type IID von Willebrand disease, with no other apparent abnormality.', answer the user's query. |
What is the biomedical concept corresponding to 'type iid von willebrand disease'? | [
"type iim von willebrand disease",
"type iin von willebrand disease",
"type ii von willebrand disease",
"von willebrand disease, type ii",
"von willebrand disease, type iim",
"type 2 von willebrand disease",
"von willebrand disease, type 2",
"von willebrand disease, type iin",
"type 2m von willebran... | [
"von willebrand disease, recessive form"
] | Given the context 'The same heterozygous T - > C transition at nt 8567 of the von Willebrand factor (vWF) transcript was found in two unrelated patients with type IID von Willebrand disease, with no other apparent abnormality.', answer the user's query. |
What is the biomedical concept corresponding to 'type iid von willebrand disease'? | [
"type iim von willebrand disease",
"type iin von willebrand disease",
"type ii von willebrand disease",
"von willebrand disease, type ii",
"von willebrand disease, type iim",
"type 2 von willebrand disease",
"von willebrand disease, type 2",
"von willebrand disease, type iin",
"type 2m von willebran... | [
"von willebrand disease, recessive form"
] | Given the context 'We conclude that CyS2010 is essential for normal dimerization of vWF subunits through disulfide bonding of carboxyl-terminal domains and that a heterozygous mutation in the corresponding codon is responsible for defective multimer formation in type IID von Willebrand disease..', answer the user's que... |
What is the biomedical concept corresponding to 'ataxia-telangiectasia'? | [
"ataxia-telangiectasia",
"ataxia telangiectasia",
"ataxia telangiectasia syndrome",
"at (ataxia telangiectasia)",
"syndrome, ataxia telangiectasia",
"at1 (ataxia telangiectasia)",
"ataxia-telangiectasia variant, included"
] | [
"ataxia-telangiectasia-like syndrome",
"ataxia telangiectasia like disorder",
"ataxia-telangiectasia variant",
"ataxia-telangiectasia-like disorder 1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"atld (ataxia telangiectasia like disorder)",
"ataxia-telangiectasia-like disord... | Given the context 'Ataxia-telangiectasia: founder effect among north African Jews.
', answer the user's query. |
What is the biomedical concept corresponding to 'autosomal recessive disorder'? | [
"hereditary disease",
"disease, hereditary",
"diseases, hereditary",
"hereditary diseases",
"single-gene defect",
"single-gene defects",
"single gene defects",
"genetic disorder",
"defect, single-gene",
"defects, single-gene"
] | [
"autosomal dominant",
"orphan diseases",
"orphan disease",
"autosomal chromosome disorders",
"chromosome disorder, autosomal",
"disease, orphan",
"autosomal chromosome disorder",
"chromosome disorders, autosomal"
] | Given the context 'The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.', answer the user's query. |
What is the biomedical concept corresponding to 'ataxia-telangiectasia'? | [
"ataxia-telangiectasia",
"ataxia telangiectasia",
"ataxia telangiectasia syndrome",
"at (ataxia telangiectasia)",
"syndrome, ataxia telangiectasia",
"at1 (ataxia telangiectasia)",
"ataxia-telangiectasia variant, included"
] | [
"ataxia-telangiectasia-like syndrome",
"ataxia telangiectasia like disorder",
"ataxia-telangiectasia variant",
"ataxia-telangiectasia-like disorder 1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"atld (ataxia telangiectasia like disorder)",
"ataxia-telangiectasia-like disord... | Given the context 'The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.', answer the user's query. |
What is the biomedical concept corresponding to 'cerebellar degeneration'? | [
"degeneration, primary cerebellar",
"primary cerebellar degenerations",
"primary cerebellar degeneration",
"spino cerebellar degenerations",
"spino cerebellar degeneration",
"spino-cerebellar degeneration",
"degeneration, spino cerebellar",
"degenerations, primary cerebellar",
"spino-cerebellar dege... | [
"disease, cerebellar",
"cerebellar disease",
"cerebellar diseases",
"disease, cerebellum",
"cerebellum disease"
] | Given the context 'The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.', answer the user's query. |
What is the biomedical concept corresponding to 'immunodeficiency'? | [
"immunological deficiency syndrome",
"immunologic deficiency syndrome",
"syndrome, immunological deficiency",
"immunological deficiency syndromes",
"syndrome, immunologic deficiency",
"deficiency syndrome, immunological",
"immunologic deficiency syndromes",
"syndromes, immunological deficiency",
"de... | [
"immunodeficiency, isolated",
"immune deficiency disease",
"inherited immunodeficiency disorder",
"inherited immunodeficiency syndrome",
"immunodeficiency, pure",
"inherited immunodeficiency disorders",
"immunodeficiency disorder, inherited",
"inherited immunodeficiency disease"
] | Given the context 'The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'A-T carriers were reported to be moderately cancer-prone.', answer the user's query. |
What is the biomedical concept corresponding to 'cancer-prone'? | [
"malignancy",
"cancer",
"cancers",
"malignancies",
"neoplasm, malignant",
"neoplasia",
"neoplasms, malignant"
] | [
"predisposing for prostate cancer",
"prostate cancer aggressiveness",
"preneoplastic condition",
"carcinoma, preinvasive",
"preneoplastic conditions",
"preinvasive carcinoma",
"carcinogenesis",
"tumorigenesis",
"condition, preneoplastic",
"oncogenesis"
] | Given the context 'A-T carriers were reported to be moderately cancer-prone.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'A wide variety of A-T mutations, most of which are unique to single families, were identified in various ethnic groups, precluding carrier screening with mutation-specific assays.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'However, a single mutation was observed in 32/33 defective ATM alleles in Jewish A-T families of North African origin, coming from various regions of Morocco and Tunisia.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'This founder effect provides a unique opportunity for population-based screening for A-T carriers in a large Jewish community..', answer the user's query. |
What is the biomedical concept corresponding to 'ataxia-telangiectasia'? | [
"ataxia-telangiectasia",
"ataxia telangiectasia",
"ataxia telangiectasia syndrome",
"at (ataxia telangiectasia)",
"syndrome, ataxia telangiectasia",
"at1 (ataxia telangiectasia)",
"ataxia-telangiectasia variant, included"
] | [
"ataxia-telangiectasia-like syndrome",
"ataxia telangiectasia like disorder",
"ataxia-telangiectasia variant",
"ataxia-telangiectasia-like disorder 1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"atld (ataxia telangiectasia like disorder)",
"ataxia-telangiectasia-like disord... | Given the context 'Mutations associated with variant phenotypes in ataxia-telangiectasia.
', answer the user's query. |
What is the biomedical concept corresponding to 'ataxia-telangiectasia'? | [
"ataxia-telangiectasia",
"ataxia telangiectasia",
"ataxia telangiectasia syndrome",
"at (ataxia telangiectasia)",
"syndrome, ataxia telangiectasia",
"at1 (ataxia telangiectasia)",
"ataxia-telangiectasia variant, included"
] | [
"ataxia-telangiectasia-like syndrome",
"ataxia telangiectasia like disorder",
"ataxia-telangiectasia variant",
"ataxia-telangiectasia-like disorder 1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"atld (ataxia telangiectasia like disorder)",
"ataxia-telangiectasia-like disord... | Given the context 'We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom).', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom).', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom).', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'The second A-T allele has a different mutation in each patient.', answer the user's query. |
What is the biomedical concept corresponding to 'cerebellar ataxia'? | [
"cerebellar ataxia",
"ataxia, cerebellar",
"cerebellar ataxias",
"ataxias, cerebellar",
"cerebellar incoordination",
"incoordination, cerebellar",
"cerebellar incoordinations"
] | [
"ataxia, cerebellar gait",
"cerebellar gait ataxia",
"cerebellar gait ataxias",
"gait ataxia, cerebellar",
"gait ataxias, cerebellar",
"ataxias, cerebellar gait",
"ataxias",
"ataxia",
"motor ataxia",
"motor ataxias"
] | Given the context 'The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'Mutations detected in two of four of these are missense mutations, normally rare in A-T patients.', answer the user's query. |
What is the biomedical concept corresponding to 'a-t'? | [
"ata, included",
"at (ataxia telangiectasia)",
"atd, included",
"ataxia-telangiectasia",
"ataxia telangiectasia",
"at, complementation group d, included",
"ate, included",
"ataxia-telangiectasia variant, included",
"at1 (ataxia telangiectasia)",
"at, complementation group c, included"
] | [
"at/rt, included",
"a1atd",
"ataxia-telangiectasia variant",
"at-v1",
"ataxia-telangiectasia variant 1",
"ataxia telangiectasia variant 1",
"ataxia telangiectasia variant v1"
] | Given the context 'The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder.', answer the user's query. |
What is the biomedical concept corresponding to 'huntington disease'? | [
"huntington disease",
"huntington's disease",
"hd (huntington disease)",
"huntington disease, late-onset",
"late-onset huntington disease",
"huntington disease, late onset",
"huntington chorea",
"late onset huntington disease",
"juvenile huntington disease",
"huntington disease, juvenile"
] | [
"huntington disease-like syndrome",
"huntington-like neurodegenerative disorder, autosomal dominant",
"huntington disease-like syndromes",
"huntington's disease-like syndromes",
"huntington disease-like neurodegenerative disorder, autosomal recessive",
"huntington disease-like 1",
"huntington-like neuro... | Given the context 'Apoptosis has recently been recognized as a mode of cell death in Huntington disease (HD).', answer the user's query. |
What is the biomedical concept corresponding to 'hd'? | [
"hd (huntington disease)",
"huntington's disease",
"huntington disease",
"juvenile huntington disease",
"huntington disease, late-onset",
"late-onset huntington disease"
] | [
"hodgkins lymphoma",
"hodgkin's lymphoma",
"huntington-like neurodegenerative disorder, autosomal dominant",
"hodgkin lymphoma",
"hodgkin's disease",
"lymphoma, hodgkin",
"lymphoma, hodgkin's",
"hodgkins disease",
"disease, hodgkin's",
"huntington-like neurodegenerative disorder 1"
] | Given the context 'Apoptosis has recently been recognized as a mode of cell death in Huntington disease (HD).', answer the user's query. |
What is the biomedical concept corresponding to 'hd'? | [
"hd (huntington disease)",
"huntington's disease",
"huntington disease",
"juvenile huntington disease",
"huntington disease, late-onset",
"late-onset huntington disease"
] | [
"hodgkins lymphoma",
"hodgkin's lymphoma",
"huntington-like neurodegenerative disorder, autosomal dominant",
"hodgkin lymphoma",
"hodgkin's disease",
"lymphoma, hodgkin",
"lymphoma, hodgkin's",
"hodgkins disease",
"disease, hodgkin's",
"huntington-like neurodegenerative disorder 1"
] | Given the context 'Here we show that apoptotic extracts and apopain itself specifically cleave the HD gene product, huntingtin.', answer the user's query. |
What is the biomedical concept corresponding to 'hd'? | [
"hd (huntington disease)",
"huntington's disease",
"huntington disease",
"juvenile huntington disease",
"huntington disease, late-onset",
"late-onset huntington disease"
] | [
"hodgkins lymphoma",
"hodgkin's lymphoma",
"huntington-like neurodegenerative disorder, autosomal dominant",
"hodgkin lymphoma",
"hodgkin's disease",
"lymphoma, hodgkin",
"lymphoma, hodgkin's",
"hodgkins disease",
"disease, hodgkin's",
"huntington-like neurodegenerative disorder 1"
] | Given the context 'Our results show that huntingtin is cleaved by cysteine proteases and suggest that HD might be a disorder of inappropriate apoptosis..', answer the user's query. |
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