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[
{
"content": "<Instruct>: Given the context 'Behavioral characteristics are atypical for mental age and do not appear to represent unusual seizure equivalents.', select the correct biomedical concept corresponding to 'seizure'. Answer using one of the provided options.\n\n<Options>: A: crescendo seizures (aka s... |
[
{
"content": "<Instruct>: Given the context 'According to our own results and the data in the literature, sporadic cases of NF-2 are clinically characterized by a high incidence of multiple meningiomas and spinal tumors in addition to the bilateral occurrence of acoustic neurinomas.', select the correct biomedi... |
[
{
"content": "<Instruct>: Given the context 'Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear.', select the correct biomedical concept corresponding to 'renal an... |
[
{
"content": "<Instruct>: Given the context 'To assess possible heterogeneity, we assigned affected individuals to three proposed subtypes (representing mild, intermediate, and severe NF2) based on age-at-onset, presence or absence of CNS tumors other than vestibular schwannomas, and presence or absence of reti... |
[
{
"content": "<Instruct>: Given the context 'By a molecular genetic approach we have now shown that acoustic neuroma, one of the most common tumours of the human nervous system, is specifically associated with loss of genes on human chromosome 22 and may result from the mechanism of tumorigenesis discovered in ... |
[
{
"content": "<Instruct>: Given the context 'Subjects with truncating mutations were significantly more likely to have symptoms before 20 years of age (p<0.001) and to develop at least two symptomatic CNS tumours in addition to vestibular schwannoma before 30 years (p<0.001).', select the correct biomedical con... |
[
{
"content": "<Instruct>: Given the context 'We report on seven children with Angelman syndrome presenting with psychomotor retardation during the 1st year of life.', select the correct biomedical concept corresponding to 'psychomotor retardation'. Answer using one of the provided options.\n\n<Options>: A: reta... |
[
{
"content": "<Instruct>: Given the context 'Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and renal anomalies.', select the correct biomedical concept corresponding to 'renal anomalies'. Answer using one of the provided options.\n\n<Op... |
[
{
"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 'autosomal dominant'. Answer using one of the provided options.\n\n<Opti... |
[
{
"content": "<Instruct>: Given the context 'Eleven sporadic basal cell carcinomas and all 3 hereditary tumors had allelic loss of chromosome 9q31, and all informative kindreds showed tight linkage between the Gorlin syndrome gene and a genetic marker in this region.', select the correct biomedical concept corr... |
[
{
"content": "<Instruct>: Given the context 'Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of variable expression in members of the same family.', select the correct biomedical concept corresponding to... |
[
{
"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 'orofacial, articular, and auditory manifestations'. Answer using... |
[
{
"content": "<Instruct>: Given the context 'We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias.', select the correct biomedical concept corresponding to 'coronal hypospadias'. Answer using one of the provided op... |
[
{
"content": "<Instruct>: Given the context 'All of the patients presented with severe to profound global developmental delay and postnatal-onset microcephaly; they had seizures, hypotonia, hyperreflexia, and hyperkinesis.', select the correct biomedical concept corresponding to 'seizures'. Answer using one of ... |
[
{
"content": "<Instruct>: Given the context 'Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity.', select the correct biomedical concept corresponding to 'cleft palate'. Answer using one of the provided options.\n\n<Options>: A: cleft... |
[
{
"content": "<Instruct>: Given the context 'The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull.', select the correct biomedical concept correspo... |
[
{
"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 'These findings support the inclusion of cortical cataracts of early onset, in addition to posterior subcapsular/capsular cataracts, in the diagnostic criteria of neurofibromatosis 2.', select the correct biomedical concept corresponding to 'neurofibromatosis'. Answer... |
[
{
"content": "<Instruct>: Given the context 'The most common ocular abnormalities were posterior subcapsular or capsular, cortical, or mixed lens opacities in 33 (67%) of 49 patients with neurofibromatosis 2 and retinal hamartomas in 11 (22%).', select the correct biomedical concept corresponding to 'capsular, ... |
[
{
"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 'tumor'. Answer usi... |
[
{
"content": "<Instruct>: Given the context 'We evaluated 162 consecutive patients who underwent radiosurgery for acoustic neuromas between 1987 and 1992 by means of serial imaging tests, clinical evaluations, and a survey between 5 and 10 years after the procedure.', select the correct biomedical concept corre... |
[
{
"content": "<Instruct>: Given the context 'Branchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q.', select the correct biomedical concept corresponding to 'autosomal dominant'. Answer using one of the provided options.\n\n<Options>: A: x-linked inher... |
[
{
"content": "<Instruct>: Given the context 'The eyelid basal cell carcinoma was advanced with orbital infiltration in three patients, one of whom opted for palliative radiotherapy, whereas the other two underwent orbital exenteration.', select the correct biomedical concept corresponding to 'carcinoma'. Answer... |
[
{
"content": "<Instruct>: Given the context 'Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of variable expression in members of the same family.', select the correct biomedical concept corresponding to... |
[
{
"content": "<Instruct>: Given the context 'Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by tumors on the vestibular branch of the VIII cranial nerve, but other types of nervous system tumors usually occur as well.', select the correct biomedical concept corresponding to 'Ne... |
[
{
"content": "<Instruct>: Given the context 'Asymptomatic mutation carriers may have developmental abnormalities of the eye that are detectable in childhood or adolescence, a finding that may assist in early diagnosis of the disease.\n\n', select the correct biomedical concept corresponding to 'developmental ab... |
[
{
"content": "<Instruct>: Given the context 'However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation.', select the correct biomedical concept corresponding to 'carcin... |
[
{
"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 'contractures'. Answer using one of the provided options.\n\n<Options>: A: neck j... |
[
{
"content": "<Instruct>: Given the context 'Branchio-oto-renal syndrome is a heterogeneous disorder inherited in an autosomal dominant pattern, characterized by branchial arch abnormalities, hearing loss and renal abnormalities, with mutations in EYA1 reported in 30-70% of patients.', select the correct biomed... |
[
{
"content": "<Instruct>: Given the context 'We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures.', select the correct biomedical concept corresponding to 'contractur... |
[
{
"content": "<Instruct>: Given the context 'The movement disorder consists of a wide based, ataxic gait with frequent jerky limb movements and flapping of the hands.', select the correct biomedical concept corresponding to 'ataxic'. Answer using one of the provided options.\n\n<Options>: A: spastic ataxia\nB: ... |
[
{
"content": "<Instruct>: Given the context 'We describe a new family with the Townes-Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations.', select the correct biomedical concept corresponding to 'urorenal, ear and limb malformations'. Answer using one of the provided ... |
[
{
"content": "<Instruct>: Given the context 'Patients with this syndrome have had medulloblastoma, meningioma, ovarian fibroma, ovarian fibrosarcoma, fibrosarcoma of the jaws, cardiac fibroma, fetal rhabdomyoma, and lymphatic or chylous cysts of the mesentery.', select the correct biomedical concept correspondi... |
[
{
"content": "<Instruct>: Given the context 'We have characterized the genomic structure of PTCH2 and have used single-stranded conformational polymorphism analysis to search for mutations in PTCH2 in NBCCS patients, basal cell carcinomas and in medulloblastomas.', select the correct biomedical concept correspo... |
[
{
"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: phenotypic modifier (aka clinical modifier)... |
[
{
"content": "<Instruct>: Given the context 'The disorder is an autosomal dominant form of cleft lip and palate with lip pits, and is the most common syndromic form of cleft lip or palate.', select the correct biomedical concept corresponding to 'autosomal dominant form'. Answer using one of the provided option... |
[
{
"content": "<Instruct>: Given the context 'These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance.', select the correct biomedical concept corresponding to 'dominant'. Answer using one of the provided options.\n\n<Options>: A: x-linke... |
[
{
"content": "<Instruct>: Given the context 'The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition.', select the correct biomedical concept corresponding to 'microcephaly'. Answer... |
[
{
"content": "<Instruct>: Given the context 'Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a).', select the correct biomedical concept corresponding to 'Brachydactyly'. Answer using one of the provided options.\n\n<Options>: A: brachymesophal... |
[
{
"content": "<Instruct>: Given the context 'Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease.', select the correct biomedical concept corresponding to 'vestibular ... |
[
{
"content": "<Instruct>: Given the context 'The first patient is a child with Williams syndrome, the second, Angelman (Happy Puppet) syndrome, and the third is a child with hypotonia of infancy, obesity, and developmental delay, but who does not meet specific diagnostic criteria for the Prader-Willi syndrome.'... |
[
{
"content": "<Instruct>: Given the context 'Unique cardiac anomalies seen in this family include lethal truncus arteriosus in one patient and a lethal complicated defect, including pulmonary valve atresia, in a second patient.', select the correct biomedical concept corresponding to 'pulmonary valve atresia'. ... |
[
{
"content": "<Instruct>: Given the context 'This contrasts with non-familial (sporadic) cases where solitary tumours result from the infrequent occurrence of two rare events within the same cell.', select the correct biomedical concept corresponding to 'tumours'. Answer using one of the provided options.\n\n<O... |
[
{
"content": "<Instruct>: Given the context 'Growth retardation, developmental delay, and hand anomalies are variable components of the syndrome.', select the correct biomedical concept corresponding to 'retardation'. Answer using one of the provided options.\n\n<Options>: A: mental and motor retardation (aka g... |
[
{
"content": "<Instruct>: Given the context 'The frequency of BOR syndrome among cases of recurrent fetal renal hypoplasia/dysplasia or agenesis is unknown, and parental renal ultrasonography may not identify a heritable renal defect.', select the correct biomedical concept corresponding to 'renal defect'. Answ... |
[
{
"content": "<Instruct>: Given the context 'Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours.', select the correct biomedical concept corresponding to 'dominantly inherited'. Answer using one of the provided options.\n\n<Options>... |
[
{
"content": "<Instruct>: Given the context 'Class I patients had severe intractable epilepsy, most frequently with atypical absences and myoclonias and less frequently with generalized extensor tonic seizures or flexor spasms.', select the correct biomedical concept corresponding to 'atypical absences'. Answer... |
[
{
"content": "<Instruct>: Given the context 'This disorder has been reported showing autosomal dominant transmission so this family could represent either an autosomal recessive form or germline mosaicism for the dominant gene.', select the correct biomedical concept corresponding to 'autosomal recessive form'.... |
[
{
"content": "<Instruct>: Given the context 'To this end, we have compared tumor and constitutional DNAs, isolated from 39 unrelated patients with sporadic and NF2-associated acoustic neuromas, meningiomas, schwannomas, and ependymomas, at eight polymorphic loci on chromosome 22.', select the correct biomedical... |
[
{
"content": "<Instruct>: Given the context 'A literature survey of prenatally diagnosed cases of multiple joint contractures is presented.', select the correct biomedical concept corresponding to 'multiple joint contractures'. Answer using one of the provided options.\n\n<Options>: A: congenital finger contrac... |
[
{
"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 'stereotyped'. Answer using ... |
[
{
"content": "<Instruct>: Given the context 'Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of brachydactyly type C.', select the correct biomedical concept correspondin... |
[
{
"content": "<Instruct>: Given the context 'We report on a woman who was diagnosed with branchio-oto-renal (BOR) syndrome after 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis.', select the correct biomedical concept corresponding to 'renal hypoplasia and agenesis'. Answer usi... |
[
{
"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 'bilateral acoustic neuroma'. Answer using one of t... |
[
{
"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'. Answer using one of the provided options.\n\n<Options>: A: generalized epileptic myoclonus (aka generalized myoclo... |
[
{
"content": "<Instruct>: Given the context 'These results suggest that, as in the case of vestibular schwannomas and meningiomas, loss of functional NF2 gene product is also the critical event in the development of skin schwannomas.', select the correct biomedical concept corresponding to 'meningiomas'. Answer... |
[
{
"content": "<Instruct>: Given the context 'There are no associated visceral anomalies; intelligence is normal.', select the correct biomedical concept corresponding to 'visceral anomalies'. Answer using one of the provided options.\n\n<Options>: A: morphological anomaly of the digestive system (aka abnormal g... |
[
{
"content": "<Instruct>: Given the context 'Symptom complexes include cerebral palsy, static encephalopathy, Lennox-Gastaut syndrome, autism spectrum disorder, pervasive developmental delay (PDD), and mitochondrial disorders.', select the correct biomedical concept corresponding to 'autism'. Answer using one o... |
[
{
"content": "<Instruct>: Given the context 'We found statistically significant genotype-phenotype correlations for intracranial meningiomas, spinal tumors, and peripheral nerve tumors.', select the correct biomedical concept corresponding to 'peripheral nerve tumors'. Answer using one of the provided options.\... |
[
{
"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 'retardation'. Answer using one of the provided options.\n\n<Options>: A:... |
[
{
"content": "<Instruct>: Given the context 'The neurofibromatosis type 2 (NF2) gene has been hypothesized to be a recessive tumor suppressor, with mutations at the same locus on chromosome 22 that lead to NF2 also leading to sporadic tumors of the types seen in NF2.', select the correct biomedical concept corr... |
[
{
"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 'To this end, we have compared tumor and constitutional DNAs, isolated from 39 unrelated patients with sporadic and NF2-associated acoustic neuromas, meningiomas, schwannomas, and ependymomas, at eight polymorphic loci on chromosome 22.', select the correct biomedical... |
[
{
"content": "<Instruct>: Given the context 'The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity.', select the correct biomedical concept corresponding to 'carcinoma'. Answer using one of the provided options.\n\n<Options>: A: breast cancer (a... |
[
{
"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 'Two of the three offspring showed extensive involvement of the palate, gums, and lips with minimal involvement of the lower limbs, genitalia, and nails.', select the correct biomedical concept corresponding to 'involvement of the lower limbs'. Answer using one of the... |
[
{
"content": "<Instruct>: Given the context 'The pathogenesis of these tumors, the genetic aspects of this disorder, and potential treatment alternatives are discussed.', select the correct biomedical concept corresponding to 'tumors'. Answer using one of the provided options.\n\n<Options>: A: fibroma\nB: carci... |
[
{
"content": "<Instruct>: Given the context 'Nevoid basal cell carcinoma syndrome (NBCCS) is rare in black persons.', select the correct biomedical concept corresponding to 'carcinoma'. Answer using one of the provided options.\n\n<Options>: A: neoplasm by anatomical site\nB: neoplasm (oncological abnormality) ... |
[
{
"content": "<Instruct>: Given the context 'A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported.', select the correct biomedical concept corresponding to 'retardation'. Answer using one of th... |
[
{
"content": "<Instruct>: Given the context 'Autosomal dominant inheritance seems likely.', select the correct biomedical concept corresponding to 'Autosomal dominant inheritance'. Answer using one of the provided options.\n\n<Options>: A: biallelic_autosomal (aka autosomal recessive inheritance)\nB: polygenic ... |
[
{
"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 'These include calcification of the falx cerebri and tentorium cerebelli and dysgenesis of the corpus callosum and vermis.', select the correct biomedical concept corresponding to 'dysgenesis of the corpus callosum'. Answer using one of the provided options.\n\n<Optio... |
[
{
"content": "<Instruct>: Given the context 'This finding might provide a clue to the chromosomal location of the defective gene in bilateral acoustic neurofibromatosis, an autosomal dominant disorder with the hallmark of bilateral acoustic neuromas.', select the correct biomedical concept corresponding to 'aut... |
[
{
"content": "<Instruct>: Given the context 'We present patients with a complex brachydactyly type C phenotype in whom there is considerable intra- and interfamilial variability in expression.', select the correct biomedical concept corresponding to 'variability in expression'. Answer using one of the provided ... |
[
{
"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 'Histopathologic examination of these papules showed basal cell carcinomas in each biopsy specimen.\n\n', select the correct biomedical concept corresponding to 'carcinomas'. Answer using one of the provided options.\n\n<Options>: A: neoplasm by anatomical site\nB: ga... |
[
{
"content": "<Instruct>: Given the context 'The role of monosomy 22 in tumorigenesis of meningiomas and neurofibromas is discussed.', select the correct biomedical concept corresponding to 'meningiomas'. Answer using one of the provided options.\n\n<Options>: A: neuroepithelial neoplasm\nB: astrocytoma\nC: neu... |
[
{
"content": "<Instruct>: Given the context 'We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices.', select the correct biomedical concept corresponding to 'bilateral sensorineural hearing los... |
[
{
"content": "<Instruct>: Given the context 'She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas.', select the correct biomedical concept corresponding to 'schwannomas'. Answer using one of the provided options.\n\n<Options>: A: plexiform neurofibroma\nB: neurofi... |
[
{
"content": "<Instruct>: Given the context 'Her mother had severe brachycephaly, sensorineural hearing loss, speech impediment, and mild ataxia.', select the correct biomedical concept corresponding to 'speech impediment'. Answer using one of the provided options.\n\n<Options>: A: abnormal speech (aka abnormal... |
[
{
"content": "<Instruct>: Given the context 'By a molecular genetic approach we have now shown that acoustic neuroma, one of the most common tumours of the human nervous system, is specifically associated with loss of genes on human chromosome 22 and may result from the mechanism of tumorigenesis discovered in ... |
[
{
"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 '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 'phenotypic variability'. Answer using one of the pr... |
[
{
"content": "<Instruct>: Given the context 'Townes-Brocks syndrome (TBS, OMIM #107480) is a rare autosomal-dominant malformation syndrome with a combination of anal, renal, limb and ear anomalies.', select the correct biomedical concept corresponding to 'ear anomalies'. Answer using one of the provided options... |
[
{
"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 '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 'Cutaneous manifestations of neurofibromatosis and a positive family history of this disorder were absent in many of the patients.', select the correct biomedical concept corresponding to 'neurofibromatosis'. Answer using one of the provided options.\n\n<Options>: A: ... |
[
{
"content": "<Instruct>: Given the context 'This is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect.', select the correct biomedical concept corresponding to 'rectovaginal fistula'. Answer using one of the provided opti... |
[
{
"content": "<Instruct>: Given the context 'Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma.', select the correct biomedical concept corre... |
[
{
"content": "<Instruct>: Given the context 'The most consistent findings among individuals were overlapping fingers at birth, abnormal digital flexion creases, and foot deformities, including talipes equinovarus and vertical talus.', select the correct biomedical concept corresponding to 'talipes equinovarus'.... |
[
{
"content": "<Instruct>: Given the context 'In addition, children with UPD showed better physical growth, fewer or no seizures, a lower incidence of microcephaly, less ataxia and higher cognitive skills.', select the correct biomedical concept corresponding to 'ataxia'. Answer using one of the provided options... |
[
{
"content": "<Instruct>: Given the context 'However, the facial appearance of the girls was similar to each other with mild hypertelorism.', select the correct biomedical concept corresponding to 'facial appearance'. Answer using one of the provided options.\n\n<Options>: A: facial abnormality (aka abnormality... |
[
{
"content": "<Instruct>: Given the context 'The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other tumors, and developmental abnormalities.', select the correct b... |
[
{
"content": "<Instruct>: Given the context 'Neurofibromatosis 2 or bilateral acoustic neurofibromatosis (NF2) is a severe autosomal dominant disorder characterized by the development of multiple tumors of the nervous system, including meningiomas, gliomas, neurofibromas, ependymomas, and particularly acoustic ... |
[
{
"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 'Two and sometimes three of these EEG features could be present in the same record particularly at a young age.', select the correct biomedical concept corresponding to 'young'. Answer using one of the provided options.\n\n<Options>: A: delayed bone age before puberty... |
[
{
"content": "<Instruct>: Given the context 'However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation.', select the correct biomedical concept corresponding to 'carcin... |
[
{
"content": "<Instruct>: Given the context 'Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birt... |
[
{
"content": "<Instruct>: Given the context 'The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) ... |
[
{
"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 'pits'. Answer using one... |
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