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What is the biomedical concept corresponding to 'skin tumour'?
[ "skin neoplasm", "neoplasm, skin", "skin neoplasms", "neoplasms, skin", "cancer, skin", "cancer of the skin", "cancers, skin", "cancer of skin", "skin cancer", "skin cancers" ]
[ "epithelial neoplasms", "skin disease", "skin diseases", "tumors", "dermatosis", "epithelial neoplasm", "dermatoses", "neoplasms, epithelial", "adnexal and skin appendage neoplasms", "tumor" ]
Given the context 'A common human skin tumour is caused by activating mutations in beta-catenin. ', answer the user's query.
What is the biomedical concept corresponding to 'cancer'?
[ "cancer", "cancers", "malignancies", "malignancy", "malignant neoplasm", "neoplasms, malignant", "malignant neoplasms", "neoplasm, malignant", "neoplasias", "neoplasia" ]
[ "carcinoma", "carcinomas", "carcinogenesis", "tumorigenesis", "carcinomatoses", "oncogenesis" ]
Given the context 'One of the target genes for beta-catenin/TCF encodes c-MYC, explaining why constitutive activation of the WNT pathway can lead to cancer, particularly in the colon.', answer the user's query.
What is the biomedical concept corresponding to 'colon cancers'?
[ "colon cancers", "cancers, colon", "cancer, colon", "cancer of colon", "cancer of the colon", "colon cancer (colonic neoplasms)", "colonic cancers", "cancer, colonic", "cancers, colonic", "colonic cancer" ]
[ "colon cancer (colorectal neoplasms)", "colorectal cancers", "colorectal cancer", "cancers, colorectal", "cancer, colorectal", "colorectal carcinomas", "colorectal carcinoma", "carcinoma, colorectal" ]
Given the context 'Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.', answer the user's query.
What is the biomedical concept corresponding to 'apc'?
[ "apc (adenomatous polyposis coli)", "adenomatous polyposis coli, familial", "adenomatous polyposis, familial", "adenomatous polyposis coli", "familial adenomatous polyposis coli", "fpc (adenomatous polyposis coli)", "polyposis coli, adenomatous", "polyposis, familial adenomatous", "familial adenomat...
[ "adenomatous polyposis coli, attenuated", "colorectal adenomatous polyposis, autosomal recessive", "familial adenomatous polyposis 2" ]
Given the context 'Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations.', answer the user's query.
What is the biomedical concept corresponding to 'skin tumours'?
[ "skin neoplasm", "skin neoplasms", "neoplasm, skin", "neoplasms, skin", "cancer, skin", "cancers, skin", "cancer of the skin", "cancer of skin", "skin cancers", "skin cancer" ]
[ "epithelial neoplasms", "tumors", "skin disease", "skin diseases", "dermatoses", "dermatosis", "epithelial neoplasm", "neoplasms", "tumor", "neoplasms, epithelial" ]
Given the context 'Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas.', answer the user's query.
What is the biomedical concept corresponding to 'pilomatricomas'?
[ "pilomatricoma", "pilomatrixoma", "pilomatricoma, benign", "benign pilomatricoma", "pilomatrixoma, benign", "benign pilomatrixoma", "ptr (pilomatrixoma)" ]
[ "keratoacanthomas", "acanthoma, pilar sheath", "pilar sheath acanthomas", "acanthomas, pilar sheath", "pilar sheath acanthoma", "keratoacanthoma", "keratosis pilaris", "pilar cyst (epidermal cyst)", "hamartoma", "hamartomas" ]
Given the context 'Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas.', answer the user's query.
What is the biomedical concept corresponding to 'pilomatricomas'?
[ "pilomatricoma", "pilomatrixoma", "pilomatricoma, benign", "benign pilomatricoma", "pilomatrixoma, benign", "benign pilomatrixoma", "ptr (pilomatrixoma)" ]
[ "keratoacanthomas", "acanthoma, pilar sheath", "pilar sheath acanthomas", "acanthomas, pilar sheath", "pilar sheath acanthoma", "keratoacanthoma", "keratosis pilaris", "pilar cyst (epidermal cyst)", "hamartoma", "hamartomas" ]
Given the context 'Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations.', answer the user's query.
What is the biomedical concept corresponding to 'skin tumour'?
[ "skin neoplasm", "neoplasm, skin", "skin neoplasms", "neoplasms, skin", "cancer, skin", "cancer of the skin", "cancers, skin", "cancer of skin", "skin cancer", "skin cancers" ]
[ "epithelial neoplasms", "skin disease", "skin diseases", "tumors", "dermatosis", "epithelial neoplasm", "dermatoses", "neoplasms, epithelial", "adnexal and skin appendage neoplasms", "tumor" ]
Given the context 'Here, we explore the cell origin and aetiology of this common human skin tumour.', 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 'We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.', answer the user's query.
What is the biomedical concept corresponding to 'pilomatricomas'?
[ "pilomatricoma", "pilomatrixoma", "pilomatricoma, benign", "benign pilomatricoma", "pilomatrixoma, benign", "benign pilomatrixoma", "ptr (pilomatrixoma)" ]
[ "keratoacanthomas", "acanthoma, pilar sheath", "pilar sheath acanthomas", "acanthomas, pilar sheath", "pilar sheath acanthoma", "keratoacanthoma", "keratosis pilaris", "pilar cyst (epidermal cyst)", "hamartoma", "hamartomas" ]
Given the context 'We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells.', answer the user's query.
What is the biomedical concept corresponding to 'tumours'?
[ "tumors", "tumor", "neoplasm", "neoplasms", "neoplasias", "neoplasia", "cancers", "malignancies", "cancer", "neoplasms, malignant" ]
[ "tumorigenesis", "neoplasms by site", "neoplasms by sites", "neoplastic processes", "sites, neoplasm", "site, neoplasm" ]
Given the context 'At least 75% of these tumours possess mutations affecting the amino-terminal segment, normally involved in phosphorylation-dependent, ubiquitin-mediated degradation of the protein.', answer the user's query.
What is the biomedical concept corresponding to 'tumours'?
[ "tumors", "tumor", "neoplasm", "neoplasms", "neoplasias", "neoplasia", "cancers", "malignancies", "cancer", "neoplasms, malignant" ]
[ "tumorigenesis", "neoplasms by site", "neoplasms by sites", "neoplastic processes", "sites, neoplasm", "site, neoplasm" ]
Given the context 'This percentage of CTNNB1 mutations is greater than in all other human tumours examined thus far, and directly implicates beta-catenin/LEF misregulation as the major cause of hair matrix cell tumorigenesis in humans..', 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 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', 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 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', answer the user's query.
What is the biomedical concept corresponding to 'autosomal recessive genetic disorder'?
[ "hereditary disease", "single-gene defect", "disease, hereditary", "single-gene defects", "single gene defects", "hereditary diseases", "diseases, hereditary", "genetic disorder", "defect, single-gene", "defects, single-gene" ]
[ "autosomal dominant", "genetic non-disjunctions", "orphan diseases" ]
Given the context 'HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'Two missense mutations have been described C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'Two missense mutations have been described C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes.', 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 'The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'This substitution accounted for 7. 8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.', answer the user's query.
What is the biomedical concept corresponding to 'hh'?
[ "hh (hemochromatosis)" ]
[ "hhh (hhh syndrome)", "hhhs (hhh syndrome)", "hhh syndrome", "hhhh syndrome", "hhs, included", "h syndrome", "hhc (hypocalciuric hypercalcemia, familial, type 1)", "hh7 (idiopathic hypogonadotropic hypogonadism)", "ihh (idiopathic hypogonadotropic hypogonadism)", "hypocalciuric hypercalcemia, fami...
Given the context 'This substitution accounted for 7. 8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.', 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 'This substitution accounted for 7. 8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'Germline BRCA1 alterations in a population-based series of ovarian cancer cases. ', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 (BRCA1) germline alterations in the ovarian cancer population.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'This is the first population-based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing.', answer the user's query.
What is the biomedical concept corresponding to 'cancer'?
[ "cancer", "cancers", "malignancies", "malignancy", "malignant neoplasm", "neoplasms, malignant", "malignant neoplasms", "neoplasm, malignant", "neoplasias", "neoplasia" ]
[ "carcinoma", "carcinomas", "carcinogenesis", "tumorigenesis", "carcinomatoses", "oncogenesis" ]
Given the context 'Several novel as well as previously reported uncharacterized variants were also identified, some of which were associated with a family history of cancer.', answer the user's query.
What is the biomedical concept corresponding to 'cancer'?
[ "cancer", "cancers", "malignancies", "malignancy", "malignant neoplasm", "neoplasms, malignant", "malignant neoplasms", "neoplasm, malignant", "neoplasias", "neoplasia" ]
[ "carcinoma", "carcinomas", "carcinogenesis", "tumorigenesis", "carcinomatoses", "oncogenesis" ]
Given the context 'The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele-specific amplification.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'The rare form of the Q356R polymorphism was significantly (P = 0. 03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'The rare form of the Q356R polymorphism was significantly (P = 0. 03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk.', answer the user's query.
What is the biomedical concept corresponding to 'ovarian cancer'?
[ "ovarian cancer", "cancer, ovarian", "ovarian cancers", "cancers, ovarian", "ovary cancer", "cancer, ovary", "cancer of ovary", "ovary cancers", "cancer of the ovary", "cancers, ovary" ]
[ "ovarian epithelial cancers", "ovarian epithelial cancer", "epithelial cancer, ovarian", "cancer, ovarian epithelial", "epithelial ovarian cancers", "ovarian epithelial carcinomas", "cancer, epithelial ovarian", "ovarian epithelial carcinoma", "epithelial ovarian cancer", "epithelial carcinoma, ov...
Given the context 'In summary, our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk, and highlight the necessity to screen for missense alterations as well as truncating mutations in this population.', answer the user's query.
What is the biomedical concept corresponding to 'colon carcinoma'?
[ "cancer of the colon", "cancer of colon", "cancer, colon", "colon cancer (colonic neoplasms)", "colon cancers", "cancers, colon", "colon adenocarcinomas", "colonic cancer", "cancer, colonic", "adenocarcinomas, colon" ]
[ "colon cancer (colorectal neoplasms)", "colorectal carcinoma", "carcinoma, colorectal", "colorectal carcinomas", "carcinomas, colorectal", "colorectal cancer" ]
Given the context 'In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]).', answer the user's query.
What is the biomedical concept corresponding to 'colon carcinoma'?
[ "cancer of the colon", "cancer of colon", "cancer, colon", "colon cancer (colonic neoplasms)", "colon cancers", "cancers, colon", "colon adenocarcinomas", "colonic cancer", "cancer, colonic", "adenocarcinomas, colon" ]
[ "colon cancer (colorectal neoplasms)", "colorectal carcinoma", "carcinoma, colorectal", "colorectal carcinomas", "carcinomas, colorectal", "colorectal cancer" ]
Given the context 'Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC -/- colon carcinoma cells.', answer the user's query.
What is the biomedical concept corresponding to 'cancer'?
[ "cancer", "cancers", "malignancies", "malignancy", "malignant neoplasm", "neoplasms, malignant", "malignant neoplasms", "neoplasm, malignant", "neoplasias", "neoplasia" ]
[ "carcinoma", "carcinomas", "carcinogenesis", "tumorigenesis", "carcinomatoses", "oncogenesis" ]
Given the context '3. APC and APC2 may therefore have comparable functions in development and cancer.', answer the user's query.
What is the biomedical concept corresponding to 'familial deficiency of the seventh component of complement'?
[ "complement component 7 deficiency", "c7d (complement component 7 deficiency)", "c7 deficiency" ]
[ "deficiency, factor 7", "deficiency, factor seven", "factor seven deficiency", "factor seven deficiencies", "deficiencies, factor seven", "factor 7 deficiency", "deficiencies, factor 7", "factor 7 deficiencies", "complement component 6 deficiency", "cfbd (complement factor b deficiency)" ]
Given the context 'Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. ', answer the user's query.
What is the biomedical concept corresponding to 'bacteremic infections due to neisseria'?
[ "infections, neisseriaceae", "neisseriaceae infections", "infection, neisseriaceae", "neisseriaceae infection" ]
[ "neisseria meningitides", "meningitis, neisseria", "neisseria meningitis", "septicemia, meningococcal", "meningococcal septicemia", "neisseria gonorrhoeae infection", "bacterial meningitides", "meningitides, bacterial", "infection, meningococcal", "infections, meningococcal" ]
Given the context 'Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. ', answer the user's query.
What is the biomedical concept corresponding to 'disseminated gonococcal infection'?
[ "acute disseminated encephalomyelitides" ]
[ "gonorrhea", "neisseria gonorrhoeae infection", "gonococcal perihepatitis", "meningococcal septicemia", "septicemia, meningococcal", "fusariosis, disseminated", "disseminated fusariosis", "fusarioses, disseminated", "disseminated fusarioses", "c gattii infection" ]
Given the context 'The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.', answer the user's query.
What is the biomedical concept corresponding to 'meningococcal meningitis'?
[ "meningococcal meningitis", "meningitis, meningococcal", "meningitis, meningococcic", "neisseria meningitis", "meningitis, neisseria", "serogroup b meningococcal meningitis", "serogroup y, meningococcal meningitis", "meningitis, meningococcal, serogroup b", "meningitis, meningococcal, serogroup y", ...
[ "meningitis, bacterial", "meningitis", "infection, meningococcal", "septicemia, meningococcal", "meningococcal infection", "infections, meningococcal", "meningococcal septicemia", "meningococcal infections", "bacterial meningitis" ]
Given the context 'The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.', 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 'The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity.', answer the user's query.
What is the biomedical concept corresponding to 'absence of functional c7'?
[ "c7 deficiency", "c7d (complement component 7 deficiency)", "complement component 7 deficiency" ]
[ "monosomy 7", "c6 deficiency, subtotal", "c6 deficiency, subtotal, included", "factor 7 deficiency", "deficiency, factor 7", "factor vii deficiency", "factor 7 deficiencies", "deficiency, factor vii", "deficiency, factor seven", "factor seven deficiency" ]
Given the context 'The absence of functional C7 activity could not be accounted for on the basis of an inhibitor.', answer the user's query.
What is the biomedical concept corresponding to 'complete absence of c7'?
[ "c7 deficiency", "c7d (complement component 7 deficiency)", "complement component 7 deficiency" ]
[ "monosomy 7", "c6 deficiency, subtotal", "c6 deficiency, subtotal, included", "chromosome 7, monosomy 7q3", "chromosome 7, monosomy", "chromosome 7, monosomy 7q2", "chromosome 7, monosomy 7p2", "aplasia cutis congenita, nonsyndromic", "monosomy 7q3", "chromosome 7, monosomy 7q21" ]
Given the context 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', answer the user's query.
What is the biomedical concept corresponding to 'meningococcal meningitis'?
[ "meningococcal meningitis", "meningitis, meningococcal", "meningitis, meningococcic", "neisseria meningitis", "meningitis, neisseria", "serogroup b meningococcal meningitis", "serogroup y, meningococcal meningitis", "meningitis, meningococcal, serogroup b", "meningitis, meningococcal, serogroup y", ...
[ "meningitis, bacterial", "meningitis", "infection, meningococcal", "septicemia, meningococcal", "meningococcal infection", "infections, meningococcal", "meningococcal septicemia", "meningococcal infections", "bacterial meningitis" ]
Given the context 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', 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 'Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son.', 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 'HLA histocompatibility typing of the family members did not demonstrate evidence for genetic linkage of C7 deficiency with the major histocompatibility loci.', 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 'This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections.', answer the user's query.
What is the biomedical concept corresponding to 'bacteremic neisseria infections'?
[ "infections, neisseriaceae", "neisseriaceae infections", "neisseriaceae infection", "infection, neisseriaceae" ]
[ "neisseria meningitides", "meningitis, neisseria", "neisseria meningitis", "septicemia, meningococcal", "meningococcal septicemia", "neisseria gonorrhoeae infection", "bacterial meningitides", "meningitides, bacterial", "infections, meningococcal", "infection, meningococcal" ]
Given the context 'This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections.', answer the user's query.
What is the biomedical concept corresponding to 'oromandibular dystonia'?
[ "blepharospasm oromandibular dystonia", "dystonias, blepharospasm-oromandibular", "dystonia, blepharospasm-oromandibular", "dystonia syndrome, blepharospasm-oromandibular", "blepharospasm-oromandibular dystonias", "blepharospasm-oromandibular dystonia", "dystonia syndromes, blepharospasm-oromandibular",...
[ "orofacial dyskinesia", "dyskinesia, orofacial", "orofacial dyskinesias", "dyskinesias, orofacial" ]
Given the context 'GCH1 mutation in a patient with adult-onset oromandibular dystonia. ', answer the user's query.
What is the biomedical concept corresponding to 'oromandibular dystonia'?
[ "blepharospasm oromandibular dystonia", "dystonias, blepharospasm-oromandibular", "dystonia, blepharospasm-oromandibular", "dystonia syndrome, blepharospasm-oromandibular", "blepharospasm-oromandibular dystonias", "blepharospasm-oromandibular dystonia", "dystonia syndromes, blepharospasm-oromandibular",...
[ "orofacial dyskinesia", "dyskinesia, orofacial", "orofacial dyskinesias", "dyskinesias, orofacial" ]
Given the context 'The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.', answer the user's query.
What is the biomedical concept corresponding to 'dystonia'?
[ "dystonia", "dystonia, muscle", "muscle dystonia", "dystonia, limb", "limb dystonia" ]
[ "dystonia disorder", "dystonia disorders", "tardive dystonias", "psychogenic dystonia", "primary dystonias", "dystonia, psychogenic", "tardive dystonia", "psychogenic dystonias", "hereditary dystonias", "familial dystonias" ]
Given the context 'The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.', answer the user's query.
What is the biomedical concept corresponding to 'dystonic'?
[ "dystonia", "dystonia, muscle", "muscle dystonia", "dystonia, limb", "limb dystonia" ]
[ "dystonic disorder", "dystonic disorders", "disorder, dysthymic", "dysthymic disorder", "dysthymic disorders", "dystonia disorder", "dystonia disorders", "dysthymia", "primary dystonias", "tardive dystonias" ]
Given the context 'These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.', answer the user's query.
What is the biomedical concept corresponding to 'dopa-responsive dystonia'?
[ "dopa-responsive dystonia", "dystonia, dopa-responsive", "dystonia, dopa-responsive, autosomal dominant", "drd (dystonia, dopa-responsive)", "dopa-responsive dystonia, autosomal dominant", "dyt5 (dystonia, dopa-responsive)" ]
[ "dopa responsive dystonia, autosomal recessive", "dystonia, dopa-responsive, autosomal recessive", "dopa-responsive dystonia, autosomal recessive", "dystonia, dopa responsive, autosomal recessive", "familial dystonia, autosomal dominant", "autosomal dominant familial dystonia", "dystonia, dopa-responsiv...
Given the context 'These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.', 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 'The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. ', answer the user's query.
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 'HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E ., Quintana, L., Starnes, S. M ., Schatzman, R. C .,', 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 'HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prasss, C. E ., Quintana, L., Starnes, S. M ., Schatzman, R. C .,', answer the user's query.
What is the biomedical concept corresponding to 'hereditary hemochromatotic'?
[ "hemochromatosis, hereditary", "genetic hemochromatosis", "familial hemochromatoses", "familial hemochromatosis", "hemochromatosis, genetic", "hemochromatosis, familial", "hemochromatosis", "hh (hemochromatosis)", "haemochromatosis", "genetic hemochromatoses" ]
[ "hemochromatosis, autosomal dominant", "african hemochromatosis", "hemochromatosis, type 2", "hemochromatosis, type 5" ]
Given the context 'These results also have implications for the understanding of cellular iron homeostasis in organs such as the liver, pancreas, heart, and spleen that are iron loaded in hereditary hemochromatotic individuals lacking functional HFE.', answer the user's query.
What is the biomedical concept corresponding to 'familial mediterranean fever'?
[ "familial mediterranean fever", "mediterranean fever, familial", "familial mediterranean fever, autosomal dominant", "fmf (familial mediterranean fever)", "familial mediterranean fever, autosomal recessive", "familial paroxysmal polyserositis", "polyserositis, familial paroxysmal", "paroxysmal polyser...
[ "autosomal dominant familial periodic fever", "fpf (periodic fever, familial, autosomal dominant)", "periodic fever, familial, autosomal dominant", "fhf (periodic fever, familial, autosomal dominant)", "hereditary periodic fever syndromes", "fever, familial lifelong persistent", "hyperimmunoglobulinemia...
Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', answer the user's query.
What is the biomedical concept corresponding to 'familial mediterranean fever'?
[ "familial mediterranean fever", "mediterranean fever, familial", "familial mediterranean fever, autosomal dominant", "fmf (familial mediterranean fever)", "familial mediterranean fever, autosomal recessive", "familial paroxysmal polyserositis", "polyserositis, familial paroxysmal", "paroxysmal polyser...
[ "autosomal dominant familial periodic fever", "fpf (periodic fever, familial, autosomal dominant)", "periodic fever, familial, autosomal dominant", "fhf (periodic fever, familial, autosomal dominant)", "hereditary periodic fever syndromes", "fever, familial lifelong persistent", "hyperimmunoglobulinemia...
Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', answer the user's query.
What is the biomedical concept corresponding to 'fmf'?
[ "fmf, autosomal dominant", "fmf (familial mediterranean fever)" ]
[ "fmfd ii", "fmfd iii", "syndrome, fibromyalgia-fibromyositis", "fibromyalgia-fibromyositis syndrome", "fibromyalgia-fibromyositis syndromes", "syndromes, fibromyalgia-fibromyositis", "syndrome, fibromyositis-fibromyalgia", "syndromes, fibromyositis-fibromyalgia", "fmfd iv", "fibromyalgia fibromyos...
Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', answer the user's query.
What is the biomedical concept corresponding to 'recessive disorder'?
[ "hereditary disease", "disease, hereditary", "hereditary diseases", "diseases, hereditary", "genetic disorder", "single-gene defect", "single-gene defects", "single gene defects", "genetic disease", "genetic diseases" ]
[ "orphan diseases", "autosomal dominant", "rare disease", "rare diseases" ]
Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', answer the user's query.
What is the biomedical concept corresponding to 'serositis'?
[ "serositis", "serositides" ]
[ "seroma", "seromas", "cellulitis", "mucositis", "steatitides", "myositis", "mastitis", "funisitis", "peritonitis", "steatitis" ]
Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', answer the user's query.
What is the biomedical concept corresponding to 'synovitis'?
[ "synovitis", "synovitides", "thickening, synovial", "thickenings, synovial", "synovial thickening", "synovial thickenings", "hypertrophy, synovial" ]
[ "synoviomas", "periarthritis", "reactive arthritis", "rheumatism, inflammatory", "arthritis, reactive", "tenosynovitis", "rheumatic arthritis", "periarthritides", "inflammatory rheumatism", "arthritis, rheumatic" ]
Given the context 'Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis.', answer the user's query.
What is the biomedical concept corresponding to 'fmf'?
[ "fmf, autosomal dominant", "fmf (familial mediterranean fever)" ]
[ "fmfd ii", "fmfd iii", "syndrome, fibromyalgia-fibromyositis", "fibromyalgia-fibromyositis syndrome", "fibromyalgia-fibromyositis syndromes", "syndromes, fibromyalgia-fibromyositis", "syndrome, fibromyositis-fibromyalgia", "syndromes, fibromyositis-fibromyalgia", "fmfd iv", "fibromyalgia fibromyos...
Given the context 'The FMF gene (MEFV) was cloned recently, and four missense mutations were identified.', answer the user's query.
What is the biomedical concept corresponding to 'fmf'?
[ "fmf, autosomal dominant", "fmf (familial mediterranean fever)" ]
[ "fmfd ii", "fmfd iii", "syndrome, fibromyalgia-fibromyositis", "fibromyalgia-fibromyositis syndrome", "fibromyalgia-fibromyositis syndromes", "syndromes, fibromyalgia-fibromyositis", "syndrome, fibromyositis-fibromyalgia", "syndromes, fibromyositis-fibromyalgia", "fmfd iv", "fibromyalgia fibromyos...
Given the context 'Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations.', answer the user's query.
What is the biomedical concept corresponding to 'fmf'?
[ "fmf, autosomal dominant", "fmf (familial mediterranean fever)" ]
[ "fmfd ii", "fmfd iii", "syndrome, fibromyalgia-fibromyositis", "fibromyalgia-fibromyositis syndrome", "fibromyalgia-fibromyositis syndromes", "syndromes, fibromyalgia-fibromyositis", "syndrome, fibromyositis-fibromyalgia", "syndromes, fibromyositis-fibromyalgia", "fmfd iv", "fibromyalgia fibromyos...
Given the context 'Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF.', answer the user's query.
What is the biomedical concept corresponding to 'autoimmune lymphoproliferative syndrome'?
[ "autoimmune lymphoproliferative syndrome", "autoimmune lymphoproliferative syndromes", "syndrome, autoimmune lymphoproliferative", "lymphoproliferative syndrome, autoimmune", "syndromes, autoimmune lymphoproliferative", "lymphoproliferative syndromes, autoimmune", "alps (autoimmune lymphoproliferative s...
[ "autoimmune lymphoproliferative syndrome, type ii", "autoimmune lymphoproliferative syndrome without fas mutations", "autoimmune lymphoproliferative syndrome, type iii", "autoimmune lymphoproliferative syndrome, type v", "autoimmune lymphoproliferative syndrome, type ia", "autoimmune lymphoproliferative s...
Given the context 'Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.', answer the user's query.
What is the biomedical concept corresponding to 'autoimmune lymphoproliferative syndrome'?
[ "autoimmune lymphoproliferative syndrome", "autoimmune lymphoproliferative syndromes", "syndrome, autoimmune lymphoproliferative", "lymphoproliferative syndrome, autoimmune", "syndromes, autoimmune lymphoproliferative", "lymphoproliferative syndromes, autoimmune", "alps (autoimmune lymphoproliferative s...
[ "autoimmune lymphoproliferative syndrome, type ii", "autoimmune lymphoproliferative syndrome without fas mutations", "autoimmune lymphoproliferative syndrome, type iii", "autoimmune lymphoproliferative syndrome, type v", "autoimmune lymphoproliferative syndrome, type ia", "autoimmune lymphoproliferative s...
Given the context 'Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7-9, which encode the intracellular portion of Fas.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Two missense Fas variants, not restricted to patients with ALPS, were identified.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Among the ALPS-associated Fas mutants, dominant inhibition of apoptosis was much more pronounced in mutants affecting the intracellular, versus extracellular, portion of the Fas receptor.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Mutations causing disruption of the intracellular Fas death domain also showed a higher penetrance of ALPS phenotype features in mutation-bearing relatives.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations.', answer the user's query.
What is the biomedical concept corresponding to 'alps'?
[ "alps (autoimmune lymphoproliferative syndrome)", "alps1a, included", "alps1b, included", "alps2b", "autoimmune lymphoproliferative syndrome type 2b (alps2b)" ]
[ "alps1a", "alps2", "alps2a", "alps3", "alps5", "alps1b", "syndrome, alpers", "alper syndrome", "alpers' syndrome", "alpers disease" ]
Given the context 'Thus, the location of mutations within APT1 strongly influences the development and the severity of ALPS.', answer the user's query.
What is the biomedical concept corresponding to 'x-linked adrenoleukodystrophy'?
[ "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "adrenoleukodystrophy", "x-ald (x-linked adrenoleukodystrophy)", "ald (adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "x-ald", "adrenomyeloneuropathy", "x ald" ]
[ "adrenoleukodystrophy, autosomal neonatal form", "adrenoleukodystrophy, autosomal neonatal", "adrenoleukodystrophy, autosomal, neonatal form", "neonatal adrenoleukodystrophy", "adrenoleukodystrophy, neonatal", "pseudoneonatal adrenoleukodystrophy", "neonatal adrenoleukodystrophies", "adrenoleukodystro...
Given the context 'Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. ', answer the user's query.
What is the biomedical concept corresponding to 'x-linked adrenoleukodystrophy'?
[ "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "adrenoleukodystrophy", "x-ald (x-linked adrenoleukodystrophy)", "ald (adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "x-ald", "adrenomyeloneuropathy", "x ald" ]
[ "adrenoleukodystrophy, autosomal neonatal form", "adrenoleukodystrophy, autosomal neonatal", "adrenoleukodystrophy, autosomal, neonatal form", "neonatal adrenoleukodystrophy", "adrenoleukodystrophy, neonatal", "pseudoneonatal adrenoleukodystrophy", "neonatal adrenoleukodystrophies", "adrenoleukodystro...
Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', answer the user's query.
What is the biomedical concept corresponding to 'inherited disease'?
[ "hereditary disease", "hereditary diseases", "diseases, hereditary", "genetic disease", "disease, hereditary", "disease, genetic", "genetic diseases", "genetic disorder", "diseases, genetic", "disorder, genetic" ]
[ "genetic predisposition to disease", "diseases" ]
Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', answer the user's query.
What is the biomedical concept corresponding to 'neurologic dysfunction'?
[ "neurologic dysfunction", "dysfunction, neurologic", "neurologic dysfunctions", "dysfunctions, neurologic", "deficits, neurologic", "neurologic deficits", "neurologic deficit", "deficit, neurologic", "neurologic manifestations" ]
[ "neurologic disorder", "neurological disorder", "neurologic disorders", "neurological disorders", "disorder, neurologic", "disorder, neurological", "disorders, neurologic", "disorders, neurological", "functional neurological disorder", "disorder, functional neurological" ]
Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', answer the user's query.
What is the biomedical concept corresponding to 'adrenal insufficiency'?
[ "adrenal insufficiency", "adrenal insufficiencies", "hypofunction, adrenal gland", "adrenal gland hypofunction", "hypoadrenalism" ]
[ "primary adrenal insufficiency", "adrenal insufficiency, primary", "insufficiency, primary adrenocortical", "primary adrenocortical insufficiency", "adrenal unresponsiveness to acth", "insufficiencies, primary adrenocortical", "adrenal insufficiency, congenital", "adrenocortical insufficiency, primary...
Given the context 'BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.', answer the user's query.
What is the biomedical concept corresponding to 'childhood cerebral ald'?
[ "x ald", "x-ald", "ald (adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "x-ald (x-linked adrenoleukodystrophy)" ]
[ "progressive neuronal degeneration of childhood with liver disease", "saturine encephalopathy, childhood", "alcohol related neurodevelopmental disorder", "neuronal degeneration of childhood with liver disease, progressive (diffuse cerebral sclerosis of schilder)", "aldolase a deficiency", "aldoa deficienc...
Given the context 'The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state.', answer the user's query.
What is the biomedical concept corresponding to 'cerebral ald'?
[ "ald (adrenoleukodystrophy)", "x ald", "x-ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)" ]
[ "deficiency, aldob", "aldob deficiency", "deficiencies, aldob", "aldob deficiencies", "aldoa deficiency", "aldolase a deficiency", "deficiency, aldolase b", "alexander's disease", "aldolase b deficiency", "aldolase b deficiencies" ]
Given the context 'Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction.', answer the user's query.
What is the biomedical concept corresponding to 'neurologic dysfunction'?
[ "neurologic dysfunction", "dysfunction, neurologic", "neurologic dysfunctions", "dysfunctions, neurologic", "deficits, neurologic", "neurologic deficits", "neurologic deficit", "deficit, neurologic", "neurologic manifestations" ]
[ "neurologic disorder", "neurological disorder", "neurologic disorders", "neurological disorders", "disorder, neurologic", "disorder, neurological", "disorders, neurologic", "disorders, neurological", "functional neurological disorder", "disorder, functional neurological" ]
Given the context 'Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction.', answer the user's query.
What is the biomedical concept corresponding to 'adrenomyeloneuropathy'?
[ "adrenomyeloneuropathy", "adrenoleukodystrophy", "ald (adrenoleukodystrophy)", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "adrenomyodystrophy", "adrenogenital syndromes", "adrenogenital syndrome", "syndrome, adrenogenital", "syndromes, adrenogenital", "neonatal adrenoleukodystrophies", "adrenoleukodystrophies, neonatal", "adrenoleukodystrophy, autosomal neonatal", "adrenoleukodystrophy, neonatal", "adrenoleukodystrop...
Given the context 'Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized.', answer the user's query.
What is the biomedical concept corresponding to 'addison disease'?
[ "addison disease", "disease, addison", "addisons disease", "addison's disease", "primary adrenocortical insufficiencies", "primary adrenocortical insufficiency", "primary hypoadrenalism", "primary adrenal insufficiency" ]
[ "addison disease, congenital", "x-linked addison disease", "addison disease, x-linked", "addison disease, x linked", "familial x-linked addison disease", "familial x linked addison disease", "addison disease and cerebral sclerosis", "hyperadrenocorticism", "hypercortisolism, pituitary-dependant", ...
Given the context 'Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized.', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'OBJECTIVES To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients.', answer the user's query.
What is the biomedical concept corresponding to 'childhood cerebral ald'?
[ "x ald", "x-ald", "ald (adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "x-ald (x-linked adrenoleukodystrophy)" ]
[ "progressive neuronal degeneration of childhood with liver disease", "saturine encephalopathy, childhood", "alcohol related neurodevelopmental disorder", "neuronal degeneration of childhood with liver disease, progressive (diffuse cerebral sclerosis of schilder)", "aldolase a deficiency", "aldoa deficienc...
Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', answer the user's query.
What is the biomedical concept corresponding to 'cerebral ald'?
[ "ald (adrenoleukodystrophy)", "x ald", "x-ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)" ]
[ "deficiency, aldob", "aldob deficiency", "deficiencies, aldob", "aldob deficiencies", "aldoa deficiency", "aldolase a deficiency", "deficiency, aldolase b", "alexander's disease", "aldolase b deficiency", "aldolase b deficiencies" ]
Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', answer the user's query.
What is the biomedical concept corresponding to 'adrenomyeloneuropathy'?
[ "adrenomyeloneuropathy", "adrenoleukodystrophy", "ald (adrenoleukodystrophy)", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "adrenomyodystrophy", "adrenogenital syndromes", "adrenogenital syndrome", "syndrome, adrenogenital", "syndromes, adrenogenital", "neonatal adrenoleukodystrophies", "adrenoleukodystrophies, neonatal", "adrenoleukodystrophy, autosomal neonatal", "adrenoleukodystrophy, neonatal", "adrenoleukodystrop...
Given the context 'The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy.', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes.', answer the user's query.
What is the biomedical concept corresponding to 'cerebral ald'?
[ "ald (adrenoleukodystrophy)", "x ald", "x-ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)" ]
[ "deficiency, aldob", "aldob deficiency", "deficiencies, aldob", "aldob deficiencies", "aldoa deficiency", "aldolase a deficiency", "deficiency, aldolase b", "alexander's disease", "aldolase b deficiency", "aldolase b deficiencies" ]
Given the context 'RESULTS Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements.', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the ALD gene.', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD..', answer the user's query.
What is the biomedical concept corresponding to 'ald'?
[ "ald (adrenoleukodystrophy)", "x-ald", "x ald", "x-ald (x-linked adrenoleukodystrophy)", "x ald (x linked adrenoleukodystrophy)", "adrenoleukodystrophy", "adrenoleukodystrophy, x-linked", "x-linked adrenoleukodystrophy", "x linked adrenoleukodystrophy" ]
[ "deficiency, aldob", "aldob deficiencies", "aldob deficiency", "aldoa deficiency", "deficiencies, aldob", "aldolase a deficiency", "deficiency, aldolase b", "aldolase b deficiency", "aldolase b deficiencies", "deficiencies, aldolase b" ]
Given the context 'CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD..', answer the user's query.
What is the biomedical concept corresponding to 'absence of the seventh component of complement'?
[ "complement component 7 deficiency", "c7d (complement component 7 deficiency)", "c7 deficiency" ]
[ "c5 deficiency", "complement component 6 deficiency", "deficiency, factor seven", "deficiency, factor 7", "factor seven deficiency", "factor 7 deficiency", "complement component 5 deficiency", "deficiencies, factor seven", "factor seven deficiencies", "complement component 8b deficiency" ]
Given the context 'Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. ', 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 'Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. ', answer the user's query.
What is the biomedical concept corresponding to 'vasculitis'?
[ "vasculitis", "vasculitides", "angiitis", "angiitides" ]
[ "systemic vasculitis", "vasculitis, systemic", "cutaneous vasculitis", "vasculitis, cutaneous", "systemic vasculitides", "vasculitides, systemic", "vasculitis, hemorrhagic", "cutaneous vasculitides", "vasculitis, hypersensitivity", "hypersensitivity vasculitis" ]
Given the context 'Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. ', answer the user's query.
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