query stringlengths 53 125 | positive listlengths 1 10 | negative listlengths 1 10 | system stringlengths 59 748 |
|---|---|---|---|
What is the biomedical concept corresponding to 'fever'? | [
"fever",
"fevers",
"pyrexia",
"pyrexias"
] | [
"convulsions, fever",
"convulsion, fever",
"fever convulsions",
"fever convulsion",
"fit, febrile",
"febrile fit",
"illness, heat",
"show fevers",
"show fever",
"heat illnesses"
] | Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', answer the user's query. |
What is the biomedical concept corresponding to 'arthritis'? | [
"arthritis",
"arthritides"
] | [
"rheumatic arthritis",
"arthritis, rheumatic",
"arthrosis",
"arthropathy",
"rheumatic arthritides",
"rheumatism",
"arthropathies",
"arthroses",
"joint disease",
"rheumatism, inflammatory"
] | Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', answer the user's query. |
What is the biomedical concept corresponding to 'cutaneous vasculitis'? | [
"cutaneous allergic vasculitis",
"vasculitis, cutaneous allergic",
"allergic vasculitis, cutaneous",
"vasculitis, allergic cutaneous",
"allergic cutaneous vasculitis",
"vasculitides, cutaneous allergic",
"cutaneous vasculitis, allergic",
"cutaneous allergic vasculitides",
"allergic vasculitides, cut... | [
"cutaneous vasculitis",
"vasculitis, cutaneous",
"cutaneous vasculitides",
"systemic vasculitis",
"vasculitis",
"vasculitis, systemic",
"vasculitides, systemic",
"systemic vasculitides",
"vasculitides"
] | Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', answer the user's query. |
What is the biomedical concept corresponding to 'chronic meningococcemia'? | [
"meningococcal septicemia",
"septicemia, meningococcal",
"infection, meningococcal",
"meningococcal infection",
"infections, meningococcal",
"meningococcal infections",
"meningococcal disease"
] | [
"meningitis, meningococcic",
"meningococcal meningitis, serogroup c",
"meningitis, meningococcal, serogroup c",
"serogroup c meningococcal meningitis",
"meningococcal meningitis",
"cryptococcal meningitides",
"meningitis, meningococcal",
"meningitides, cryptococcal",
"meningitis, meningococcal, sero... | Given the context 'A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia.', answer the user's query. |
What is the biomedical concept corresponding to 'deficiency of the seventh component of complement'? | [
"complement component 7 deficiency",
"c7d (complement component 7 deficiency)",
"c7 deficiency"
] | [
"deficiency, factor seven",
"deficiencies, factor seven",
"deficiency, factor 7",
"factor seven deficiencies",
"factor seven deficiency",
"deficiencies, factor 7",
"complement component 6 deficiency",
"factor 7 deficiency",
"c5 deficiency",
"factor 7 deficiencies"
] | Given the context 'Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete deficiency of the seventh component of complement.', answer the user's query. |
What is the biomedical concept corresponding to 'deficiency of c7'? | [
"c7 deficiency",
"c7d (complement component 7 deficiency)",
"complement component 7 deficiency"
] | [
"deficiency, factor seven",
"deficiency, factor 7",
"factor 7 deficiencies",
"deficiency, factor vii",
"factor seven deficiencies",
"deficiencies, factor 7",
"deficiencies, factor seven",
"factor seven deficiency",
"factor 7 deficiency",
"deficiencies, factor vii"
] | Given the context 'Study of the patients family spanning four generations showed heterozygous deficiency of C7 in five members.', answer the user's query. |
What is the biomedical concept corresponding to 'chronic neisserial infection'? | [
"infection, neisseriaceae",
"neisseriaceae infection",
"infections, neisseriaceae",
"neisseriaceae infections"
] | [
"neisseria meningitides",
"meningitis, neisseria",
"neisseria meningitis",
"neisseria gonorrhoeae infection",
"bacterial meningitides",
"meningitides, bacterial",
"infection, meningococcal",
"meningococcal infection",
"infections, meningococcal",
"meningococcal infections"
] | Given the context 'Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..', answer the user's query. |
What is the biomedical concept corresponding to 'c7 deficiency'? | [
"c7 deficiency",
"c7d (complement component 7 deficiency)",
"complement component 7 deficiency"
] | [
"factor seven deficiencies",
"deficiency, factor seven",
"factor seven deficiency",
"factor 7 deficiencies",
"factor 7 deficiency",
"deficiency, factor 7",
"deficiencies, factor seven",
"deficiencies, factor 7",
"factor vii deficiency",
"deficiency, factor vii"
] | Given the context 'Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..', answer the user's query. |
What is the biomedical concept corresponding to 'cutaneous vasculitis'? | [
"cutaneous allergic vasculitis",
"vasculitis, cutaneous allergic",
"allergic vasculitis, cutaneous",
"vasculitis, allergic cutaneous",
"allergic cutaneous vasculitis",
"vasculitides, cutaneous allergic",
"cutaneous vasculitis, allergic",
"cutaneous allergic vasculitides",
"allergic vasculitides, cut... | [
"cutaneous vasculitis",
"vasculitis, cutaneous",
"cutaneous vasculitides",
"systemic vasculitis",
"vasculitis",
"vasculitis, systemic",
"vasculitides, systemic",
"systemic vasculitides",
"vasculitides"
] | Given the context 'Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis..', answer the user's query. |
What is the biomedical concept corresponding to 'dihydropyrimidine dehydrogenase deficiency'? | [
"dihydropyrimidine dehydrogenase deficiency",
"deficiency, dihydropyrimidine dehydrogenase",
"dihydropyrimidine dehydrogenase deficiencies",
"dehydrogenase deficiency, dihydropyrimidine",
"deficiencies, dihydropyrimidine dehydrogenase",
"dehydrogenase deficiencies, dihydropyrimidine",
"dihydropyrimidinu... | [
"dihydropyrimidinuria (dihydropyrimidinase deficiency)",
"dihydropyrimidinase deficiency"
] | Given the context 'Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.', ans... |
What is the biomedical concept corresponding to 'dihydropyrimidine dehydrogenase (dpd) deficiency'? | [
"dihydropyrimidine dehydrogenase deficiency",
"deficiency, dihydropyrimidine dehydrogenase",
"dihydropyrimidine dehydrogenase deficiencies",
"deficiencies, dihydropyrimidine dehydrogenase",
"dehydrogenase deficiency, dihydropyrimidine",
"dehydrogenase deficiencies, dihydropyrimidine",
"dihydropyrimidinu... | [
"dihydropyrimidinuria (dihydropyrimidinase deficiency)",
"dihydropyrimidinase deficiency",
"dph deficiency",
"deoxyguanosine kinase deficiency"
] | Given the context 'Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.', ans... |
What is the biomedical concept corresponding to 'autosomal recessive disease'? | [
"hereditary disease",
"disease, hereditary",
"hereditary diseases",
"diseases, hereditary",
"single-gene defect",
"single-gene defects",
"single gene defects",
"genetic disease",
"genetic diseases",
"defect, single-gene"
] | [
"autosomal dominant",
"orphan disease",
"orphan diseases",
"disease, orphan",
"rare disease",
"autosomal recessive parkinsonism",
"rare diseases",
"autosomal recessive infantile parkinsonism",
"albers-schonberg disease, autosomal recessive"
] | Given the context 'Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.', ans... |
What is the biomedical concept corresponding to 'dpd deficiency'? | [
"dpd deficiency",
"deficiency, dpd",
"dpd deficiencies",
"deficiencies, dpd",
"dpyd deficiency",
"dehydrogenase deficiency, dihydropyrimidine",
"deficiency, dihydropyrimidine dehydrogenase",
"dihydropyrimidine dehydrogenase deficiency",
"dpydd",
"dehydrogenase deficiencies, dihydropyrimidine"
] | [
"dph deficiency",
"dpys deficiency",
"dpgm deficiency",
"dihydropyrimidinase deficiency",
"deficiency, qdpr",
"dihydropyrimidinuria (dihydropyrimidinase deficiency)",
"dpysd",
"deficiency, dhpr"
] | Given the context 'In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD.', answer the user's query. |
What is the biomedical concept corresponding to 'deficiency of dpd'? | [
"deficiency, dpd",
"dpd deficiency",
"deficiencies, dpd",
"dpd deficiencies",
"dpyd deficiency",
"deficiency, dihydropyrimidine dehydrogenase",
"dehydrogenase deficiency, dihydropyrimidine",
"dihydropyrimidine dehydrogenase deficiency",
"deficiencies, dihydropyrimidine dehydrogenase",
"dehydrogena... | [
"dph deficiency",
"dpys deficiency",
"dpgm deficiency",
"deficiency, dhpr",
"deficiency, qdpr",
"dihydropyrimidinase deficiency",
"dihydropyrimidinuria (dihydropyrimidinase deficiency)",
"deficiency, gpd"
] | Given the context 'In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD.', answer the user's query. |
What is the biomedical concept corresponding to 'dpd'? | [
"dpydd",
"deficiency, dpd",
"deficiencies, dpd",
"dpd deficiency",
"dpd deficiencies",
"dpyd deficiency",
"dehydrogenase deficiency, dihydropyrimidine",
"dehydrogenase deficiencies, dihydropyrimidine",
"deficiency, dihydropyrimidine dehydrogenase",
"dihydropyrimidine dehydrogenase deficiency"
] | [
"dpysd",
"dph deficiency",
"diaphyseal dysplasia 1, progressive",
"dihydropyrimidinuria (dihydropyrimidinase deficiency)",
"dihydropyrimidinase deficiency",
"dpgm deficiency"
] | Given the context 'Analysis of the prevalence of the various mutations among DPD patients has shown that the G-- >', answer the user's query. |
What is the biomedical concept corresponding to 'convulsive disorders'? | [
"generalized seizure disorder, convulsive"
] | [
"convulsions",
"seizures, convulsive",
"seizure, convulsive",
"convulsion",
"convulsive seizures",
"convulsive seizure",
"seizure disorders",
"seizure disorder",
"seizures",
"non-epileptic convulsions"
] | Given the context 'A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.', answer the user's query. |
What is the biomedical concept corresponding to 'motor retardation'? | [
"motor skills disorder",
"motor skills disorders"
] | [
"psychomotor impairments",
"psychomotor impairment",
"impairments, psychomotor",
"impairment, psychomotor",
"retardation, mental",
"mental retardation",
"muscular weaknesses",
"intellectual disability",
"weaknesses, muscular",
"coordination impairments"
] | Given the context 'A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.', answer the user's query. |
What is the biomedical concept corresponding to 'mental retardation'? | [
"mental retardation",
"retardation, mental",
"disability, intellectual",
"intellectual disability",
"mental deficiencies",
"disabilities, intellectual",
"intellectual disabilities",
"mental deficiency",
"deficiencies, mental",
"retardation, psychosocial mental"
] | [
"mental deterioration"
] | Given the context 'A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations.', answer the user's query. |
What is the biomedical concept corresponding to 'clinical abnormalities'? | [
"pathological conditions, signs and symptoms"
] | [
"pathological condition, anatomical",
"pathological conditions, anatomical",
"deformity",
"anatomical pathological condition",
"anatomical pathological conditions",
"congenital abnormalities",
"abnormalities, congenital",
"deformities",
"congenital abnormality",
"condition, anatomical pathological... | Given the context 'An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'dpd deficiency'? | [
"dpd deficiency",
"deficiency, dpd",
"dpd deficiencies",
"deficiencies, dpd",
"dpyd deficiency",
"dehydrogenase deficiency, dihydropyrimidine",
"deficiency, dihydropyrimidine dehydrogenase",
"dihydropyrimidine dehydrogenase deficiency",
"dpydd",
"dehydrogenase deficiencies, dihydropyrimidine"
] | [
"dph deficiency",
"dpys deficiency",
"dpgm deficiency",
"dihydropyrimidinase deficiency",
"deficiency, qdpr",
"dihydropyrimidinuria (dihydropyrimidinase deficiency)",
"dpysd",
"deficiency, dhpr"
] | Given the context 'An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'glucose-6-phosphate dehydrogenase (g6pd) deficiency'? | [
"deficiency, g6pd",
"g6pd deficiency",
"g6pd deficiencies",
"deficiencies, g6pd",
"deficiency, glucose-6-phosphate dehydrogenase",
"dehydrogenase deficiency, glucose-6-phosphate",
"deficiency of glucose-6-phosphate dehydrogenase",
"glucose 6 phosphate dehydrogenase deficiency",
"deficiency of glucos... | [
"deficiency, glucose-6-phosphatase",
"deficiencies, glucose-6-phosphatase"
] | Given the context 'Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.
', answer the user's query. |
What is the biomedical concept corresponding to 'g6pd deficiency'? | [
"g6pd deficiency",
"deficiency, g6pd",
"g6pd deficiencies",
"deficiencies, g6pd",
"hemolytic anemia due to g6pd deficiency",
"deficiency, glucose-6-phosphate dehydrogenase",
"glucose 6 phosphate dehydrogenase deficiency",
"dehydrogenase deficiency, glucose-6-phosphate",
"deficiency of glucose 6 phos... | [
"anemia, nonspherocytic hemolytic, due to g6pd deficiency",
"deficiency, glucose-6-phosphatase"
] | Given the context 'Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.
', answer the user's query. |
What is the biomedical concept corresponding to 'glucose-6-phosphate dehydrogenase (g6pd) deficiency'? | [
"deficiency, g6pd",
"g6pd deficiency",
"g6pd deficiencies",
"deficiencies, g6pd",
"deficiency, glucose-6-phosphate dehydrogenase",
"dehydrogenase deficiency, glucose-6-phosphate",
"deficiency of glucose-6-phosphate dehydrogenase",
"glucose 6 phosphate dehydrogenase deficiency",
"deficiency of glucos... | [
"deficiency, glucose-6-phosphatase",
"deficiencies, glucose-6-phosphatase"
] | Given the context 'We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan.', answer the user's query. |
What is the biomedical concept corresponding to 'g6pd deficiency'? | [
"g6pd deficiency",
"deficiency, g6pd",
"g6pd deficiencies",
"deficiencies, g6pd",
"hemolytic anemia due to g6pd deficiency",
"deficiency, glucose-6-phosphate dehydrogenase",
"glucose 6 phosphate dehydrogenase deficiency",
"dehydrogenase deficiency, glucose-6-phosphate",
"deficiency of glucose 6 phos... | [
"anemia, nonspherocytic hemolytic, due to g6pd deficiency",
"deficiency, glucose-6-phosphatase"
] | Given the context 'Ninety-four Chinese males with G6PD deficiency were studied.', answer the user's query. |
What is the biomedical concept corresponding to 'g6pd deficiency'? | [
"g6pd deficiency",
"deficiency, g6pd",
"g6pd deficiencies",
"deficiencies, g6pd",
"hemolytic anemia due to g6pd deficiency",
"deficiency, glucose-6-phosphate dehydrogenase",
"glucose 6 phosphate dehydrogenase deficiency",
"dehydrogenase deficiency, glucose-6-phosphate",
"deficiency of glucose 6 phos... | [
"anemia, nonspherocytic hemolytic, due to g6pd deficiency",
"deficiency, glucose-6-phosphatase"
] | Given the context 'These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan.', answer the user's query. |
What is the biomedical concept corresponding to 'homozygous hypobetalipoproteinemia'? | [
"familial hypobetalipoproteinemia",
"hypobetalipoproteinemia"
] | [
"hypobetalipoproteinemia, familial",
"hypobetalipoproteinemia, familial, apolipoprotein b",
"familial dysbetalipoproteinemia",
"hypobetalipoproteinemia, familial, apo b",
"betalipoprotein deficiency disease",
"familial hypoalphalipoproteinemia",
"disease, betalipoprotein deficiency",
"dysbetalipoprote... | Given the context 'Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.
', answer the user's query. |
What is the biomedical concept corresponding to 'abetalipoproproteinemia'? | [
"abetalipoproteinemia",
"deficiency disease, betalipoprotein",
"abl (abetalipoproteinemia)",
"deficiency diseases, betalipoprotein",
"disease, betalipoprotein deficiency",
"diseases, betalipoprotein deficiency",
"betalipoprotein deficiency disease",
"betalipoprotein deficiency diseases"
] | [
"apolipoprotein b deficiency disease",
"dysbetalipoproteinemia",
"broad-betalipoproteinemia",
"familial dysbetalipoproteinemia",
"hyperbetalipoproteinemia",
"abetalipoproteinemia neuropathy",
"hyperbetalipoproteinemias",
"apolipoprotein b deficiency",
"floating-betalipoproteinemia",
"familial hypo... | Given the context 'Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.
', answer the user's query. |
What is the biomedical concept corresponding to 'homozygous hypobetalipoproteinemia'? | [
"familial hypobetalipoproteinemia",
"hypobetalipoproteinemia"
] | [
"hypobetalipoproteinemia, familial",
"hypobetalipoproteinemia, familial, apolipoprotein b",
"familial dysbetalipoproteinemia",
"hypobetalipoproteinemia, familial, apo b",
"betalipoprotein deficiency disease",
"familial hypoalphalipoproteinemia",
"disease, betalipoprotein deficiency",
"dysbetalipoprote... | Given the context 'apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals.', answer the user's query. |
What is the biomedical concept corresponding to 'abetalipoproteinemia'? | [
"abetalipoproteinemia",
"disease, betalipoprotein deficiency",
"deficiency disease, betalipoprotein",
"deficiency diseases, betalipoprotein",
"diseases, betalipoprotein deficiency",
"betalipoprotein deficiency disease",
"abl (abetalipoproteinemia)",
"betalipoprotein deficiency diseases"
] | [
"dysbetalipoproteinemia",
"familial dysbetalipoproteinemia",
"hyperbetalipoproteinemia",
"hyperbetalipoproteinemias",
"dysbetalipoproteinemia, familial",
"broad-betalipoproteinemia",
"familial hypobetalipoproteinemia",
"floating-betalipoproteinemia",
"type ib hyperlipoproteinemia",
"hypobetalipopr... | Given the context 'These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..', answer the user's query. |
What is the biomedical concept corresponding to 'hemochromatosis'? | [
"hemochromatosis",
"haemochromatosis",
"hemochromatosis, genetic",
"hemochromatosis, hereditary",
"hh (hemochromatosis)",
"genetic hemochromatosis",
"hemochromatosis, familial",
"familial hemochromatosis",
"familial hemochromatoses",
"hfe (hemochromatosis)"
] | [
"hemochromatosis, autosomal dominant",
"hemochromatosis, type 2",
"hemochromatosis, type 4",
"hemochromatosis, type 3"
] | Given the context 'A population-based study of the clinical expression of the hemochromatosis gene.
', answer the user's query. |
What is the biomedical concept corresponding to 'hereditary hemochromatosis'? | [
"hemochromatosis, hereditary",
"familial hemochromatosis",
"genetic hemochromatosis",
"hemochromatosis, familial",
"hemochromatosis, genetic",
"haemochromatosis",
"hemochromatosis",
"hh (hemochromatosis)",
"familial hemochromatoses",
"hemochromatosis, type 1"
] | [
"hemochromatosis, autosomal dominant",
"hemochromatosis, type 2",
"african hemochromatosis",
"hemochromatosis, type 3",
"hemochromatosis, type 4"
] | Given the context 'BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.', answer the user's query. |
What is the biomedical concept corresponding to 'hemochromatosis'? | [
"hemochromatosis",
"haemochromatosis",
"hemochromatosis, genetic",
"hemochromatosis, hereditary",
"hh (hemochromatosis)",
"genetic hemochromatosis",
"hemochromatosis, familial",
"familial hemochromatosis",
"familial hemochromatoses",
"hfe (hemochromatosis)"
] | [
"hemochromatosis, autosomal dominant",
"hemochromatosis, type 2",
"hemochromatosis, type 4",
"hemochromatosis, type 3"
] | Given the context 'BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.', answer the user's query. |
What is the biomedical concept corresponding to 'excess iron deposits'? | [
"iron overload",
"overload, iron"
] | [
"sideroses",
"siderosis",
"storage disorders, iron",
"storage disorder, iron",
"iron storage disorders",
"disorders, iron storage",
"iron storage disorder",
"disorder, iron storage",
"iron overload in africa",
"african iron overload"
] | Given the context 'BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.', answer the user's query. |
What is the biomedical concept corresponding to 'hemochromatosis'? | [
"hemochromatosis",
"haemochromatosis",
"hemochromatosis, genetic",
"hemochromatosis, hereditary",
"hh (hemochromatosis)",
"genetic hemochromatosis",
"hemochromatosis, familial",
"familial hemochromatosis",
"familial hemochromatoses",
"hfe (hemochromatosis)"
] | [
"hemochromatosis, autosomal dominant",
"hemochromatosis, type 2",
"hemochromatosis, type 4",
"hemochromatosis, type 3"
] | Given the context 'Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not.', answer the user's query. |
What is the biomedical concept corresponding to 'hepatic fibrosis'? | [
"liver fibrosis",
"fibrosis, liver",
"cirrhosis, hepatic",
"hepatic cirrhosis",
"cirrhosis, liver",
"liver cirrhosis"
] | [
"congenital hepatic fibrosis",
"hepatic fibrosis, congenital",
"congenital fibrose liver",
"cirrhosis, familial",
"noncirrhotic portal fibrosis",
"noncirrhotic portal fibroses",
"cirrhosis",
"portal fibrosis, noncirrhotic",
"fibrosis, noncirrhotic portal",
"fibrosis"
] | Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', answer the user's query. |
What is the biomedical concept corresponding to 'excessive alcohol consumption'? | [
"alcoholic intoxication",
"intoxication, alcoholic",
"drunkenness"
] | [
"ethanol abuse",
"alcohol abuse",
"abuse, alcohol",
"binge alcohol consumption",
"alcohol consumption, binge",
"abuse, ethanol",
"binge drinking",
"alcohol addiction",
"alcoholism",
"drinking, binge"
] | Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', answer the user's query. |
What is the biomedical concept corresponding to 'cirrhosis'? | [
"cirrhosis, liver",
"liver cirrhosis",
"hepatic cirrhosis",
"cirrhosis, hepatic",
"liver fibrosis",
"fibrosis, liver"
] | [
"cirrhosis",
"cirrhosis, familial",
"cirrhosis, bronzed",
"bronzed cirrhosis",
"cirrhosis, cryptogenic",
"cirrhosis, cryptogenic, included",
"cirrhosis, biliary",
"biliary cirrhosis",
"cirrhosis, noncryptogenic, susceptibility to, included",
"liver cirrhosis, biliary"
] | Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', answer the user's query. |
What is the biomedical concept corresponding to 'microvesicular steatosis'? | [
"visceral steatosis",
"steatosis, liver",
"liver steatosis",
"steatosis, visceral",
"steatosis of liver (fatty liver)",
"liver, fatty",
"fatty liver",
"liver steatoses",
"visceral steatoses",
"steatoses, visceral"
] | [
"steatosis of liver (visceral steatosis, congenital)",
"visceral steatosis, congenital",
"lipid storage myopathy",
"fatal neonatal hepatic steatosis",
"lipidosis",
"lipoid proteinosis",
"steatitides"
] | Given the context 'Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.', answer the user's query. |
What is the biomedical concept corresponding to 'hereditary hemochromatosis'? | [
"hemochromatosis, hereditary",
"familial hemochromatosis",
"genetic hemochromatosis",
"hemochromatosis, familial",
"hemochromatosis, genetic",
"haemochromatosis",
"hemochromatosis",
"hh (hemochromatosis)",
"familial hemochromatoses",
"hemochromatosis, type 1"
] | [
"hemochromatosis, autosomal dominant",
"hemochromatosis, type 2",
"african hemochromatosis",
"hemochromatosis, type 3",
"hemochromatosis, type 4"
] | Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', answer the user's query. |
What is the biomedical concept corresponding to 'hepatomegaly'? | [
"hepatomegaly",
"enlarged liver",
"liver, enlarged"
] | [
"peliosis hepatis",
"hepatis, peliosis",
"splenomegaly",
"hepatitides",
"macrostomias",
"macrostomia",
"enlarged spleen",
"steatoses, liver",
"heart enlargement",
"spleen, enlarged"
] | Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', answer the user's query. |
What is the biomedical concept corresponding to 'skin pigmentation'? | [
"disorder, pigmentation",
"pigmentation disorder",
"disorders, pigmentation",
"pigmentation disorders"
] | [
"skin abnormality",
"skin abnormalities",
"melanoses",
"abnormality, skin",
"abnormalities, skin",
"dermatoses",
"melanosis",
"hyperpigmentation",
"dermatosis",
"nevi, pigmented"
] | Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', answer the user's query. |
What is the biomedical concept corresponding to 'arthritis'? | [
"arthritis",
"arthritides"
] | [
"rheumatic arthritis",
"arthritis, rheumatic",
"arthrosis",
"arthropathy",
"rheumatic arthritides",
"rheumatism",
"arthropathies",
"arthroses",
"joint disease",
"rheumatism, inflammatory"
] | Given the context 'Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.', answer the user's query. |
What is the biomedical concept corresponding to 'hemochromatosis'? | [
"hemochromatosis",
"haemochromatosis",
"hemochromatosis, genetic",
"hemochromatosis, hereditary",
"hh (hemochromatosis)",
"genetic hemochromatosis",
"hemochromatosis, familial",
"familial hemochromatosis",
"familial hemochromatoses",
"hfe (hemochromatosis)"
] | [
"hemochromatosis, autosomal dominant",
"hemochromatosis, type 2",
"hemochromatosis, type 4",
"hemochromatosis, type 3"
] | Given the context 'However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period.', answer the user's query. |
What is the biomedical concept corresponding to 'pelizaeus-merzbacher disease'? | [
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease",
"pmd (pelizaeus-merzbacher disease)",
"classic pelizaeus-merzbacher disease",
"classic pelizaeus merzbacher disease",
"pelizaeus-merzbacher disease, classic",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosom... | [
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type"
] | Given the context 'Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene.', answer the... |
What is the biomedical concept corresponding to 'pelizaeus-merzbacher disease'? | [
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease",
"pmd (pelizaeus-merzbacher disease)",
"classic pelizaeus-merzbacher disease",
"classic pelizaeus merzbacher disease",
"pelizaeus-merzbacher disease, classic",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosom... | [
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type"
] | Given the context 'Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene.', answer the... |
What is the biomedical concept corresponding to 'pelizaeus-merzbacher disease'? | [
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease",
"pmd (pelizaeus-merzbacher disease)",
"classic pelizaeus-merzbacher disease",
"classic pelizaeus merzbacher disease",
"pelizaeus-merzbacher disease, classic",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosom... | [
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type"
] | Given the context 'Only 25% of patients studied with Pelizaeus-Merzbacher disease have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown.', answer the user's query. |
What is the biomedical concept corresponding to 'pelizaeus-merzbacher disease'? | [
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease",
"pmd (pelizaeus-merzbacher disease)",
"classic pelizaeus-merzbacher disease",
"classic pelizaeus merzbacher disease",
"pelizaeus-merzbacher disease, classic",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosom... | [
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type"
] | Given the context 'We studied cultured skin fibroblasts from 2 brothers with Pelizaeus-Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene.', answer the user's query. |
What is the biomedical concept corresponding to 'pelizaeus-merzbacher disease'? | [
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease",
"pmd (pelizaeus-merzbacher disease)",
"classic pelizaeus-merzbacher disease",
"classic pelizaeus merzbacher disease",
"pelizaeus-merzbacher disease, classic",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosom... | [
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type"
] | Given the context 'Our findings suggest that in some patients, Pelizaeus-Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier..', answer the user's que... |
What is the biomedical concept corresponding to 'diastrophic dysplasia'? | [
"diastrophic dysplasia",
"dtd (diastrophic dysplasia)",
"diastrophic dwarfism",
"dd diastrophic dysplasia, broad bone-platyspondylic variant, included"
] | [
"diastrophic dysplasia, broad bone-platyspondylic variant",
"ddsh (dyssegmental dysplasia)",
"pseudodiastrophic dysplasia",
"dolichospondylic dysplasia",
"pseudodiastrophic dwarfism",
"odontochondrodysplasia",
"metatropic dysplasia",
"dysplasia, progressive diaphyseal",
"metatropic dysplasia type ii... | Given the context 'Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
', answer the user's query. |
What is the biomedical concept corresponding to 'chondrodysplasias'? | [
"osteochondrodysplasia",
"osteochondrodysplasias",
"dyschondroplasia (osteochondrodysplasias)"
] | [
"chondromatosis",
"chondrodysplasias, hereditary deforming",
"chondrodysplasia, hereditary deforming",
"chondromatoses",
"hereditary deforming chondrodysplasias",
"deforming chondrodysplasias, hereditary",
"hereditary deforming chondrodysplasia",
"deforming chondrodysplasia, hereditary",
"chondromal... | Given the context 'Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems.', answer the user's query. |
What is the biomedical concept corresponding to 'diastrophic dysplasia'? | [
"diastrophic dysplasia",
"dtd (diastrophic dysplasia)",
"diastrophic dwarfism",
"dd diastrophic dysplasia, broad bone-platyspondylic variant, included"
] | [
"diastrophic dysplasia, broad bone-platyspondylic variant",
"ddsh (dyssegmental dysplasia)",
"pseudodiastrophic dysplasia",
"dolichospondylic dysplasia",
"pseudodiastrophic dwarfism",
"odontochondrodysplasia",
"metatropic dysplasia",
"dysplasia, progressive diaphyseal",
"metatropic dysplasia type ii... | Given the context 'We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.', answer the user's query. |
What is the biomedical concept corresponding to 'metatropic dysplasia'? | [
"metatropic dysplasia",
"metatropic dysplasia type 1",
"metatropic dysplasia 1",
"mtd (metatropic dwarfism)",
"metatropic dwarfism"
] | [
"metatropic dysplasia type ii",
"metatropic dysplasia 2",
"metatropic dwarfism, type ii",
"metatropic dwarfism, type 2",
"mega-epiphyseal dwarfism",
"megaepiphyseal dwarfism",
"multiple epiphyseal dysplasia",
"dysplasia epiphysealis multiplex",
"metaphyseal dysplasia",
"syndesmodysplasic dwarfism"... | Given the context 'We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.', answer the user's query. |
What is the biomedical concept corresponding to 'pelizaeus-merzbacher disease'? | [
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease",
"pmd (pelizaeus-merzbacher disease)",
"classic pelizaeus-merzbacher disease",
"classic pelizaeus merzbacher disease",
"pelizaeus-merzbacher disease, classic",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosom... | [
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type"
] | Given the context 'Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
', answer the user's query. |
What is the biomedical concept corresponding to 'x-linked pelizaeus-merzbacher disease'? | [
"pelizaeus merzbacher disease",
"classic pelizaeus merzbacher disease",
"classic pelizaeus-merzbacher disease",
"pelizaeus-merzbacher disease",
"pelizaeus merzbacher disease, classic",
"pelizaeus-merzbacher disease, classic",
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly... | [
"pelizaeus-merzbacher disease, autosomal dominant or late-onset type",
"pelizaeus-merzbacher-like disease, 1",
"pelizaeus-merzbacher-like disease, autosomal recessive, 2"
] | Given the context 'We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD).', answer the user's query. |
What is the biomedical concept corresponding to 'pmd'? | [
"pmd (pelizaeus-merzbacher disease)"
] | [
"premenstrual dysphoric disorder",
"pmds (persistent mullerian duct syndrome)",
"premenstrual dysphoric syndrome",
"syndrome, premenstrual dysphoric",
"disorder, premenstrual dysphoric",
"promm (proximal myotonic myopathy)",
"pmm2 deficiency",
"pmc (myotonic disorders)",
"mpmcd",
"dysphoric disord... | Given the context 'We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD).', answer the user's query. |
What is the biomedical concept corresponding to 'pmd'? | [
"pmd (pelizaeus-merzbacher disease)"
] | [
"premenstrual dysphoric disorder",
"pmds (persistent mullerian duct syndrome)",
"premenstrual dysphoric syndrome",
"syndrome, premenstrual dysphoric",
"disorder, premenstrual dysphoric",
"promm (proximal myotonic myopathy)",
"pmm2 deficiency",
"pmc (myotonic disorders)",
"mpmcd",
"dysphoric disord... | Given the context 'In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of PMD based on her genotype with the PLP intragenic polymorphism..', answer the user's query. |
What is the biomedical concept corresponding to 'gardner syndrome'? | [
"gardner syndrome",
"gardner syndromes",
"syndrome, gardner",
"gardner's syndrome",
"gardner's syndromes",
"gardners syndrome",
"syndromes, gardner",
"syndrome, gardner's",
"syndromes, gardner's"
] | [
"gardner morrisson abbot syndrome",
"xerocytosis gardos",
"gardner-silengo-wachtel syndrome",
"hgps (progeria)",
"samson gardner syndrome",
"progeria syndromes, hutchinson-gilford",
"progeria-like syndromes",
"hutchinson gilford progeria syndrome",
"hutchinson-gilford progeria syndromes",
"hutchin... | Given the context 'Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
', answer the user's query. |
What is the biomedical concept corresponding to 'gardner syndrome'? | [
"gardner syndrome",
"gardner syndromes",
"syndrome, gardner",
"gardner's syndrome",
"gardner's syndromes",
"gardners syndrome",
"syndromes, gardner",
"syndrome, gardner's",
"syndromes, gardner's"
] | [
"gardner morrisson abbot syndrome",
"xerocytosis gardos",
"gardner-silengo-wachtel syndrome",
"hgps (progeria)",
"samson gardner syndrome",
"progeria syndromes, hutchinson-gilford",
"progeria-like syndromes",
"hutchinson gilford progeria syndrome",
"hutchinson-gilford progeria syndromes",
"hutchin... | Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', answer the user's query. |
What is the biomedical concept corresponding to 'mental retardation'? | [
"mental retardation",
"retardation, mental",
"disability, intellectual",
"intellectual disability",
"mental deficiencies",
"disabilities, intellectual",
"intellectual disabilities",
"mental deficiency",
"deficiencies, mental",
"retardation, psychosocial mental"
] | [
"mental deterioration"
] | Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', answer the user's query. |
What is the biomedical concept corresponding to 'craniofacial abnormalities'? | [
"craniofacial abnormalities",
"craniofacial abnormality",
"abnormalities, craniofacial",
"abnormality, craniofacial"
] | [
"maxillofacial abnormalities",
"abnormalities, dentofacial",
"maxillofacial abnormality",
"dentofacial abnormalities",
"abnormalities, maxillofacial",
"abnormality, dentofacial",
"craniofacial dysostoses",
"dentofacial abnormality",
"abnormality, maxillofacial",
"craniofacial microsomias"
] | Given the context 'We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities.', answer the user's query. |
What is the biomedical concept corresponding to 'fpc'? | [
"fpc (adenomatous polyposis coli)",
"adenomatous polyposis coli, familial",
"familial adenomatous polyposis coli",
"polyposis coli, familial",
"polyposus, familial multiple",
"familial polyposis coli",
"multiple polyposus, familial",
"adenomatous polyposis, familial",
"polyposes, familial multiple",... | [
"fph2, formerly",
"fphh (hyperpigmentation with or without hypopigmentation, familial progressive)",
"pfmccd",
"fpevf",
"fpld3",
"fpl2 (lipodystrophy, familial partial)",
"fpp (parietal foramina)",
"fpld2",
"fpdmm"
] | Given the context 'The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies', answer the user's query. |
What is the biomedical concept corresponding to 'type i human complement c2 deficiency'? | [
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency",
"c2 deficiency"
] | [
"complement factor i deficiency",
"c3g2 (complement factor i deficiency)",
"complement component 8 deficiency, type ii",
"hcf ii deficiency",
"cfid (complement factor i deficiency)",
"c3 inactivator deficiency",
"c3 deficiency, autosomal recessive",
"complement component 3 deficiency, autosomal recess... | Given the context 'Type I human complement C2 deficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'deficiency of complement protein c2'? | [
"c2d (complement component 2 deficiency)",
"c2 deficiency",
"complement component 2 deficiency"
] | [
"c3g2 (complement factor i deficiency)",
"c3 inactivator deficiency",
"c3 deficiency, autosomal recessive",
"complement component 3 deficiency, autosomal recessive",
"complement component 8 deficiency, type ii",
"complement factor b deficiency",
"factor ii deficiency",
"deficiency, factor ii",
"defi... | Given the context 'Two variants of a genetic deficiency of complement protein C2 (C2D) have been previously identified.', answer the user's query. |
What is the biomedical concept corresponding to 'type i c2 deficiency'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency"
] | [
"hcf ii deficiency",
"tc ii deficiency",
"factor ii deficiency",
"car factor deficiency",
"car. factor deficiency",
"heparin cofactor ii deficiency",
"factor ii deficiencies",
"pccf deficiency",
"proc deficiency, autosomal dominant",
"apolipoprotein c ii deficiency"
] | Given the context 'Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplotype).', ans... |
What is the biomedical concept corresponding to 'c2-deficient'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency"
] | [
"tc ii deficiency",
"ncf2 deficiency",
"transcobalamin ii deficiency",
"c3 deficiency, autosomal recessive",
"tcn2 deficiency",
"cobalamin r binder protein deficiency",
"cholinesterase 2 deficiency",
"c3g2 (complement factor i deficiency)",
"hcf ii deficiency",
"niemann-pick disease, type c2"
] | Given the context 'Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplotype).', ans... |
What is the biomedical concept corresponding to 'type i c2 deficiency'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency"
] | [
"hcf ii deficiency",
"tc ii deficiency",
"factor ii deficiency",
"car factor deficiency",
"car. factor deficiency",
"heparin cofactor ii deficiency",
"factor ii deficiencies",
"pccf deficiency",
"proc deficiency, autosomal dominant",
"apolipoprotein c ii deficiency"
] | Given the context 'To determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype.', answer the user's query. |
What is the biomedical concept corresponding to 'type i c2-deficient'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)"
] | [
"tc ii deficiency",
"hcf ii deficiency",
"cdg iih",
"car factor deficiency",
"transcobalamin ii deficiency",
"proc deficiency, autosomal dominant",
"cdg iin",
"c8 deficiency, type ii",
"apoc2 deficiency",
"cdg ii"
] | Given the context 'To determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype.', answer the user's query. |
What is the biomedical concept corresponding to 'type ii c2-deficient'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency"
] | [
"tc ii deficiency",
"hcf ii deficiency",
"cdg iih",
"cdg ii",
"transcobalamin ii deficiency",
"c8 deficiency, type ii",
"cdg iim",
"cdg iin",
"apoc2 deficiency",
"cdg iis"
] | Given the context 'In studies of eight kindred, the 28-base pair deletion was observed in all C2Q0 alleles associated with the common type I deficient complotype/haplotype; this deletion was not present in normal C2 nor in type II C2-deficient genes.', answer the user's query. |
What is the biomedical concept corresponding to 'type i human complement c2 deficiency'? | [
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency",
"c2 deficiency"
] | [
"complement factor i deficiency",
"c3g2 (complement factor i deficiency)",
"complement component 8 deficiency, type ii",
"hcf ii deficiency",
"cfid (complement factor i deficiency)",
"c3 inactivator deficiency",
"c3 deficiency, autosomal recessive",
"complement component 3 deficiency, autosomal recess... | Given the context 'These data demonstrate that 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated ... |
What is the biomedical concept corresponding to 'c2-deficient'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency"
] | [
"tc ii deficiency",
"ncf2 deficiency",
"transcobalamin ii deficiency",
"c3 deficiency, autosomal recessive",
"tcn2 deficiency",
"cobalamin r binder protein deficiency",
"cholinesterase 2 deficiency",
"c3g2 (complement factor i deficiency)",
"hcf ii deficiency",
"niemann-pick disease, type c2"
] | Given the context 'These data demonstrate that 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated ... |
What is the biomedical concept corresponding to 'type ii c2 deficiency'? | [
"c2 deficiency",
"c2d (complement component 2 deficiency)",
"complement component 2 deficiency"
] | [
"tc ii deficiency",
"hcf ii deficiency",
"factor ii deficiency",
"factor ii deficiencies",
"heparin cofactor ii deficiency",
"c8 deficiency, type ii",
"car factor deficiency",
"deficiency, factor ii",
"apolipoprotein c ii deficiency",
"cdg iih"
] | Given the context 'These data demonstrate that 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated ... |
What is the biomedical concept corresponding to 'genetic defect'? | [
"genetic disorder",
"genetic disorders",
"genetic disease",
"disorder, genetic",
"disorders, genetic",
"genetic diseases",
"disease, genetic",
"diseases, genetic",
"single gene defects",
"defects, single-gene"
] | [
"defect, birth"
] | Given the context 'These data demonstrate that 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated ... |
What is the biomedical concept corresponding to 'fmr1 deficiency'? | [
"fxs (fragile x syndrome)",
"fragile x-f mental retardation syndrome",
"fragile x mental retardation syndrome",
"fragile x syndrome",
"fragile x syndromes",
"syndrome, fragile x",
"syndromes, fragile x",
"mental retardation, x-linked, associated with fragile site fraxe",
"fraxe mental retardation sy... | [
"fmr1-related primary ovarian insufficiency",
"fmr1 related primary ovarian insufficiency",
"fragile x tremor ataxia syndrome",
"fragile x tremor/ataxia syndrome",
"fragile x associated primary ovarian insufficiency",
"fragile x-associated tremor ataxia syndrome",
"fragile x-associated primary ovarian i... | Given the context '(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features.
Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene.', answer the user's query. |
What is the biomedical concept corresponding to 'fragile x syndrome'? | [
"fragile x syndrome",
"fragile x syndromes",
"syndrome, fragile x",
"syndromes, fragile x",
"fxs (fragile x syndrome)",
"fragile x mental retardation syndrome",
"fragile x-f mental retardation syndrome",
"fra(x) syndrome",
"syndrome, fraxa",
"mental retardation, x-linked, associated with fragile s... | [
"fragile x tremor ataxia syndrome",
"fragile x tremor/ataxia syndrome",
"fxtas fragile x tremor ataxia syndrome",
"fragile x-associated tremor ataxia syndrome"
] | Given the context '(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features.
Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene.', answer the user's query. |
What is the biomedical concept corresponding to 'mental retardation'? | [
"mental retardation",
"retardation, mental",
"disability, intellectual",
"intellectual disability",
"mental deficiencies",
"disabilities, intellectual",
"intellectual disabilities",
"mental deficiency",
"deficiencies, mental",
"retardation, psychosocial mental"
] | [
"mental deterioration"
] | Given the context '(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features.
Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene.', answer the user's query. |
What is the biomedical concept corresponding to 'fragile x syndrome'? | [
"fragile x syndrome",
"fragile x syndromes",
"syndrome, fragile x",
"syndromes, fragile x",
"fxs (fragile x syndrome)",
"fragile x mental retardation syndrome",
"fragile x-f mental retardation syndrome",
"fra(x) syndrome",
"syndrome, fraxa",
"mental retardation, x-linked, associated with fragile s... | [
"fragile x tremor ataxia syndrome",
"fragile x tremor/ataxia syndrome",
"fxtas fragile x tremor ataxia syndrome",
"fragile x-associated tremor ataxia syndrome"
] | Given the context 'As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to fragile X syndrome, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued.', answer the ... |
What is the biomedical concept corresponding to 'fragile x'? | [
"fragile x syndrome",
"syndrome, fragile x",
"fxs (fragile x syndrome)",
"fragile x syndromes",
"syndromes, fragile x",
"fra(x) syndrome",
"fragile x mental retardation syndrome",
"fragile x-f mental retardation syndrome",
"syndrome, fraxa",
"syndromes, fraxa"
] | [
"fragile x tremor ataxia syndrome",
"fragile x tremor/ataxia syndrome",
"fxtas fragile x tremor ataxia syndrome"
] | Given the context 'Given the complex behavioral phenotype in fragile X patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model.',... |
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 'The mouse displayed reduced anxiety-related responses with increased exploratory behavior.', answer the user's query. |
What is the biomedical concept corresponding to 'fragile x syndrome'? | [
"fragile x syndrome",
"fragile x syndromes",
"syndrome, fragile x",
"syndromes, fragile x",
"fxs (fragile x syndrome)",
"fragile x mental retardation syndrome",
"fragile x-f mental retardation syndrome",
"fra(x) syndrome",
"syndrome, fraxa",
"mental retardation, x-linked, associated with fragile s... | [
"fragile x tremor ataxia syndrome",
"fragile x tremor/ataxia syndrome",
"fxtas fragile x tremor ataxia syndrome",
"fragile x-associated tremor ataxia syndrome"
] | Given the context 'These findings have significant implications for gene therapy for fragile X syndrome since overexpression of the gene may harbor its own phenotype..', answer the user's query. |
What is the biomedical concept corresponding to 'fabry disease'? | [
"fabry disease",
"fabry's disease",
"anderson fabry disease",
"anderson-fabry disease",
"alpha-galactosidase a deficiency disease",
"alpha galactosidase a deficiency disease",
"deficiency, alpha-galactosidase a"
] | [
"fabry disease, cardiac variant",
"beta-galactosidase deficiency, galactosylceramide",
"beta-galactosidase-1 deficiency disease",
"gaucher disease type 1",
"deficiency disease, lysosomal alpha-1,4-glucosidase",
"lysosomal alpha-1,4-glucosidase deficiency disease",
"glucosylceramide lipidosis",
"alpha-... | Given the context 'Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysos... |
What is the biomedical concept corresponding to 'fabry disease'? | [
"fabry disease",
"fabry's disease",
"anderson fabry disease",
"anderson-fabry disease",
"alpha-galactosidase a deficiency disease",
"alpha galactosidase a deficiency disease",
"deficiency, alpha-galactosidase a"
] | [
"fabry disease, cardiac variant",
"beta-galactosidase deficiency, galactosylceramide",
"beta-galactosidase-1 deficiency disease",
"gaucher disease type 1",
"deficiency disease, lysosomal alpha-1,4-glucosidase",
"lysosomal alpha-1,4-glucosidase deficiency disease",
"glucosylceramide lipidosis",
"alpha-... | Given the context 'Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysos... |
What is the biomedical concept corresponding to 'angiokeratoma corporis diffusum'? | [
"angiokeratoma corporis diffusum",
"angiokeratoma, diffuse",
"diffuse angiokeratoma",
"angiokeratoma diffuse"
] | [
"angiokeratoma corporis diffusum with arteriovenous fistulas",
"angiokeratomas",
"angiokeratoma",
"lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum",
"erythrokeratoderma, reticular",
"parakeratosis variegata",
"hyperkeratoses, localized epidermolytic",
"epithelioid angiomatosis... | Given the context 'Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysos... |
What is the biomedical concept corresponding to 'angiokeratoma'? | [
"angiokeratoma",
"angiokeratomas"
] | [
"diffuse angiokeratoma",
"angiokeratoma, diffuse",
"angiokeratoma diffuse",
"angiokeratoma corporis diffusum",
"parakeratoses",
"keratoacanthomas",
"keratomas",
"keratoacanthoma",
"keratoma",
"parakeratosis"
] | Given the context 'Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.', answer the user's query. |
What is the biomedical concept corresponding to 'severe acroparesthesia'? | [
"painful paresthesia",
"painful paresthesias",
"paresthesia, painful",
"paresthesias, painful",
"distal paresthesia",
"distal paresthesias",
"paresthesia, distal",
"paresthesias, distal",
"paresthesia",
"paresthesias"
] | [
"tactile hypesthesia",
"tactile hypesthesias",
"hypesthesia, tactile",
"hypesthesias, tactile",
"hypesthesia",
"hypesthesias",
"hyperesthesias, tactile",
"hypesthesia, thermal",
"thermal hypesthesia",
"oxyesthesia"
] | Given the context 'Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.', answer the user's query. |
What is the biomedical concept corresponding to 'renal failure'? | [
"renal failure",
"renal failures",
"failure, renal",
"failures, renal",
"kidney failure",
"kidney failures",
"failure, kidney",
"failures, kidney",
"renal insufficiency",
"renal insufficiencies"
] | [
"chronic renal failure",
"renal failure, chronic",
"chronic renal insufficiency",
"chronic kidney failure",
"chronic kidney insufficiency",
"kidney failure, chronic",
"renal insufficiency, chronic"
] | Given the context 'Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.', answer the user's query. |
What is the biomedical concept corresponding to 'vasculopathy of the heart and brain'? | [
"disease, vascular",
"vascular disease"
] | [
"hydrocephaly-hydranencephaly due to cerebral vasculopathy",
"hydrocephaly/hydranencephaly due to cerebral vasculopathy",
"brain vascular disorders",
"cerebral microangiopathy",
"intracranial vascular disease",
"vascular disorders, brain",
"microangiopathy, cerebral",
"brain vascular disorder",
"int... | Given the context 'Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain.', answer the user's query. |
What is the biomedical concept corresponding to 'alpha-galactosidase deficiency'? | [
"deficiency, alpha-galactosidase a",
"alpha-galactosidase a deficiency",
"alpha galactosidase a deficiency",
"alpha-galactosidase a deficiency disease",
"alpha galactosidase a deficiency disease"
] | [
"alpha-galactosidase b deficiency",
"beta-galactosidase deficiency",
"beta galactosidase deficiency",
"deficiency, beta galactosidase",
"deficiency, beta-galactosidase",
"beta-galactosidase-1 deficiency",
"deficiency, beta-galactosidase-1",
"beta-galactosidase-1 deficiency disease",
"beta galactosid... | Given the context 'While demonstration of alpha-galactosidase deficiency in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling.', answer the u... |
What is the biomedical concept corresponding to 'alpha-gal a deficiency'? | [
"alpha-galactosidase a deficiency",
"alpha galactosidase a deficiency",
"deficiency, alpha-galactosidase a",
"alpha-galactosidase a deficiency disease",
"alpha galactosidase a deficiency disease"
] | [
"alpha-gal syndrome",
"alpha-galactosidase b deficiency",
"α-gal syndrome",
"galb deficiency",
"deficiency, gale",
"gale deficiency",
"alpha-n-acetylgalactosaminidase deficiency",
"galc deficiency",
"deficiencies, gale",
"deficiency, galc"
] | Given the context 'By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD.', answer the user's query. |
What is the biomedical concept corresponding to 'bipolar disorder'? | [
"bipolar disorder",
"bipolar disorders",
"disorder, bipolar",
"bipolar mood disorder",
"bipolar mood disorders",
"mood disorder, bipolar",
"disorder, bipolar mood",
"psychosis, bipolar affective",
"affective psychosis, bipolar",
"bipolar affective psychosis"
] | [
"bipolar and related disorders",
"bipolar affective disorder (major affective disorder 1)",
"manic-depressive illness",
"bipolar affective disorder (major affective disorder 2)"
] | Given the context 'Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect.
', answer the user's query. |
What is the biomedical concept corresponding to 'bipolar affective disorder'? | [
"psychosis, bipolar affective",
"bipolar affective psychosis",
"bipolar mood disorder",
"affective psychosis, bipolar",
"psychoses, bipolar affective",
"bipolar mood disorders",
"bipolar disorder",
"disorder, bipolar mood",
"bipolar disorders",
"disorder, bipolar"
] | [
"bipolar affective disorder (major affective disorder 1)",
"bipolar affective disorder (major affective disorder 2)",
"bipolar affective disorder (major affective disorder 6)",
"bipolar affective disorder (major affective disorder 4)",
"bipolar affective disorder (major affective disorder 7)"
] | Given the context 'A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD).', answer the user's query. |
What is the biomedical concept corresponding to 'bpad'? | [
"bipolar affective psychosis"
] | [
"bpad (major affective disorder 1)",
"bpad (major affective disorder 2)",
"bpad (major affective disorder 4)",
"bpad (major affective disorder 6)",
"bpad (major affective disorder 5)",
"bipolar affective disorder, early-onset",
"bipolar affective disorder (major affective disorder 1)",
"bipolar affect... | Given the context 'A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD).', answer the user's query. |
What is the biomedical concept corresponding to 'bpad'? | [
"bipolar affective psychosis"
] | [
"bpad (major affective disorder 1)",
"bpad (major affective disorder 2)",
"bpad (major affective disorder 4)",
"bpad (major affective disorder 6)",
"bpad (major affective disorder 5)",
"bipolar affective disorder, early-onset",
"bipolar affective disorder (major affective disorder 1)",
"bipolar affect... | Given the context 'We have studied 28 nuclear families selected for apparent unilineal transmission of the BPAD phenotype, by using 31 polymorphic markers spanning chromosome 18.', answer the user's query. |
What is the biomedical concept corresponding to 'bpad'? | [
"bipolar affective psychosis"
] | [
"bpad (major affective disorder 1)",
"bpad (major affective disorder 2)",
"bpad (major affective disorder 4)",
"bpad (major affective disorder 6)",
"bpad (major affective disorder 5)",
"bipolar affective disorder, early-onset",
"bipolar affective disorder (major affective disorder 1)",
"bipolar affect... | Given the context 'Our results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder.', answer the user's query. |
What is the biomedical concept corresponding to 'retinal dystrophy'? | [
"retinal dystrophy",
"dystrophy, retinal",
"retinal dystrophies",
"dystrophies, retinal"
] | [
"dysplasia, retinal",
"retinal dysplasia",
"retinal dystrophy with or without extraocular anomalies",
"retinal degeneration",
"retinal degenerations",
"degenerations, retinal",
"degeneration, retinal",
"retinal dysplasias",
"dysplasias, retinal",
"retinal dystrophies, cone-rod"
] | Given the context 'Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy..', answer the user's query. |
What is the biomedical concept corresponding to 'chm'? | [
"chm (choroideremia)",
"choroideremia",
"choroideremias"
] | [
"chm (hydatidiform mole)",
"chmrq1",
"chtd2",
"chng1",
"chyts",
"congenital hypomelanotic and hypermelanotic macules",
"chtd1, included",
"chng3",
"chte (hypothyroidism, central, with testicular enlargement)",
"chh (cartilage-hair hypoplasia)"
] | Given the context 'Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina.', answer the user's query. |
What is the biomedical concept corresponding to 'choroideremia'? | [
"choroideremia",
"choroideremias",
"chm (choroideremia)",
"tapetochoroidal dystrophy, progressive",
"dystrophy, progressive tapetochoroidal"
] | [
"choroideremia with deafness and obesity",
"choroideremia, obesity, and congenital deafness",
"serpiginous choroidopathies",
"serpiginous choroidopathy",
"choroideremia deafness obesity",
"chorioretinopathy, birdshot",
"birdshot chorioretinopathies",
"birdshot chorioretinopathy",
"choroidopathy, ser... | Given the context 'Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina.', answer the user's query. |
What is the biomedical concept corresponding to 'choroideremia'? | [
"choroideremia",
"choroideremias",
"chm (choroideremia)",
"tapetochoroidal dystrophy, progressive",
"dystrophy, progressive tapetochoroidal"
] | [
"choroideremia with deafness and obesity",
"choroideremia, obesity, and congenital deafness",
"serpiginous choroidopathies",
"serpiginous choroidopathy",
"choroideremia deafness obesity",
"chorioretinopathy, birdshot",
"birdshot chorioretinopathies",
"birdshot chorioretinopathy",
"choroidopathy, ser... | Given the context 'Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina.', answer the user's query. |
What is the biomedical concept corresponding to 'chm'? | [
"chm (choroideremia)",
"choroideremia",
"choroideremias"
] | [
"chm (hydatidiform mole)",
"chmrq1",
"chtd2",
"chng1",
"chyts",
"congenital hypomelanotic and hypermelanotic macules",
"chtd1, included",
"chng3",
"chte (hypothyroidism, central, with testicular enlargement)",
"chh (cartilage-hair hypoplasia)"
] | Given the context 'Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina.', answer the user's query. |
What is the biomedical concept corresponding to 'chm'? | [
"chm (choroideremia)",
"choroideremia",
"choroideremias"
] | [
"chm (hydatidiform mole)",
"chmrq1",
"chtd2",
"chng1",
"chyts",
"congenital hypomelanotic and hypermelanotic macules",
"chtd1, included",
"chng3",
"chte (hypothyroidism, central, with testicular enlargement)",
"chh (cartilage-hair hypoplasia)"
] | Given the context '12% of unrelated male patients carry deletions of the partially cloned CHM gene.', answer the user's query. |
What is the biomedical concept corresponding to 'chm'? | [
"chm (choroideremia)",
"choroideremia",
"choroideremias"
] | [
"chm (hydatidiform mole)",
"chmrq1",
"chtd2",
"chng1",
"chyts",
"congenital hypomelanotic and hypermelanotic macules",
"chtd1, included",
"chng3",
"chte (hypothyroidism, central, with testicular enlargement)",
"chh (cartilage-hair hypoplasia)"
] | Given the context 'In Finland, there are more than 120 living CHM patients belonging to eight apparently unrelated pedigrees.', answer the user's query. |
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