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[
{
"content": "<Instruct>: Given the context 'Interestingly, no family history of neurofibromatosis was detectable in any of them, which indicates that these are sporadic cases of NF-2, most likely due to a new mutational event.', select the correct biomedical concept corresponding to 'neurofibromatosis'. Answer... |
[
{
"content": "<Instruct>: Given the context 'Meningiomas and ependymomas were more common among the young patients; those who initially presented with acoustic neuromas were nearly a decade older.', select the correct biomedical concept corresponding to 'young'. Answer using one of the provided options.\n\n<Opt... |
[
{
"content": "<Instruct>: Given the context 'Case 1 was operated on for imperforate anus.', select the correct biomedical concept corresponding to 'imperforate anus'. Answer using one of the provided options.\n\n<Options>: A: abnormal anus morphology\nB: absent urethral opening (aka urethral atresia)\nC: atresi... |
[
{
"content": "<Instruct>: Given the context 'To investigate the possibility that the syndrome is caused by mutation in a tumor suppressor gene, we searched for loss of heterozygosity in 16 sporadic basal cell carcinomas, 2 hereditary basal cell carcinomas, and 1 hereditary ovarian fibroma and performed genetic ... |
[
{
"content": "<Instruct>: Given the context 'At the age of 6 years, he was diagnosed with NBCCS following his presentation with a large odontogenic keratocyst of the mandible, pits of the palms and soles and numerous BCCs in the area of the back and neck that had been irradiated previously for medulloblastoma.'... |
[
{
"content": "<Instruct>: Given the context 'Computerized axial tomographs of the brain demonstrating unilateral cerebellar atrophy in one patient constitute the first direct evidence of cerebellar abnormalities in this syndrome.', select the correct biomedical concept corresponding to 'cerebellar abnormalities... |
[
{
"content": "<Instruct>: Given the context 'Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger.', select the correct biomedical concept corresponding to 'shortening of the middle ph... |
[
{
"content": "<Instruct>: Given the context 'A young male infant was noted at birth to have bilateral cleft lip and palate, bilateral microphthalmos and ocular colobomata, and a dysplastic left kidney.', select the correct biomedical concept corresponding to 'bilateral cleft lip and palate'. Answer using one of... |
[
{
"content": "<Instruct>: Given the context 'A woman with the autosomal dominant syndrome of preauricular pits, cervical fistulae, and partial deafness gave birth to two children with preauricular pits and severe renal dysgenesis.', select the correct biomedical concept corresponding to 'preauricular pits'. Ans... |
[
{
"content": "<Instruct>: Given the context 'Thirty six children with typical features of Angelman's syndrome, including global developmental delay, ataxia, episodes of paroxysmal laughter, seizures, and microcephaly were studied.', select the correct biomedical concept corresponding to 'episodes of paroxysmal ... |
[
{
"content": "<Instruct>: Given the context 'The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and micrognathia in addition to classical ear, radial, and anal findings of TBS.', select the correct biomedical concept co... |
[
{
"content": "<Instruct>: Given the context 'We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation.', select the correct biomedical concept corresponding to 'hypotonia'. Answer using one of the provided options.\n\n<Options>: A: m... |
[
{
"content": "<Instruct>: Given the context 'To evaluate patients with multiple endocrine neoplasia type 1 (MEN 1) for cutaneous manifestations.\n\n', select the correct biomedical concept corresponding to 'neoplasia'. Answer using one of the provided options.\n\n<Options>: A: germ cell neoplasia\nB: neologism\... |
[
{
"content": "<Instruct>: Given the context 'Brachydactyly type A-1 (BDA1) was, in 1903, the first recorded example of a human anomaly with Mendelian autosomal dominant inheritance.', select the correct biomedical concept corresponding to 'Brachydactyly'. Answer using one of the provided options.\n\n<Options>: ... |
[
{
"content": "<Instruct>: Given the context 'Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike ... |
[
{
"content": "<Instruct>: Given the context 'Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, pa... |
[
{
"content": "<Instruct>: Given the context 'Anomalies of the semicircular canals and the incus with inculomalleolar fusion were shown when the patient was 3.5 years old.', select the correct biomedical concept corresponding to 'inculomalleolar fusion'. Answer using one of the provided options.\n\n<Options>: A:... |
[
{
"content": "<Instruct>: Given the context 'Clinical manifestations tend to have considerable intrafamilial and interfamilial variability.', select the correct biomedical concept corresponding to 'interfamilial variability'. Answer using one of the provided options.\n\n<Options>: A: highly variable severity (a... |
[
{
"content": "<Instruct>: Given the context 'Gorlin syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas.', select the correct biomedical concept corresponding to 'medulloblastomas'. Answer using one of the provided options.\n\n... |
[
{
"content": "<Instruct>: Given the context 'These data make autosomal recessive inheritance at a 15q11-13 locus very unlikely and support the hypothesis that familial AS is due to maternal transmission of a mutation within 15q11-13.', select the correct biomedical concept corresponding to 'autosomal recessive'... |
[
{
"content": "<Instruct>: Given the context 'Bilateral acoustic neurofibromatosis (BANF) is a genetic defect associated with multiple tumors of neural crest origin.', select the correct biomedical concept corresponding to 'neurofibromatosis'. Answer using one of the provided options.\n\n<Options>: A: multiple n... |
[
{
"content": "<Instruct>: Given the context 'Whenever multiple basal cell carcinomas plus the typical jaw lesions are found in a patient, the diagnosis is easy.', select the correct biomedical concept corresponding to 'basal cell carcinomas'. Answer using one of the provided options.\n\n<Options>: A: self-heali... |
[
{
"content": "<Instruct>: Given the context 'To study epilepsy and response to treatment in a series of patients with AS determined by deletion.\n\n', select the correct biomedical concept corresponding to 'epilepsy'. Answer using one of the provided options.\n\n<Options>: A: emotional seizure (aka focal emotio... |
[
{
"content": "<Instruct>: Given the context 'The association between ear and kidney anomalies is not usually due to an insult to the embryo.', select the correct biomedical concept corresponding to 'ear and kidney anomalies'. Answer using one of the provided options.\n\n<Options>: A: minor malformation of the a... |
[
{
"content": "<Instruct>: Given the context 'His mother had similar ophthalmological findings and milder facial anomalies which included abnormality of the philtrum and bilateral congenital nasolacrimal duct obstruction.', select the correct biomedical concept corresponding to 'bilateral congenital nasolacrimal... |
[
{
"content": "<Instruct>: Given the context 'The Gorlin (naevoid-basal-cell-carcinoma) syndrome is an autosomal dominant disorder characterised by multiple naevoid basal-cell carcinomas, recurrent odontogenic keratocysts, skeletal anomalies, intracranial calcification, and developmental malformations.', select ... |
[
{
"content": "<Instruct>: Given the context 'A pedigree of branchio-oto-renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child.', select the correct biomedical concept co... |
[
{
"content": "<Instruct>: Given the context 'Our findings suggest that some patients with clinical features of AS have hyperphagia and obesity with overgrowth, and that these features should not rule out a diagnosis of AS.', select the correct biomedical concept corresponding to 'hyperphagia'. Answer using one ... |
[
{
"content": "<Instruct>: Given the context 'Posterior subcapsular/capsular cataracts were found in 36 (80%) of the 45 affected individuals (four individuals were excluded from statistical analyses).', select the correct biomedical concept corresponding to 'Posterior subcapsular/capsular cataracts'. Answer usin... |
[
{
"content": "<Instruct>: Given the context 'Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait with complete penetrance and variable expressivity.', select the correct biomedical concept corresponding to 'Nevoid'. Answer using one of the provided o... |
[
{
"content": "<Instruct>: Given the context 'Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene cause the inherited disorder NF2 and are also common in malignant mesothelioma, which is not a characteristic feature of NF2.', select the correct biomedical concept corresponding to 'malignant mesothel... |
[
{
"content": "<Instruct>: Given the context 'The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contractures of the limbs.', select the correct biomedical concept corresponding to 'distal arthrogryposes'. Answer using one of the provided options.\n\n<Options>: A: hyper... |
[
{
"content": "<Instruct>: Given the context 'Multiple angiofibromas, collagenomas, lipomas, confetti-like hypopigmented macules and multiple gingival papules are cutaneous manifestations of MEN1 and should be looked for in both family members of patients with MEN1 and individuals with hyperparathyroidism of oth... |
[
{
"content": "<Instruct>: Given the context 'This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus.', select the correct biomedical concept corresponding to 'dominant'. Answer using one of the provided options.\n\n<Options>: A: typically de n... |
[
{
"content": "<Instruct>: Given the context 'Multiple angiofibromas, collagenomas, lipomas, confetti-like hypopigmented macules and multiple gingival papules are cutaneous manifestations of MEN1 and should be looked for in both family members of patients with MEN1 and individuals with hyperparathyroidism of oth... |
[
{
"content": "<Instruct>: Given the context 'Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome.', select the correct biomedical concept corresponding to 'voracious a... |
[
{
"content": "<Instruct>: Given the context 'However, a number of other clinical entities have also been associated with similar, if not identical, cytogenetic defects, arguing for clinical heterogeneity associated with abnormalities in this region of chromosome 15.', select the correct biomedical concept corre... |
[
{
"content": "<Instruct>: Given the context 'In familial cases, independent bilateral tumours are common, since the tumours result from a single event--loss of the normal genes--which can occur in any cell.', select the correct biomedical concept corresponding to 'tumours'. Answer using one of the provided opti... |
[
{
"content": "<Instruct>: Given the context 'Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, pa... |
[
{
"content": "<Instruct>: Given the context 'Virtually ubiquitous and possibly pathognomonic are the cervical/infra-auricular skin defects.', select the correct biomedical concept corresponding to 'cervical/infra-auricular skin defects'. Answer using one of the provided options.\n\n<Options>: A: redundant nucha... |
[
{
"content": "<Instruct>: Given the context 'Branchio-oto-renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, w... |
[
{
"content": "<Instruct>: Given the context 'We review 43 patients (15 new, 28 literature) with the branchio-oculo-facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies.', select the correct biomedical concept corresp... |
[
{
"content": "<Instruct>: Given the context 'We present an 11-year-old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bossing, downward slanting palpebral fissures, mandible prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5-S4, numero... |
[
{
"content": "<Instruct>: Given the context 'Both babies died neonatally of pulmonary hypoplasia.', select the correct biomedical concept corresponding to 'pulmonary hypoplasia'. Answer using one of the provided options.\n\n<Options>: A: bronchial cartilage hypoplasia (underdevelopment of the bronical cartilage... |
[
{
"content": "<Instruct>: Given the context 'It is inherited as an autosomal dominant trait, and is noted for its widely variable clinical phenotype both within and between families.', select the correct biomedical concept corresponding to 'dominant'. Answer using one of the provided options.\n\n<Options>: A: o... |
[
{
"content": "<Instruct>: Given the context 'BOF syndrome can display mild to severe craniofacial, auricular, oral, and ophthalmic anomalies.', select the correct biomedical concept corresponding to 'ophthalmic anomalies'. Answer using one of the provided options.\n\n<Options>: A: abnormality of eyeball size (a... |
[
{
"content": "<Instruct>: Given the context 'We identified truncating mutations in SALL1 and GLI3 in patients with limb malformation and studied the contribution of nonsense-mediated decay (NMD) to the expression of mutant mRNA in patient-derived fibroblasts.', select the correct biomedical concept correspondin... |
[
{
"content": "<Instruct>: Given the context 'In this case, the ophthalmic manifestations included lacrimal sac fistula, orbital dermoid cyst, iris pigment epithelial cyst, and combined hamartoma of the retina and retinal pigment epithelium.', select the correct biomedical concept corresponding to 'iris pigment ... |
[
{
"content": "<Instruct>: Given the context 'Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike ... |
[
{
"content": "<Instruct>: Given the context 'We consider that \"skin tag\"-like basal cell carcinomas in childhood may represent a marker for NBCCS.', select the correct biomedical concept corresponding to 'basal cell carcinomas'. Answer using one of the provided options.\n\n<Options>: A: acanthoma\nB: verrucae... |
[
{
"content": "<Instruct>: Given the context 'Differences in complexity of these phenotypes have been attributed to locus heterogeneity.', select the correct biomedical concept corresponding to 'heterogeneity'. Answer using one of the provided options.\n\n<Options>: A: highly variable phenotype and severity (aka... |
[
{
"content": "<Instruct>: Given the context 'Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter.', select the correct biomedical concept ... |
[
{
"content": "<Instruct>: Given the context 'Between the ages of 15 and 53 years, the patients had multiple central nervous system tumors of various types--mainly, bilateral acoustic neuromas.', select the correct biomedical concept corresponding to 'tumors'. Answer using one of the provided options.\n\n<Option... |
[
{
"content": "<Instruct>: Given the context 'To investigate the possibility that the syndrome is caused by mutation in a tumor suppressor gene, we searched for loss of heterozygosity in 16 sporadic basal cell carcinomas, 2 hereditary basal cell carcinomas, and 1 hereditary ovarian fibroma and performed genetic ... |
[
{
"content": "<Instruct>: Given the context 'Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss.', select the correct biomedical concept corresponding to 'sensorineural hearing loss'. Answer using one of the provided options.\... |
[
{
"content": "<Instruct>: Given the context 'Each has severe ulnar deviation of fingers and soft-tissue contractures of both hands; and each had bilateral clubfeet at birth.', select the correct biomedical concept corresponding to 'bilateral clubfeet'. Answer using one of the provided options.\n\n<Options>: A: ... |
[
{
"content": "<Instruct>: Given the context 'Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome characterized by the development of vestibular schwannomas and other tumors of the nervous system, including cranial and spinal meningiomas, schwannomas, and ependymomas.', select the correct biomedical... |
[
{
"content": "<Instruct>: Given the context 'Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC).', select the correct biomedical concept corresponding... |
[
{
"content": "<Instruct>: Given the context 'The phenotype varies from ear pits to profound hearing loss, branchial fistulae, and kidney agenesis.', select the correct biomedical concept corresponding to 'profound hearing loss'. Answer using one of the provided options.\n\n<Options>: A: deafness (aka hearing im... |
[
{
"content": "<Instruct>: Given the context 'Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples.', select the correct biomedical concept corresponding to 'tumour'. Answer using one of the provided options.\n\n<Options>: A: hamartoma\nB: neopla... |
[
{
"content": "<Instruct>: Given the context 'However, the possibility of genetic heterogeneity as the cause of clinical variability cannot be resolved until the gene(s) causing BOR syndrome are mapped.', select the correct biomedical concept corresponding to 'heterogeneity'. Answer using one of the provided opt... |
[
{
"content": "<Instruct>: Given the context 'The earpits-deafness syndrome is an autosomal dominant disorder in which affected individuals may have sensorineural, conductive or mixed hearing loss, preauricular pits, structural defects of the outer, middle and inner ear, lacrimal duct stenosis, branchial fistula... |
[
{
"content": "<Instruct>: Given the context 'This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis.', select the correct biomedical concept corresponding to 'renal... |
[
{
"content": "<Instruct>: Given the context 'Unilateral linear nevoid basal-cell carcinomas with comedones may represent postzygotic somatic mutation.', select the correct biomedical concept corresponding to 'somatic mutation'. Answer using one of the provided options.\n\n<Options>: A: synchronous skin lesions\... |
[
{
"content": "<Instruct>: Given the context 'Gorlin-Goltz syndrome is a rare autosomal dominant cancer predisposition syndrome that may be associated with eyelid basal cell carcinoma.', select the correct biomedical concept corresponding to 'carcinoma'. Answer using one of the provided options.\n\n<Options>: A:... |
[
{
"content": "<Instruct>: Given the context 'Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve.', select the correct biomedical concept corresponding to 'immaturity of the middle ear cleft, ossicles, fa... |
[
{
"content": "<Instruct>: Given the context 'The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her syndactyly was familial, but her unpreparedness for the birth of a child with PPS led to interest in, and a subsequent review of, the differnetial diagnosis and the variable expre... |
[
{
"content": "<Instruct>: Given the context 'The earpits-deafness syndrome is an autosomal dominant disorder in which affected individuals may have sensorineural, conductive or mixed hearing loss, preauricular pits, structural defects of the outer, middle and inner ear, lacrimal duct stenosis, branchial fistula... |
[
{
"content": "<Instruct>: Given the context 'Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common.', select the correct biomedical concept corresponding to 'development delays'. Answer using one of the provided options.\n\n<Options>: A... |
[
{
"content": "<Instruct>: Given the context 'STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1.', select the correct biomedical concept corresponding to 'articular, and auditory manifestations'. Answer using one of the... |
[
{
"content": "<Instruct>: Given the context 'Patients with AS with deletion have epilepsy with early onset and stereotyped electroclinical profile regarding seizure type, severity, and response to antiepileptic drug treatment.', select the correct biomedical concept corresponding to 'epilepsy'. Answer using one... |
[
{
"content": "<Instruct>: Given the context 'No difference in survival was observed between cultured cells from basal cell naevus syndrome (BCNS) patients and normal controls following exposure of fibroblasts to ionizing radiation.', select the correct biomedical concept corresponding to 'naevus'. Answer using ... |
[
{
"content": "<Instruct>: Given the context 'Thus it is apparent that the size of a diagnosed acoustic neurinoma is more important for surgical results than the chosen approach to the tumor.', select the correct biomedical concept corresponding to 'neurinoma'. Answer using one of the provided options.\n\n<Optio... |
[
{
"content": "<Instruct>: Given the context 'Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).', select... |
[
{
"content": "<Instruct>: Given the context 'Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely-angled promontories.', select the correct biomedical co... |
[
{
"content": "<Instruct>: Given the context 'The clinical characteristics examined were age at onset of symptoms of NF2 and number of intracranial meningiomas, which are the primary indices of the severity of NF2.', select the correct biomedical concept corresponding to 'intracranial meningiomas'. Answer using ... |
[
{
"content": "<Instruct>: Given the context 'The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis.', select the correct biomedical concept corresponding to 'distal arthrogryposis'. Answer using one of the provided options.\n\n<Option... |
[
{
"content": "<Instruct>: Given the context 'In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrom... |
[
{
"content": "<Instruct>: Given the context 'In three patients peripheral cortical opacities were present despite the absence of posterior subcapsular/capsular cataracts.', select the correct biomedical concept corresponding to 'peripheral cortical opacities'. Answer using one of the provided options.\n\n<Optio... |
[
{
"content": "<Instruct>: Given the context 'We have identified 15 patients from a series of 537 with unilateral vestibular schwannomas who also had one or more of the following: other tumours (10/15), features of NF2 (3/15), or a family history of neurogenic tumours (5/15).', select the correct biomedical conc... |
[
{
"content": "<Instruct>: Given the context 'The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri.', select the correct biomedical concept corresponding to 'palmar and/or plantar pits'. Answer using one of the provided options.\n\n<Options>... |
[
{
"content": "<Instruct>: Given the context 'All affected individuals share certain key features, but there is significant phenotypic variability within and among kindreds with respect to malformations.', select the correct biomedical concept corresponding to 'significant phenotypic variability within and among... |
[
{
"content": "<Instruct>: Given the context 'Type A1 brachydactyly in humans is a recognisable syndrome characterised by shortening of the middle phalanx of all digits with occasional fusion of the middle and terminal phalanges.', select the correct biomedical concept corresponding to 'shortening of the middle ... |
[
{
"content": "<Instruct>: Given the context 'All affected individuals share certain key features, but there is significant phenotypic variability within and among kindreds with respect to malformations.', select the correct biomedical concept corresponding to 'variability'. Answer using one of the provided opti... |
[
{
"content": "<Instruct>: Given the context 'These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650).', select the correct biomedical concept corresponding to 'erythematous wrinkled skin'. Answer us... |
[
{
"content": "<Instruct>: Given the context 'For screening at-risk relatives of patients with neurofibromatosis 2, the types of cataract that are most suggestive of neurofibromatosis 2 are plaque-like posterior subcapsular or capsular cataract and cortical cataract with onset under the age of 30 years.', select... |
[
{
"content": "<Instruct>: Given the context 'The early diagnosis of acoustic neuromas with the use of gadolinium-enhanced MRI may lead to better outcome following surgery.', select the correct biomedical concept corresponding to 'acoustic neuromas'. Answer using one of the provided options.\n\n<Options>: A: neu... |
[
{
"content": "<Instruct>: Given the context 'Neurofibromatosis 2 (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and cataracts.', select the correct biomedical concept corresponding to 'neural tumors'. Answer using one of the provided options.\n\n<Options>: A: tumor of the nervous s... |
[
{
"content": "<Instruct>: Given the context 'Investigations should include a family history, and examination of relatives to look for preauricular pits, lacrimal duct stenosis, and branchial fistulae and/or cysts.', select the correct biomedical concept corresponding to 'preauricular pits'. Answer using one of ... |
[
{
"content": "<Instruct>: Given the context 'Main seizure types were atypical absences and myoclonic and tonic-clonic seizures.', select the correct biomedical concept corresponding to 'myoclonic and tonic-clonic seizures'. Answer using one of the provided options.\n\n<Options>: A: myoclonic status epilepticus\... |
[
{
"content": "<Instruct>: Given the context 'Both have typical features of Gorlin syndrome plus additional findings, including mental retardation, conductive hearing loss, and failure to thrive.', select the correct biomedical concept corresponding to 'hearing loss'. Answer using one of the provided options.\n\... |
[
{
"content": "<Instruct>: Given the context 'Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same autosomal dominant mutation but distinct disease entities.', select the correct biomedical concept corresponding to 'dominant'. Answer using one of the prov... |
[
{
"content": "<Instruct>: Given the context 'Neurological symptoms included mild hydrocephalus, ventricular malformation, cerebellar syndrome, intracranial calcification, oculomotor disturbances, EEG abnormalities and rarely, mild peripheral nervous disorders.', select the correct biomedical concept correspondi... |
[
{
"content": "<Instruct>: Given the context 'We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma.', select the correct biomedical concept corresponding to 'medulloblastoma'. Answer using o... |
[
{
"content": "<Instruct>: Given the context 'Central neurofibromatosis with bilateral acoustic neuroma is an autosomal dominant disorder beginning about 20 years of age, accompanied by mild skin changes.', select the correct biomedical concept corresponding to 'acoustic neuroma'. Answer using one of the provide... |
[
{
"content": "<Instruct>: Given the context 'We consider that \"skin tag\"-like basal cell carcinomas in childhood may represent a marker for NBCCS.', select the correct biomedical concept corresponding to 'carcinomas'. Answer using one of the provided options.\n\n<Options>: A: cancer (aka neoplasm)\nB: colon c... |
[
{
"content": "<Instruct>: Given the context 'Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene cause the inherited disorder NF2 and are also common in malignant mesothelioma, which is not a characteristic feature of NF2.', select the correct biomedical concept corresponding to 'malignant mesothel... |
[
{
"content": "<Instruct>: Given the context 'Recognizing neurofibromatosis-2-related skin tumors is therefore important for early diagnosis of neurofibromatosis 2, especially in pediatric patients.', select the correct biomedical concept corresponding to 'skin tumors'. Answer using one of the provided options.\... |
[
{
"content": "<Instruct>: Given the context 'We report on a female patient with bilateral acoustic neurinomas and other tumors in the central nervous system (neurofibromatosis type 2: NF2) and the constitutional translocation, t(4;22) (q12;q12.2).', select the correct biomedical concept corresponding to 'tumors... |
[
{
"content": "<Instruct>: Given the context 'The younger daughter is the first patient with a SALL1 mutation to exhibit a classic Goldenhar syndrome-like phenotype with an epibulbar dermoid.', select the correct biomedical concept corresponding to 'epibulbar dermoid'. Answer using one of the provided options.\n... |
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