query stringlengths 53 125 | positive listlengths 1 10 | negative listlengths 1 10 | system stringlengths 59 748 |
|---|---|---|---|
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 'Molecular deletions involving the CHM gene have been detected in three families.', 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 'Our findings provide additional evidence for the pathogenetic role of CHM mutations and provide a diagnostic tool for one fifth of the worlds known CHM patients..', 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 'Our findings provide additional evidence for the pathogenetic role of CHM mutations and provide a diagnostic tool for one fifth of the worlds known CHM patients..', 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 'X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
', 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 'X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
', 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 'X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
', answer the user's query. |
What is the biomedical concept corresponding to 'adrenoleukodystrophy'? | [
"adrenoleukodystrophy",
"ald (adrenoleukodystrophy)",
"adrenoleukodystrophy, x-linked",
"x-linked adrenoleukodystrophy",
"x linked adrenoleukodystrophy",
"x-ald (x-linked adrenoleukodystrophy)",
"adrenomyeloneuropathy",
"x ald (x linked adrenoleukodystrophy)",
"x-ald"
] | [
"adrenoleukodystrophy, autosomal neonatal form",
"adrenoleukodystrophy, neonatal",
"adrenoleukodystrophy, autosomal neonatal",
"neonatal adrenoleukodystrophy",
"adrenoleukodystrophy, autosomal, neonatal form",
"neonatal adrenoleukodystrophies",
"adrenoleukodystrophies, neonatal",
"adrenomyodystrophy",... | Given the context 'Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.', 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 'Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.', answer the user's query. |
What is the biomedical concept corresponding to 'adolescent ald'? | [
"x ald",
"x-ald",
"ald (adrenoleukodystrophy)",
"x ald (x linked adrenoleukodystrophy)",
"x-ald (x-linked adrenoleukodystrophy)"
] | [
"aldob deficiency",
"aldob deficiencies",
"aldoa deficiency",
"deficiency, aldob",
"deficiencies, aldob",
"alcohol related neurodevelopmental disorder",
"neonatal adrenoleukodystrophy",
"adrenoleukodystrophy, autosomal neonatal",
"adrenoleukodystrophy, neonatal",
"neonatal adrenoleukodystrophies"
... | Given the context 'Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.', 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 'Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine.', 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 'Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in ... |
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 'Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in ... |
What is the biomedical concept corresponding to 'addison only'? | [
"addisons disease",
"addison disease",
"addison's disease",
"disease, addison",
"primary hypoadrenalism",
"hypoadrenalism, primary",
"adrenal insufficiency, primary",
"primary adrenal insufficiency",
"hypoadrenalisms, primary"
] | [
"addison disease, x-linked",
"x-linked addison disease",
"addison disease, x linked",
"familial x-linked addison disease",
"familial x linked addison disease",
"addison disease, congenital",
"addison disease and cerebral sclerosis",
"schilder addison complex",
"schilder-addison complex",
"addh (at... | Given the context 'Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in ... |
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 'Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in ... |
What is the biomedical concept corresponding to 'von hippel-lindau disease'? | [
"von hippel-lindau disease",
"von hippel lindau disease",
"von hippel-lindau syndrome",
"hippel-lindau disease",
"von hippel lindau syndrome",
"hippel lindau disease",
"vhls (von hippel-lindau disease)",
"vhl syndromes",
"vhl syndrome",
"lindau disease"
] | [
"taybi-linder syndrome",
"taybi linder syndrome",
"syndrome, lynch",
"disease, wilhelmsen-lynch",
"diseases, wilhelmsen-lynch",
"wilhelmsen-lynch diseases"
] | Given the context 'Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
', answer the user's query. |
What is the biomedical concept corresponding to 'sporadic cerebellar haemangioblastoma'? | [
"hemangioblastomas, multiple"
] | [
"angiomatosis, familial cerebello-retinal",
"cerebello-retinal angiomatosis, familial",
"familial cerebello-retinal angiomatosis",
"familial cerebello retinal angiomatosis",
"angiomatoses, familial cerebello-retinal",
"cerebello-retinal angiomatoses, familial",
"familial cerebello-retinal angiomatoses",... | Given the context 'Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
', answer the user's query. |
What is the biomedical concept corresponding to 'hereditary tumours'? | [
"neoplastic syndrome, hereditary",
"neoplastic syndromes, hereditary",
"hereditary neoplastic syndrome",
"syndrome, hereditary neoplastic",
"hereditary neoplastic syndromes",
"syndromes, hereditary neoplastic",
"cancer syndrome, hereditary",
"cancer syndromes, hereditary",
"syndrome, hereditary canc... | [
"tumorigenesis",
"tumorigeneses",
"tumors",
"carcinogenesis",
"hereditary disease",
"disease, hereditary",
"neoplasms",
"neoplasms, metachronous"
] | Given the context 'Analysis of the age incidence curves for unilateral and bilateral retinoblastoma led Knudson to propose that hereditary tumours may arise by a single event and sporadic tumours by a two stage mutation process.', answer the user's query. |
What is the biomedical concept corresponding to 'sporadic renal cell carcinoma'? | [
"renal cell carcinoma, nonpapillary",
"renal cell carcinoma",
"rcc (carcinoma, renal cell)",
"renal cell adenocarcinoma",
"renal adenocarcinoma",
"papillary renal cell carcinoma",
"renal cell carcinoma, papillary",
"renal cell carcinomas",
"renal cell cancer",
"renal carcinoma"
] | [
"papillary renal cell carcinoma, sporadic",
"familial renal cell carcinoma",
"familial renal carcinoma",
"papillary renal cell carcinoma, familial"
] | Given the context 'It has been suggested recently that sporadic renal cell carcinoma may arise from a two stage mutation process.', answer the user's query. |
What is the biomedical concept corresponding to 'von hippel-lindau (vhl) disease'? | [
"vhls (von hippel-lindau disease)",
"von hippel-lindau disease",
"von hippel lindau disease",
"von hippel-lindau syndrome",
"hippel-lindau disease",
"von hippel lindau syndrome",
"vhl syndromes",
"vhl syndrome",
"hippel lindau disease",
"vhl von hippel-lindau syndrome, modifiers of, included"
] | [
"polycythemia, vhl-dependent",
"pheochromocytoma/paraganglioma syndrome 1",
"familial pheochromocytoma",
"syndromes, hboc",
"disease, wilhelmsen-lynch",
"taybi linder syndrome"
] | Given the context 'We analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangiobla... |
What is the biomedical concept corresponding to 'sporadic renal cell carcinoma'? | [
"renal cell carcinoma, nonpapillary",
"renal cell carcinoma",
"rcc (carcinoma, renal cell)",
"renal cell adenocarcinoma",
"renal adenocarcinoma",
"papillary renal cell carcinoma",
"renal cell carcinoma, papillary",
"renal cell carcinomas",
"renal cell cancer",
"renal carcinoma"
] | [
"papillary renal cell carcinoma, sporadic",
"familial renal cell carcinoma",
"familial renal carcinoma",
"papillary renal cell carcinoma, familial"
] | Given the context 'We analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangiobla... |
What is the biomedical concept corresponding to 'sporadic cerebellar haemangioblastoma'? | [
"hemangioblastomas, multiple"
] | [
"angiomatosis, familial cerebello-retinal",
"cerebello-retinal angiomatosis, familial",
"familial cerebello-retinal angiomatosis",
"familial cerebello retinal angiomatosis",
"angiomatoses, familial cerebello-retinal",
"cerebello-retinal angiomatoses, familial",
"familial cerebello-retinal angiomatoses",... | Given the context 'We analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangiobla... |
What is the biomedical concept corresponding to 'vhl disease'? | [
"vhl syndrome",
"vhl syndromes",
"vhls (von hippel-lindau disease)",
"von hippel-lindau disease",
"von hippel lindau disease",
"hippel-lindau disease",
"von hippel-lindau syndrome",
"hippel lindau disease",
"von hippel lindau syndrome",
"vhl von hippel-lindau syndrome, modifiers of, included"
] | [
"polycythemia, vhl-dependent",
"pheochromocytoma/paraganglioma syndrome 1",
"pheochromocytoma/paraganglioma syndrome 2",
"familial pheochromocytoma",
"pheochromocytoma/paraganglioma syndrome 3",
"syndrome, parkes weber"
] | Given the context 'The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process.', answer the user... |
What is the biomedical concept corresponding to 'sporadic renal cell carcinoma'? | [
"renal cell carcinoma, nonpapillary",
"renal cell carcinoma",
"rcc (carcinoma, renal cell)",
"renal cell adenocarcinoma",
"renal adenocarcinoma",
"papillary renal cell carcinoma",
"renal cell carcinoma, papillary",
"renal cell carcinomas",
"renal cell cancer",
"renal carcinoma"
] | [
"papillary renal cell carcinoma, sporadic",
"familial renal cell carcinoma",
"familial renal carcinoma",
"papillary renal cell carcinoma, familial"
] | Given the context 'The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process.', answer the user... |
What is the biomedical concept corresponding to 'vhl'? | [
"vhl syndrome",
"vhls (von hippel-lindau disease)",
"vhl syndromes",
"von hippel-lindau disease",
"von hippel lindau disease",
"von hippel-lindau syndrome",
"von hippel lindau syndrome",
"vhl von hippel-lindau syndrome, modifiers of, included",
"hippel-lindau disease",
"hippel lindau disease"
] | [
"polycythemia, vhl-dependent",
"pheochromocytoma/paraganglioma syndrome 1",
"pheochromocytoma/paraganglioma syndrome 2",
"disease, wilhelmsen-lynch",
"pheochromocytoma/paraganglioma syndrome 5",
"pheochromocytoma/paraganglioma syndrome 3",
"pvnh1",
"hereditary renal cancer associated 1"
] | Given the context 'These data are compatible with the VHL gene functioning as a recessive tumour suppressor gene.', 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 'These data are compatible with the VHL gene functioning as a recessive tumour suppressor gene.', answer the user's query. |
What is the biomedical concept corresponding to 'sporadic cerebellar haemangioblastoma'? | [
"hemangioblastomas, multiple"
] | [
"angiomatosis, familial cerebello-retinal",
"cerebello-retinal angiomatosis, familial",
"familial cerebello-retinal angiomatosis",
"familial cerebello retinal angiomatosis",
"angiomatoses, familial cerebello-retinal",
"cerebello-retinal angiomatoses, familial",
"familial cerebello-retinal angiomatoses",... | Given the context 'Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus..', answer the user's query. |
What is the biomedical concept corresponding to 'vhl'? | [
"vhl syndrome",
"vhls (von hippel-lindau disease)",
"vhl syndromes",
"von hippel-lindau disease",
"von hippel lindau disease",
"von hippel-lindau syndrome",
"von hippel lindau syndrome",
"vhl von hippel-lindau syndrome, modifiers of, included",
"hippel-lindau disease",
"hippel lindau disease"
] | [
"polycythemia, vhl-dependent",
"pheochromocytoma/paraganglioma syndrome 1",
"pheochromocytoma/paraganglioma syndrome 2",
"disease, wilhelmsen-lynch",
"pheochromocytoma/paraganglioma syndrome 5",
"pheochromocytoma/paraganglioma syndrome 3",
"pvnh1",
"hereditary renal cancer associated 1"
] | Given the context 'Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus..', answer the user's query. |
What is the biomedical concept corresponding to 'lowe syndrome'? | [
"lowe syndrome",
"lowe disease",
"oculocerebrorenal syndrome of lowe",
"lowe bickel syndrome",
"lowe oculocerebrorenal syndrome",
"lowe-bickel syndrome",
"lowe-terrey-maclachlan syndrome",
"lowe terrey maclachlan syndrome"
] | [
"lown ganong levine syndrome",
"lown-ganong-levine syndrome",
"syndrome, lown-ganong-levine",
"lowry-maclean syndrome",
"lowry maclean syndrome",
"lowry-wood syndrome",
"lowry wood syndrome",
"downs syndrome",
"coffin lowry syndrome",
"chudley-lowry syndrome"
] | Given the context 'Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
', answer the user's query. |
What is the biomedical concept corresponding to 'oculocerebrorenal syndrome of lowe'? | [
"oculocerebrorenal syndrome of lowe",
"lowe oculocerebrorenal syndrome",
"oculocerebrorenal syndrome",
"ocrl (oculocerebrorenal syndrome)",
"renal oculocerebrodystrophy",
"oculocerebrorenal dystrophy",
"renal-oculocerebrodystrophy",
"dystrophy, oculocerebrorenal",
"lowe syndrome"
] | [
"oculocerebrocutaneous syndrome",
"syndrome, oculocraniosomatic",
"oculootoradial syndrome",
"oculocraniosomatic syndrome",
"oculorenocerebellar syndrome",
"oculocerebral syndrome with hypopigmentation",
"oculocraniosomatic syndromes",
"oculoosteocutaneous syndrome",
"oculootodental syndrome",
"oc... | Given the context 'The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.', answer the user's query. |
What is the biomedical concept corresponding to 'ocrl'? | [
"ocrl1",
"ocrl (oculocerebrorenal syndrome)",
"lowe oculocerebrorenal syndrome",
"renal oculocerebrodystrophy"
] | [
"microphthalmos, autosomal recessive",
"optb8",
"optb7",
"microphthalmia, isolated 3, formerly",
"microphthalmia, colobomatous, 2",
"mccrp2",
"microphthalmia, isolated 3",
"microphthalmia, syndromic 4, formerly",
"microphthalmia, isolated 4",
"oculocraniosomatic syndrome"
] | Given the context 'The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.', answer the user's query. |
What is the biomedical concept corresponding to 'x-linked disorder'? | [
"x-linked genetic disease",
"genetic disease, x-linked",
"x-linked genetic diseases",
"genetic diseases, x-linked",
"disease, x-linked genetic",
"genetic diseases, x linked",
"x linked genetic diseases",
"diseases, x-linked genetic",
"genetic diseases, x chromosome linked",
"genetic diseases, x-ch... | [
"genetic diseases, x-linkeds",
"syndrome x, dysmetabolic",
"x linked mental retardation disorders",
"dysmetabolic syndrome x",
"x-linked mental retardation disorders",
"monosomy x",
"x linked mental retardation syndromes",
"syndrome, marker x",
"syndromes, marker x",
"x-linked mental retardation s... | Given the context 'The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.', answer the user's query. |
What is the biomedical concept corresponding to 'ocrl'? | [
"ocrl1",
"ocrl (oculocerebrorenal syndrome)",
"lowe oculocerebrorenal syndrome",
"renal oculocerebrodystrophy"
] | [
"microphthalmos, autosomal recessive",
"optb8",
"optb7",
"microphthalmia, isolated 3, formerly",
"microphthalmia, colobomatous, 2",
"mccrp2",
"microphthalmia, isolated 3",
"microphthalmia, syndromic 4, formerly",
"microphthalmia, isolated 4",
"oculocraniosomatic syndrome"
] | Given the context 'We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion.', answer the user's query. |
What is the biomedical concept corresponding to 'lowe syndrome'? | [
"lowe syndrome",
"lowe disease",
"oculocerebrorenal syndrome of lowe",
"lowe bickel syndrome",
"lowe oculocerebrorenal syndrome",
"lowe-bickel syndrome",
"lowe-terrey-maclachlan syndrome",
"lowe terrey maclachlan syndrome"
] | [
"lown ganong levine syndrome",
"lown-ganong-levine syndrome",
"syndrome, lown-ganong-levine",
"lowry-maclean syndrome",
"lowry maclean syndrome",
"lowry-wood syndrome",
"lowry wood syndrome",
"downs syndrome",
"coffin lowry syndrome",
"chudley-lowry syndrome"
] | Given the context 'This observation has direct implications for genetic counseling of Lowe syndrome families..', answer the user's query. |
What is the biomedical concept corresponding to 'duchenne muscular dystrophy'? | [
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"muscular dystrophy, duchenne",
"dmd (muscular dystrophy, duchenne)",
"progressive muscular dystrophy, duchenne type",
"duchenne type progressive muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"bmd (muscular dyst... | [
"muscular dystrophy, duchenne-like",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy",
"distal muscular dystrophy",
"dystrophy, muscular",
"duchenne-like autosomal recessive muscular dystrophy, type 2"
] | Given the context 'Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice.
Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, leading to the absence of the dystrophin protein in striated muscle.', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice.
Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, leading to the absence of the dystrophin protein in striated muscle.', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'On the basis of the observation that aminoglycoside treatment can suppress stop codons in cultured cells, we tested the effect of gentamicin on cultured muscle cells from the mdx mouse - an animal model for DMD that possesses a premature stop codon in the dystrophin gene.', answer the user's query. |
What is the biomedical concept corresponding to 'muscular injury'? | [
"injuries",
"injury"
] | [
"injury, tendon",
"tendon injury",
"pareses, muscular",
"muscular diseases",
"injuries, tendon",
"muscular disease",
"tendon injuries",
"myotoxicities",
"muscular pareses",
"muscle disorders"
] | Given the context 'We identified a treatment regimen that resulted in the presence of dystrophin in the cell membrane in all striated muscles examined and that provided functional protection against muscular injury.', answer the user's query. |
What is the biomedical concept corresponding to 'muscular dystrophy'? | [
"muscular dystrophy",
"dystrophy, muscular",
"muscular dystrophies",
"dystrophies, muscular"
] | [
"dmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne",
"muscular dystrophy, animal",
"muscular dystrophy, duchenne type",
"distal muscular dystrophy",
"bmd (muscular dystrophy, duchenne)",
"muscular dystrophy, duchenne-like",
"animal muscular dystrophy",... | Given the context 'Furthermore, these results raise the possibility of a novel treatment regimen for muscular dystrophy and other diseases caused by premature stop codon mutations.', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'This treatment could prove effective in up to 15% of patients with DMD..', answer the user's query. |
What is the biomedical concept corresponding to 'metabolic disorder'? | [
"metabolic diseases",
"diseases, metabolic",
"metabolic disease",
"disease, metabolic"
] | [
"syndromes, metabolic",
"metabolic syndromes",
"disorder, glucose metabolic",
"disorders, glucose metabolic",
"glucose metabolic disorder",
"disorders, glucose metabolism",
"glucose metabolic disorders",
"disorder, glucose metabolism",
"glucose metabolism disorder",
"glucose metabolism disorders"
... | Given the context 'Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.
', answer the user's query. |
What is the biomedical concept corresponding to 'normotriglyceridemic abetalipoproteinemia'? | [
"abetalipoproteinemia",
"abl (abetalipoproteinemia)",
"disease, betalipoprotein deficiency",
"betalipoprotein deficiency disease",
"deficiency disease, betalipoprotein",
"diseases, betalipoprotein deficiency",
"deficiency diseases, betalipoprotein",
"betalipoprotein deficiency diseases"
] | [
"hypobetalipoproteinemia, normotriglyceridemic",
"hypobetalipoproteinemia, familial, apolipoprotein b",
"abetalipoproteinemia, normotriglyceridemic, steinbert type",
"familial dysbetalipoproteinemia",
"familial hypobetalipoproteinemia",
"floating-betalipoproteinemia",
"dysbetalipoproteinemia, familial",... | Given the context 'Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.
', answer the user's query. |
What is the biomedical concept corresponding to 'normotriglyceridemic abetalipoproteinemia'? | [
"abetalipoproteinemia",
"abl (abetalipoproteinemia)",
"disease, betalipoprotein deficiency",
"betalipoprotein deficiency disease",
"deficiency disease, betalipoprotein",
"diseases, betalipoprotein deficiency",
"deficiency diseases, betalipoprotein",
"betalipoprotein deficiency diseases"
] | [
"hypobetalipoproteinemia, normotriglyceridemic",
"hypobetalipoproteinemia, familial, apolipoprotein b",
"abetalipoproteinemia, normotriglyceridemic, steinbert type",
"familial dysbetalipoproteinemia",
"familial hypobetalipoproteinemia",
"floating-betalipoproteinemia",
"dysbetalipoproteinemia, familial",... | Given the context 'We have previously described a disorder, normotriglyceridemic abetalipoproteinemia, that is characterized by the virtual absence of plasma low density lipoproteins and complete absence of apoB-100, but with apparently normal secretion of triglyceride-rich lipoproteins containing apoB-48.', answer the... |
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 'Thus, this is a rare example of homozygous hypobetalipoproteinemia.', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand disease type b'? | [
"von willebrand disease, recessive form"
] | [
"von willebrand disease, type ii",
"von willebrand disease, type iib",
"von willebrand disease, type 2",
"von willebrand disease, type 2b",
"type ii von willebrand disease",
"type iib von willebrand disease",
"type 2b von willebrand disease",
"type 2 von willebrand disease",
"von willebrand disease,... | Given the context 'von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand'? | [
"von willebrand's disease",
"von willebrand disease",
"von willebrand disorder",
"disorder, von willebrand",
"von willebrand diseases",
"von willebrand's diseases",
"von willebrand's factor deficiency",
"von willebrand disease, recessive form"
] | [
"pseudo-von willebrand disease",
"von willebrand disease, platelet type",
"von willebrand disease, platelet-type",
"von willebrand disease, type i",
"von willebrand disease, type 1",
"platelet-type von willebrand disease",
"von willebrand disease, type iii",
"von willebrand disease, type ii",
"vwd1 ... | Given the context 'von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand'? | [
"von willebrand's disease",
"von willebrand disease",
"von willebrand disorder",
"disorder, von willebrand",
"von willebrand diseases",
"von willebrand's diseases",
"von willebrand's factor deficiency",
"von willebrand disease, recessive form"
] | [
"pseudo-von willebrand disease",
"von willebrand disease, platelet type",
"von willebrand disease, platelet-type",
"von willebrand disease, type i",
"von willebrand disease, type 1",
"platelet-type von willebrand disease",
"von willebrand disease, type iii",
"von willebrand disease, type ii",
"vwd1 ... | Given the context 'Ib.
von Willebrand factor (vWF) is a multimeric glycoprotein that mediates the adhesion of platelets to the subendothelium by binding to platelet glycoprotein Ib.', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand disease type b'? | [
"von willebrand disease, recessive form"
] | [
"von willebrand disease, type ii",
"von willebrand disease, type iib",
"von willebrand disease, type 2",
"von willebrand disease, type 2b",
"type ii von willebrand disease",
"type iib von willebrand disease",
"type 2b von willebrand disease",
"type 2 von willebrand disease",
"von willebrand disease,... | Given the context 'A missense mutation, Gly-561-- > Ser, was identified within the proposed glycoprotein Ib binding domain of vWF in the proband with von Willebrand disease type B, a unique variant characterized by no ristocetin-induced, but normal botrocetin-induced, binding to glycoprotein Ib.', answer the user's que... |
What is the biomedical concept corresponding to 'von willebrand disease type b'? | [
"von willebrand disease, recessive form"
] | [
"von willebrand disease, type ii",
"von willebrand disease, type iib",
"von willebrand disease, type 2",
"von willebrand disease, type 2b",
"type ii von willebrand disease",
"type iib von willebrand disease",
"type 2b von willebrand disease",
"type 2 von willebrand disease",
"von willebrand disease,... | Given the context 'The corresponding mutant recombinant protein, rvWF (G561S), formed normal multimers and exhibited the same functional defect as the patients plasma vWF, confirming that this mutation causes von Willebrand disease type B.', answer the user's query. |
What is the biomedical concept corresponding to 'von willebrand disease type b'? | [
"von willebrand disease, recessive form"
] | [
"von willebrand disease, type ii",
"von willebrand disease, type iib",
"von willebrand disease, type 2",
"von willebrand disease, type 2b",
"type ii von willebrand disease",
"type iib von willebrand disease",
"type 2b von willebrand disease",
"type 2 von willebrand disease",
"von willebrand disease,... | Given the context 'The normal botrocetin-induced binding and the defective ristocetin-induced binding of rvWF (G561S) suggest that the primary defect in von Willebrand disease type B may be a failure of normal allosteric regulation of the glycoprotein Ib binding function of vWF..', answer the user's query. |
What is the biomedical concept corresponding to 'breast-ovarian cancer'? | [
"hereditary breast and ovarian cancer syndrome"
] | [
"ovarian cancer",
"cancer, ovarian",
"ovarian cancers",
"cancers, ovarian",
"ovary cancer",
"ovary cancers",
"breast cancer",
"cancer, ovary",
"cancers, ovary",
"cancer, breast"
] | Given the context 'A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
', answer the user's query. |
What is the biomedical concept corresponding to 'breast-ovarian cancer'? | [
"hereditary breast and ovarian cancer syndrome"
] | [
"ovarian cancer",
"cancer, ovarian",
"ovarian cancers",
"cancers, ovarian",
"ovary cancer",
"ovary cancers",
"breast cancer",
"cancer, ovary",
"cancers, ovary",
"cancer, breast"
] | Given the context 'We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene.', answer the user's query. |
What is the biomedical concept corresponding to 'breast and ovarian cancer'? | [
"hereditary breast and ovarian cancer syndrome"
] | [
"breast cancer",
"cancer, breast",
"cancer of breast",
"ovarian cancer",
"cancer of the breast",
"ovarian cancers",
"cancer, ovarian",
"ovary cancers",
"ovary cancer",
"cancers, ovarian"
] | Given the context 'BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.', answer the user's query. |
What is the biomedical concept corresponding to 'male breast cancer'? | [
"male breast cancer",
"cancer, male breast",
"breast cancer, male",
"breast carcinoma, male",
"male breast carcinoma",
"carcinoma, male breast",
"breast tumors, male",
"breast tumor, male",
"male breast tumor",
"breast neoplasms, male"
] | [
"breast cancer, familial male"
] | Given the context 'BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.', answer the user's query. |
What is the biomedical concept corresponding to 'breast-ovarian syndrome'? | [
"hereditary breast and ovarian cancer syndrome"
] | [
"ovarian dysgenesis with sensorineural deafness",
"bpes with ovarian failure",
"limb-mammary syndrome",
"ovarioleukodystrophy",
"gynecomastia, familial",
"endocrine breast disease",
"gynecomastia, hereditary",
"ovarian failure, hypergonadotropic, due to ovarian dysgenesis",
"aromatase excess syndrom... | Given the context 'It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1..', answer the user's query. |
What is the biomedical concept corresponding to 'autosomal recessive disease glucose/galactose malabsorption'? | [
"glucose/galactose malabsorption",
"glucose-galactose malabsorption",
"glucose galactose malabsorption",
"ggm (glucose-galactose malabsorption)",
"gm (glucose-galactose malabsorption)"
] | [
"fructose and galactose intolerance",
"sucrose-isomaltose malabsorption, congenital",
"acid maltase deficiency disease",
"acid maltase deficiency",
"acid maltase deficiencies",
"congenital sucrose-isomaltose malabsorption",
"sucrose-isomaltase malabsorption, congenital",
"disaccharide intolerance i",
... | Given the context 'In two patients with the autosomal recessive disease glucose/galactose malabsorption, the underlying cause was found to be a missense mutation in SGLT1, and the Asp28-- > Asn change was demonstrated in vitro to eliminate SGLT1 transport activity.', answer the user's query. |
What is the biomedical concept corresponding to 'genetic diseases'? | [
"genetic diseases",
"diseases, genetic",
"genetic disease",
"disease, genetic",
"genetic disorders",
"disorders, genetic",
"genetic disorder",
"disorder, genetic",
"inborn genetic diseases",
"diseases, inborn genetic"
] | [
"genetic predisposition to disease",
"genetic susceptibility"
] | Given the context '1, and provide an example of the utility of the SGLT1 probe as a diagnostic for genetic diseases associated with translocations of chromosome 22.', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs'? | [
"tay sachs disease",
"tay-sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay sachs disease, b variant",
"tay-sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"taybi syndrome",
"diseases, activator-deficient tay-sachs",
"disease, activator-deficient tay-sachs",
"tay-sachs disease, variant b1",
"tay-sachs disease, pseudo-ab variant",
"activator-deficient tay-sachs diseases",
"tay-sachs disease, activator-deficient",
"tay-sach... | Given the context 'A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease.', answer the user's query. |
What is the biomedical concept corresponding to 'deficiency of beta-hexosaminidase a'? | [
"deficiency, hexosaminidase a",
"deficiency disease hexosaminidase a",
"hexosaminidase a deficiency",
"hexosaminidase a deficiency disease",
"deficiency, hexosaminidase alpha-subunit (variant b)",
"hexosaminidase alpha subunit deficiency (variant b)",
"hexosaminidase alpha-subunit deficiency (variant b)... | [
"deficiency disease, hexosaminidase a and b",
"deficiency, beta-hexosaminidase-beta-subunit",
"hexosaminidase a and b deficiency disease",
"hexosaminidases a and b deficiency",
"beta-hexosaminidase-beta-subunit deficiency",
"beta hexosaminidase beta subunit deficiency",
"beta-hexosaminidase-beta-subunit... | Given the context 'A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease.', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease.', answer the user's query. |
What is the biomedical concept corresponding to 'deficient in hex a'? | [
"hexa deficiency",
"hexosaminidase a deficiency",
"hexosaminidase alpha subunit deficiency (variant b)",
"hexosaminidase alpha-subunit deficiency (variant b)",
"deficiency, hexosaminidase alpha-subunit (variant b)",
"hexosaminidase a deficiency disease",
"deficiency, hexosaminidase a",
"deficiency dis... | [
"hexosaminidases a and b deficiency",
"hexosaminidase a deficiency, adult type",
"hexosaminidase activator deficiency",
"hexosaminidase a and b deficiency disease",
"deficiency, hexosaminidase activator",
"hexosaminidase activator deficiencies",
"activator deficiency, hexosaminidase",
"deficiencies, h... | Given the context 'However, healthy subjects found to be deficient in Hex A activity (i. e., pseudodeficient) by means of in vitro biochemical tests have been described.', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group.', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'The C739-to-T allele, together with a " true " Tay-Sachs disease allele, causes Hex A pseudodeficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential.', answer the user's que... |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
', answer the user's query. |
What is the biomedical concept corresponding to 'tay-sachs disease'? | [
"tay-sachs disease",
"tay sachs disease",
"tsd (tay-sachs disease)",
"sphingolipidosis, tay-sachs",
"sphingolipidosis, tay sachs",
"tay-sachs sphingolipidosis",
"tay-sachs disease, b variant",
"tay sachs disease, b variant"
] | [
"tay-sachs disease, juvenile",
"disease, activator-deficient tay-sachs",
"diseases, activator-deficient tay-sachs",
"tay-sachs disease, activator-deficient",
"tay-sachs diseases, activator-deficient",
"tay-sachs disease, variant b1",
"activator deficient tay sachs disease",
"activator-deficient tay-sa... | Given the context 'A study was undertaken to characterize the mutation (s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations.', answer the user's query. |
What is the biomedical concept corresponding to 'tsd'? | [
"tsd (tay-sachs disease)"
] | [
"tsukahara syndrome",
"trichothiodystrophy with sun sensitivity",
"tdo syndrome",
"siddt",
"skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris",
"tpds1",
"sudden infant death with dysgenesis of the testes syndrome",
"dystonia-deafness syndrome 1",
"scdeds",
"spondyloepiph... | Given the context 'A study was undertaken to characterize the mutation (s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations.', answer the user's query. |
What is the biomedical concept corresponding to 'tsd'? | [
"tsd (tay-sachs disease)"
] | [
"tsukahara syndrome",
"trichothiodystrophy with sun sensitivity",
"tdo syndrome",
"siddt",
"skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris",
"tpds1",
"sudden infant death with dysgenesis of the testes syndrome",
"dystonia-deafness syndrome 1",
"scdeds",
"spondyloepiph... | Given the context 'Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes.', answer the user's query. |
What is the biomedical concept corresponding to 'tsd'? | [
"tsd (tay-sachs disease)"
] | [
"tsukahara syndrome",
"trichothiodystrophy with sun sensitivity",
"tdo syndrome",
"siddt",
"skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris",
"tpds1",
"sudden infant death with dysgenesis of the testes syndrome",
"dystonia-deafness syndrome 1",
"scdeds",
"spondyloepiph... | Given the context 'Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes.', answer the user's query. |
What is the biomedical concept corresponding to 'tsd'? | [
"tsd (tay-sachs disease)"
] | [
"tsukahara syndrome",
"trichothiodystrophy with sun sensitivity",
"tdo syndrome",
"siddt",
"skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris",
"tpds1",
"sudden infant death with dysgenesis of the testes syndrome",
"dystonia-deafness syndrome 1",
"scdeds",
"spondyloepiph... | Given the context 'To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers.', answer the user's query. |
What is the biomedical concept corresponding to 'spongy degeneration of the brain'? | [
"spongy degeneration of the brain",
"spongy degeneration of the central nervous system",
"spongy degeneration of central nervous system",
"leukodystrophy, spongiform",
"spongiform leukodystrophy",
"spongy disease of central nervous system",
"spongy disease of white matter",
"spongy degeneration of inf... | [
"encephalopathy, subacute spongiform",
"spongiform encephalopathy, subacute",
"subacute spongiform encephalopathy",
"encephalopathies, subacute spongiform",
"subacute spongiform encephalopathies",
"spongiform encephalopathies, subacute",
"spongiform encephalopathy with neuropsychiatric features",
"enc... | Given the context 'Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase (ASPA).', answer the user's query. |
What is the biomedical concept corresponding to 'leukodystrophy'? | [
"metachromatic leukodystrophy",
"metachromatic leukodystrophies",
"leukodystrophy, metachromatic",
"mld (leukodystrophy, metachromatic)",
"leukodystrophies, metachromatic",
"adult metachromatic leukodystrophy",
"leukodystrophy, adult metachromatic",
"adult metachromatic leukodystrophies",
"leukodyst... | [
"leukoencephalopathy",
"leukoencephalopathies",
"demyelinogenic leukodystrophy",
"neuroaxonal leukodystrophy",
"dysmyelinogenic leukodystrophy",
"spongiform leukodystrophy",
"leukoaraioses",
"leukodystrophy, spongiform",
"leukoaraiosis",
"krabbe's leukodystrophy"
] | Given the context 'Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase (ASPA).', answer the user's query. |
What is the biomedical concept corresponding to 'deficiency of aspartoacylase'? | [
"aspartoacylase deficiency",
"deficiency disease, aspartoacylase",
"asp deficiency",
"aspa deficiency"
] | [
"aspartylglycosaminurias",
"aspartylglycosaminuria",
"aspartyl-trna synthetase deficiency",
"deficiency, arginino succinase",
"deficiencies, arginino succinase",
"deficiency, aspartylglucosamidase",
"arginino succinase deficiency",
"arginino succinase deficiencies",
"deficiencies, aspartylglucosamid... | Given the context 'Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase (ASPA).', answer the user's query. |
What is the biomedical concept corresponding to 'adrenoleukodystrophy'? | [
"adrenoleukodystrophy",
"ald (adrenoleukodystrophy)",
"adrenoleukodystrophy, x-linked",
"x-linked adrenoleukodystrophy",
"x linked adrenoleukodystrophy",
"x-ald (x-linked adrenoleukodystrophy)",
"adrenomyeloneuropathy",
"x ald (x linked adrenoleukodystrophy)",
"x-ald"
] | [
"adrenoleukodystrophy, autosomal neonatal form",
"adrenoleukodystrophy, neonatal",
"adrenoleukodystrophy, autosomal neonatal",
"neonatal adrenoleukodystrophy",
"adrenoleukodystrophy, autosomal, neonatal form",
"neonatal adrenoleukodystrophies",
"adrenoleukodystrophies, neonatal",
"adrenomyodystrophy",... | Given the context 'Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical insufficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'adrenoleukodystrophy'? | [
"adrenoleukodystrophy",
"ald (adrenoleukodystrophy)",
"adrenoleukodystrophy, x-linked",
"x-linked adrenoleukodystrophy",
"x linked adrenoleukodystrophy",
"x-ald (x-linked adrenoleukodystrophy)",
"adrenomyeloneuropathy",
"x ald (x linked adrenoleukodystrophy)",
"x-ald"
] | [
"adrenoleukodystrophy, autosomal neonatal form",
"adrenoleukodystrophy, neonatal",
"adrenoleukodystrophy, autosomal neonatal",
"neonatal adrenoleukodystrophy",
"adrenoleukodystrophy, autosomal, neonatal form",
"neonatal adrenoleukodystrophies",
"adrenoleukodystrophies, neonatal",
"adrenomyodystrophy",... | Given the context 'Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical 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 'Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical insufficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'progressive central demyelination'? | [
"demyelination",
"demyelinations"
] | [
"myelinosis centralis diffusa",
"myelinosis centralis diffusas",
"centralis diffusa, myelinosis",
"diffusa, myelinosis centralis",
"diffusas, myelinosis centralis",
"sclerosis, myelinoclastic diffuse",
"pontine myelinolysis, central",
"central pontine myelinolysis",
"diffuse sclerosis, myelinoclasti... | Given the context 'Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical insufficiency.', answer the user's query. |
What is the biomedical concept corresponding to 'adrenal cortical insufficiency'? | [
"adrenal insufficiency",
"adrenal insufficiencies",
"adrenal gland hypofunction",
"hypofunction, adrenal gland"
] | [
"primary adrenal insufficiency",
"insufficiency, primary adrenocortical",
"primary adrenocortical insufficiency",
"adrenal insufficiency, primary",
"insufficiencies, primary adrenocortical",
"primary adrenocortical insufficiencies",
"adrenocortical insufficiency, primary",
"adrenal insufficiency, cong... | Given the context 'Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical 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 'This degradation normally takes place in a subcellular organelle called the peroxisome, and ALD, together with Zellwegers cerebrohepatorenal syndrome, is now considered to belong to the newly formed category of peroxisomal disorders.', answer the user's query. |
What is the biomedical concept corresponding to 'zellwegers cerebrohepatorenal syndrome'? | [
"zellweger syndrome",
"zellweger spectrum",
"zellweger-like syndrome",
"zellweger like syndrome",
"zellweger syndrome spectrum",
"zellweger's syndrome",
"spectrum, zellweger",
"peroxisome biogenesis disorders, zellweger syndrome spectrum",
"cerebrohepatorenal syndrome",
"zs (zellweger syndrome)"
] | [
"zellweger syndrome, variant types",
"pseudo-zellweger syndrome",
"zinsser cole engman syndrome",
"zechi-ceide syndrome",
"cerebrohepatorenal syndrome, variant types",
"fraser jequier chen syndrome"
] | Given the context 'This degradation normally takes place in a subcellular organelle called the peroxisome, and ALD, together with Zellwegers cerebrohepatorenal syndrome, is now considered to belong to the newly formed category of peroxisomal disorders.', answer the user's query. |
What is the biomedical concept corresponding to 'peroxisomal disorders'? | [
"peroxisomal disorders",
"peroxisomal disorder",
"dysfunctions, general peroxisomal",
"dysfunction, general peroxisomal",
"general peroxisomal dysfunctions",
"general peroxisomal dysfunction",
"peroxisomal dysfunctions, general",
"peroxisomal dysfunction, general",
"dysfunction, single peroxisomal",... | [
"peroxisome biogenesis disorders"
] | Given the context 'This degradation normally takes place in a subcellular organelle called the peroxisome, and ALD, together with Zellwegers cerebrohepatorenal syndrome, is now considered to belong to the newly formed category of peroxisomal disorders.', 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 have identified 303 patients with ALD in 217 kindreds.', 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 'Sixty percent of patients had childhood ALD and 17% adrenomyeloneuropathy, both of which are X-linked, with the gene mapped to Xq28.', 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 'Sixty percent of patients had childhood ALD and 17% adrenomyeloneuropathy, both of which are X-linked, with the gene mapped to Xq28.', answer the user's query. |
What is the biomedical concept corresponding to 'zellwegers syndrome'? | [
"zellweger syndrome",
"zellweger-like syndrome",
"zellweger's syndrome",
"zellweger spectrum",
"zellweger like syndrome",
"zellweger syndrome spectrum",
"spectrum, zellweger",
"zws (zellweger syndrome)",
"zellweger disease",
"zs (zellweger syndrome)"
] | [
"pseudo-zellweger syndrome",
"zellweger syndrome, variant types",
"cutis verticis gyrata, thyroaplasia and mental deficiency syndrome",
"zinsser cole engman syndrome",
"cutis verticis gyrata, thyroid aplasia, and mental retardation",
"williams beuren syndrome",
"pseudo zellweger syndrome leukodystrophy"... | Given the context 'Neonatal ALD, a distinct entity with autosomal recessive inheritance and points of resemblance to Zellwegers syndrome, accounted for 7% of the cases.', 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 'Although excess C26 0 in the brain of patients with ALD is partially of dietary origin, dietary C26 0 restriction did not produce clear benefit.', answer the user's query. |
What is the biomedical concept corresponding to 'mjd'? | [
"mjd (machado-joseph disease)",
"disease, machado-joseph",
"machado joseph disease",
"machado-joseph disease",
"joseph disease",
"disease, joseph",
"disease, machado-joseph azorean",
"machado-joseph azorean disease"
] | [
"mjds (majeed syndrome)",
"cjmg, formerly",
"myoclonus, hereditary, with progressive distal muscular atrophy (jankovic rivera syndrome)",
"mmdd (myopathy due to myoadenylate deaminase deficiency)",
"hereditary myoclonus and progressive distal muscular atrophy",
"muscle-eye-brain disease",
"mmd1 (miyoshi... | Given the context 'On the basis of a sperm typing study performed in patients of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis.', answer the user's query. |
What is the biomedical concept corresponding to 'mjd'? | [
"mjd (machado-joseph disease)",
"disease, machado-joseph",
"machado joseph disease",
"machado-joseph disease",
"joseph disease",
"disease, joseph",
"disease, machado-joseph azorean",
"machado-joseph azorean disease"
] | [
"mjds (majeed syndrome)",
"cjmg, formerly",
"myoclonus, hereditary, with progressive distal muscular atrophy (jankovic rivera syndrome)",
"mmdd (myopathy due to myoadenylate deaminase deficiency)",
"hereditary myoclonus and progressive distal muscular atrophy",
"muscle-eye-brain disease",
"mmd1 (miyoshi... | Given the context 'We performed a sperm typing study of five MJD patients of French descent and analysis of the pooled data shows a ratio of mutant to normal alleles of 379 436 (46. 5 53. 5%), which does not support meiotic segregation distortion.', answer the user's query. |
What is the biomedical concept corresponding to 'mjd'? | [
"mjd (machado-joseph disease)",
"disease, machado-joseph",
"machado joseph disease",
"machado-joseph disease",
"joseph disease",
"disease, joseph",
"disease, machado-joseph azorean",
"machado-joseph azorean disease"
] | [
"mjds (majeed syndrome)",
"cjmg, formerly",
"myoclonus, hereditary, with progressive distal muscular atrophy (jankovic rivera syndrome)",
"mmdd (myopathy due to myoadenylate deaminase deficiency)",
"hereditary myoclonus and progressive distal muscular atrophy",
"muscle-eye-brain disease",
"mmd1 (miyoshi... | Given the context 'However, analysis of the variance in repeat number in sperm from the French MJD patients overlapped significantly with the variance in repeat number observed in the C/C homozygous Japanese patients.', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
', answer the user's query. |
What is the biomedical concept corresponding to 'duchenne muscular dystrophy'? | [
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"muscular dystrophy, duchenne",
"dmd (muscular dystrophy, duchenne)",
"progressive muscular dystrophy, duchenne type",
"duchenne type progressive muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"bmd (muscular dyst... | [
"muscular dystrophy, duchenne-like",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy",
"distal muscular dystrophy",
"dystrophy, muscular",
"duchenne-like autosomal recessive muscular dystrophy, type 2"
] | Given the context 'The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product..', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product..', answer the user's query. |
What is the biomedical concept corresponding to 'dmd'? | [
"dmd (muscular dystrophy, duchenne)",
"bmd (muscular dystrophy, duchenne)",
"duchenne muscular dystrophy",
"muscular dystrophy, duchenne type",
"duchenne and becker muscular dystrophy",
"duchenne-type progressive muscular dystrophy",
"duchenne type progressive muscular dystrophy",
"duchenne-becker mus... | [
"distal muscular dystrophy",
"muscular dystrophy, distal",
"muscular dystrophy, distal, late-onset, autosomal recessive",
"duchenne-like muscular dystrophy, autosomal recessive, type 1",
"muscular dystrophy, distal, late-onset, autosomal dominant (distal myopathies)",
"muscular dystrophy, distal, late ons... | Given the context 'The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product..', answer the user's query. |
What is the biomedical concept corresponding to 'alkaptonuria'? | [
"alkaptonuria",
"aku (alkaptonuria)",
"alcaptonuria",
"alcaptonurias",
"homogentisic acid oxidase deficiency"
] | [
"alkaptonuric ochronosis",
"methacrylic aciduria",
"xanthurenic aciduria",
"3-methylcrotonylglycinuria",
"3 methylcrotonylglycinuria",
"mcc deficiency",
"hydroxykynureninuria",
"aarau disease",
"3-oxothiolase deficiency",
"deficiency, hydroxymethylbilane synthase"
] | Given the context 'The human gene for alkaptonuria (AKU) maps to chromosome 3q.
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.', answer the user's query. |
What is the biomedical concept corresponding to 'aku'? | [
"aku (alkaptonuria)"
] | [
"akesson syndrome",
"kuru",
"kuru, susceptibility to",
"akv (darier disease)",
"encephalopathy, kuru",
"oasthouse urine disease",
"ailjk",
"infection, rickettsia akari",
"aiadk",
"kuru encephalopathy"
] | Given the context 'The human gene for alkaptonuria (AKU) maps to chromosome 3q.
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.', answer the user's query. |
What is the biomedical concept corresponding to 'alkaptonuria'? | [
"alkaptonuria",
"aku (alkaptonuria)",
"alcaptonuria",
"alcaptonurias",
"homogentisic acid oxidase deficiency"
] | [
"alkaptonuric ochronosis",
"methacrylic aciduria",
"xanthurenic aciduria",
"3-methylcrotonylglycinuria",
"3 methylcrotonylglycinuria",
"mcc deficiency",
"hydroxykynureninuria",
"aarau disease",
"3-oxothiolase deficiency",
"deficiency, hydroxymethylbilane synthase"
] | Given the context 'The human gene for alkaptonuria (AKU) maps to chromosome 3q.
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.', answer the user's query. |
What is the biomedical concept corresponding to 'aku'? | [
"aku (alkaptonuria)"
] | [
"akesson syndrome",
"kuru",
"kuru, susceptibility to",
"akv (darier disease)",
"encephalopathy, kuru",
"oasthouse urine disease",
"ailjk",
"infection, rickettsia akari",
"aiadk",
"kuru encephalopathy"
] | Given the context 'The human gene for alkaptonuria (AKU) maps to chromosome 3q.
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.', answer the user's query. |
What is the biomedical concept corresponding to 'autosomal recessive disorder'? | [
"hereditary disease",
"disease, hereditary",
"diseases, hereditary",
"hereditary diseases",
"single-gene defect",
"single-gene defects",
"single gene defects",
"genetic disorder",
"defect, single-gene",
"defects, single-gene"
] | [
"autosomal dominant",
"orphan diseases",
"orphan disease",
"autosomal chromosome disorders",
"chromosome disorder, autosomal",
"disease, orphan",
"autosomal chromosome disorder",
"chromosome disorders, autosomal"
] | Given the context 'The human gene for alkaptonuria (AKU) maps to chromosome 3q.
Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity.', answer the user's query. |
What is the biomedical concept corresponding to 'ochronosis'? | [
"ochronosis",
"ochronoses"
] | [
"pseudo-ochronosis",
"exogenous ochronosis",
"ochronosis, hereditary",
"hereditary ochronosis",
"ocular ochronosis",
"ochoa syndrome",
"alkaptonuric ochronosis",
"caffey disease",
"disease, caffey",
"familial caffey's disease"
] | Given the context 'Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features.', answer the user's query. |
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