Dataset Preview
The full dataset viewer is not available (click to read why). Only showing a preview of the rows.
Could not read the parquet files: timed out
Error code: FileSystemError
Need help to make the dataset viewer work? Make sure to review how to configure the dataset viewer, and open a discussion for direct support.
messages list |
|---|
[
{
"content": "<Instruct>: Given the context 'EARS: slightly low set ears with uplifted ear lobes', select the correct biomedical concept corresponding to 'low set ears'. Answer using one of the provided options.\n\n<Options>: A: underdeveloped ear cartilage (aka hypoplasia of the ear cartilage)\nB: short ear (s... |
[
{
"content": "<Instruct>: Given the context 'We identified 3 types of NF2-associated lesions: juvenile posterior subcapsular cataracts, epiretinal membranes, and an intrascleral schwannoma.\n\n', select the correct biomedical concept corresponding to 'cataracts'. Answer using one of the provided options.\n\n<Op... |
[
{
"content": "<Instruct>: Given the context 'On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.', select the correct biomedical concept corresponding to 'neurofibromatosis'.... |
[
{
"content": "<Instruct>: Given the context 'Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both.', select the correct biomedical concept corresponding to 'involvement of the skin'. Answer using one of the provided options.\n\n<Options>: A: ... |
[
{
"content": "<Instruct>: Given the context 'The human homologue of the Drosophila segment polarity gene patched is implicated in the development of nevoid basal cell carcinoma syndrome (NBCCS) and in the genesis of sporadic basal cell carcinomas.', select the correct biomedical concept corresponding to 'carcin... |
[
{
"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 'SPINE: Mild scoliosis with Y-shaped gluteal cleft, shallow/well-defined base.', select the correct biomedical concept corresponding to 'scoliosis'. Answer using one of the provided options.\n\n<Options>: A: thoracolumbar kyphoscoliosis (dorsolumbar kyphosis) (aka tho... |
[
{
"content": "<Instruct>: Given the context 'GENITALIA: Bilateral cryptorchidism. Small phallus.', select the correct biomedical concept corresponding to 'Bilateral cryptorchidism'. Answer using one of the provided options.\n\n<Options>: A: male anorgasmia\nB: absent scrotum\nC: unilateral cryptorchidism (crypt... |
[
{
"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: ataxic tremor (aka ... |
[
{
"content": "<Instruct>: Given the context 'Parents reported improvement, characterized by decrease in seizure frequency or seizure control, at the mean age of 5.3 years.', select the correct biomedical concept corresponding to 'seizure'. Answer using one of the provided options.\n\n<Options>: A: motor seizure... |
[
{
"content": "<Instruct>: Given the context 'Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both.', select the correct biomedical concept corresponding to 'genital malformations'. Answer using one of the provided options.\n\n<Options>: A: ab... |
[
{
"content": "<Instruct>: Given the context 'The present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bi... |
[
{
"content": "<Instruct>: Given the context 'We have employed a combination of multipoint linkage analysis and examination of deletions in primary tumor specimens to precisely map the NF2 locus between flanking polymorphic DNA markers on chromosome 22.', select the correct biomedical concept corresponding to 't... |
[
{
"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 'joint cont... |
[
{
"content": "<Instruct>: Given the context 'GENERAL APPEARANCE: Friendly and conversant. Short stature.', select the correct biomedical concept corresponding to 'Short stature'. Answer using one of the provided options.\n\n<Options>: A: short stature (height less than 3rd percentile) (aka short stature)\nB: as... |
[
{
"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 'dominant'. Answer using one of the provided options.\n\n<Options>: A: autosomal... |
[
{
"content": "<Instruct>: Given the context 'Three successive generations in two families affected with the popliteal pterygium syndrome are reported.', select the correct biomedical concept corresponding to 'pterygium'. Answer using one of the provided options.\n\n<Options>: A: prominent eye folds (aka epicant... |
[
{
"content": "<Instruct>: Given the context 'Two similar, sporadic cases from the literature were also identified.', select the correct biomedical concept corresponding to 'sporadic cases'. Answer using one of the provided options.\n\n<Options>: A: semidominant inheritance (semidominant mode of inheritance) (ak... |
[
{
"content": "<Instruct>: Given the context 'NEUROLOGIC: Low Tone, with head lag', select the correct biomedical concept corresponding to 'Low Tone'. Answer using one of the provided options.\n\n<Options>: A: hypotonia, severe (aka severe muscular hypotonia)\nB: truncal hypotonia (aka axial hypotonia)\nC: low m... |
[
{
"content": "<Instruct>: Given the context 'This association was not present for other types of lens opacities that could be the result of age-related or nonspecific changes.', select the correct biomedical concept corresponding to 'lens opacities'. Answer using one of the provided options.\n\n<Options>: A: ag... |
[
{
"content": "<Instruct>: Given the context 'Premature vertebral end-plate disease was observed in four mutation carriers and was associated with spondylolysis and spondylolisthesis in three of these.', select the correct biomedical concept corresponding to 'spondylolisthesis'. Answer using one of the provided ... |
[
{
"content": "<Instruct>: Given the context 'Total colonoscopy revealed an edematous and spotty bleeding mucosa extending from the anus to the transverse colon.', select the correct biomedical concept corresponding to 'edematous and spotty bleeding mucosa'. Answer using one of the provided options.\n\n<Options>... |
[
{
"content": "<Instruct>: Given the context 'Clinical assessment documented findings of large mouth and jaw with deep set eyes, and microcephaly in nine patients (two having a large head size for height).', select the correct biomedical concept corresponding to 'large mouth and jaw'. Answer using one of the pro... |
[
{
"content": "<Instruct>: Given the context 'Nevoid basal cell carcinoma syndrome (NBCCS; basal cell nevus syndrome or Gorlin syndrome) is a cancer-predisposition syndrome characterized by multiple basal cell carcinomas (BCCs) and diverse developmental defects.', select the correct biomedical concept correspond... |
[
{
"content": "<Instruct>: Given the context 'Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of the nervous system including meningiomas, gliomas, neurofibromas and particularly bilateral acoustic neuromas.', select the correct biomed... |
[
{
"content": "<Instruct>: Given the context 'Ocular abnormalities were reported in 3/8 patients (37.5%) and 4/11 (36%) had developed kyphosis.', select the correct biomedical concept corresponding to 'Ocular abnormalities'. Answer using one of the provided options.\n\n<Options>: A: oculomotor abnormalities (aka... |
[
{
"content": "<Instruct>: Given the context 'NAILS HAIR SKIN: Nevus flammeus on back of neck and forehead.', select the correct biomedical concept corresponding to 'Nevus flammeus on back of neck'. Answer using one of the provided options.\n\n<Options>: A: juvenile nasopharyngeal angiofibroma\nB: nevus sebaceus... |
[
{
"content": "<Instruct>: Given the context 'NEUROLOGIC: Hypotonic faces. DTRs brisk in the upper extremities. DTRs 4+ in the lower extremities with 2 beats of clonus at the knees and 4 or more beats of clonus at the ankles.', select the correct biomedical concept corresponding to 'DTRs 4+ in the lower extremit... |
[
{
"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 'retardation'. Answer using one of the provided options.\n\n<Options>: A: mental deficienc... |
[
{
"content": "<Instruct>: Given the context 'A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome.', select the correct biomedical concept corresponding to 'dominant'. Answer using one of the provided opt... |
[
{
"content": "<Instruct>: Given the context 'This family demonstrates that some Angelman syndrome cases may be dominantly transmitted with variable expression and associated with abnormal or cytogenetically apparently normal chromosome 15.', select the correct biomedical concept corresponding to 'variable'. Ans... |
[
{
"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 'conductive hearing loss'. Answer using one of the provided ... |
[
{
"content": "<Instruct>: Given the context 'EYES: deep set eyes with slight hooding, very slight anisicoria', select the correct biomedical concept corresponding to 'EYES: deep set eyes with slight hooding'. Answer using one of the provided options.\n\n<Options>: A: eyes fixed downward (aka setting-sun eye phe... |
[
{
"content": "<Instruct>: Given the context 'HANDS FEET: Hands with two creases, mild clinodactyly bilaterally. Long appearing fingers. Feet with sandal gap bilaterally.', select the correct biomedical concept corresponding to 'Hands with two creases'. Answer using one of the provided options.\n\n<Options>: A: ... |
[
{
"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 'acoust... |
[
{
"content": "<Instruct>: Given the context 'Out of the total of 41 tumors, 12.5% were small acoustic neurinomas.', select the correct biomedical concept corresponding to 'neurinomas'. Answer using one of the provided options.\n\n<Options>: A: neuroblastic tumor (neuroblastic tumour) (aka neuroblastic tumor)\nB... |
[
{
"content": "<Instruct>: Given the context 'NEUROLOGIC: Hypertonia with contractures of the bilateral ankles. No clonus could be elicited. DTRs otherwise 2+. No dysmetria on finger to nose.', select the correct biomedical concept corresponding to 'Hypertonia'. Answer using one of the provided options.\n\n<Opti... |
[
{
"content": "<Instruct>: Given the context 'Comparing tumour and blood DNA cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours.', select the correct biomedical concept corresponding to 'tumours'. Answer using one of the provided optio... |
[
{
"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 'heart defect'. Answer using one of the provided options.\n\n... |
[
{
"content": "<Instruct>: Given the context 'HEAD: prominent forehead; HC 49.75 (~70%)', select the correct biomedical concept corresponding to 'prominent forehead'. Answer using one of the provided options.\n\n<Options>: A: frontal flattening (aka flat forehead)\nB: large forehead (increased size of frontal re... |
[
{
"content": "<Instruct>: Given the context 'The child with typical Angelman syndrome has an additional maternal recombination 5' to UBE3A. The second family is a mother and son both of whom have mental retardation but no other features of Angelman syndrome despite an extensive DNA deletion on the telomeric sid... |
[
{
"content": "<Instruct>: Given the context 'HANDS FEET: Mild sandal gap deformity bilaterally. Metatarsus adductus bilaterally. Right hand with two palmar creases. Left hand covered by peripheral IV line.', select the correct biomedical concept corresponding to 'Metatarsus adductus'. Answer using one of the pr... |
[
{
"content": "<Instruct>: Given the context 'The syndrome's main features are microbrachycephaly and peculiar face, mental deficiency with euphoria and laughter, ataxia and epilepsy consisting in infantile spasms and grand-mal attacks.', select the correct biomedical concept corresponding to 'epilepsy'. Answer ... |
[
{
"content": "<Instruct>: Given the context 'Contractures at other major joints are variable.', select the correct biomedical concept corresponding to 'Contractures'. Answer using one of the provided options.\n\n<Options>: A: congenital foot contractures\nB: abnormally loose or hyperelastic skin (aka abnormally... |
[
{
"content": "<Instruct>: Given the context 'Ten patients became symptomatic before age 21, and 9 of these patients developed additional central nervous system tumors.', select the correct biomedical concept corresponding to 'nervous system tumors'. Answer using one of the provided options.\n\n<Options>: A: ner... |
[
{
"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 'Other anomalies include coloboma, microphthalmia, auricular pits, lip pits, highly arched plate, dental anomalies, and subcutaneous cysts of the scalp.', select the correct biomedical concept corresponding to 'cysts of the scalp'. Answer using one of the provided opt... |
[
{
"content": "<Instruct>: Given the context 'Short stature may be a component of the brachydactyly C syndrome.', select the correct biomedical concept corresponding to 'brachydactyly C'. Answer using one of the provided options.\n\n<Options>: A: short middle and distal phalanges of digits ii through v (aka brac... |
[
{
"content": "<Instruct>: Given the context 'FISH analysis confirmed a disease-associated germinal deletion on 22q which encompassed the NEFH locus, which is known to be very closely linked to NF2, but did not extend as far as the proximal Ewing sarcoma region or the distal leukaemia factor (LIF) locus.', selec... |
[
{
"content": "<Instruct>: Given the context '[CI] 1.08-1.18) and was 2.51-fold greater in people with meningiomas compared with those without meningiomas (95% CI 1.38-4.57).', select the correct biomedical concept corresponding to 'meningiomas'. Answer using one of the provided options.\n\n<Options>: A: pseudog... |
[
{
"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 'NEUROLOGIC: Hypotonic faces. DTRs brisk in the upper extremities. DTRs 4+ in the lower extremities with 2 beats of clonus at the knees and 4 or more beats of clonus at the ankles.', select the correct biomedical concept corresponding to 'clonus at the ankles'. Answer... |
[
{
"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 'Nineteen of 421 white children in Montreal schools for the deaf had preauricular pits.', select the correct biomedical concept corresponding to 'deaf'. Answer using one of the provided options.\n\n<Options>: A: high-frequency deafness (aka high-frequency hearing impa... |
[
{
"content": "<Instruct>: Given the context 'Because the DAs are genetically heterogeneous, we sought additional candidate genes by examining modifiers of mutant Drosophila isoforms of TnI. One of these modifiers, Tm2, encodes tropomyosin, another component of the Tc-Tm complex.', select the correct biomedical ... |
[
{
"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 '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: speech articulation difficult... |
[
{
"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: focal aware clonic seizur... |
[
{
"content": "<Instruct>: Given the context 'Hereditary isolated brachydactyly type C (OMIM 113100) mostly follows an autosomal dominant pattern of inheritance with a marked variability in expression.', select the correct biomedical concept corresponding to 'dominant'. Answer using one of the provided options.\... |
[
{
"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 'Type A1 brachydactyly'. A... |
[
{
"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 gene for nevoid basal cell carcinoma syndrome (NBCCS, Gorlin) has an important role in congenital malformations and carcinogenesis.', select the correct biomedical concept corresponding to 'basal cell carcinoma'. Answer using one of the provided options.\n\n<Opti... |
[
{
"content": "<Instruct>: Given the context 'The analysis of a de novo 8q12.2-q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia.', select the correct biomedical... |
[
{
"content": "<Instruct>: Given the context 'NAILS HAIR SKIN: 1 brown macule on right scapula', select the correct biomedical concept corresponding to 'brown macule'. Answer using one of the provided options.\n\n<Options>: A: hypermelanotic macule (hyperpigmented skin patches) (aka hypermelanotic macule)\nB: mo... |
[
{
"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 'All patients showed movement problems.', select the correct biomedical concept corresponding to 'movement problems'. Answer using one of the provided options.\n\n<Options>: A: disorder of involuntary muscle movements (aka dyskinesia)\nB: decreased mobility of joints ... |
[
{
"content": "<Instruct>: Given the context 'SPINE: Mild scoliosis', select the correct biomedical concept corresponding to 'scoliosis'. Answer using one of the provided options.\n\n<Options>: A: thoracic kyphoscoliosis\nB: thoracic scoliosis\nC: lumbar scoliosis\nD: congenital kyphoscoliosis\nE: kyphoscoliosis... |
[
{
"content": "<Instruct>: Given the context 'Nevoid basal cell carcinoma syndrome (NBCCS) is a genodermatosis with autosomal dominant inheritance.', select the correct biomedical concept corresponding to 'autosomal dominant inheritance'. Answer using one of the provided options.\n\n<Options>: A: autosomal domin... |
[
{
"content": "<Instruct>: Given the context 'HANDS FEET: Left hand post-axial polydactyly. Right 4th toe with hypoplasia of distal phalanx.', select the correct biomedical concept corresponding to '4th toe with hypoplasia of distal phalanx'. Answer using one of the provided options.\n\n<Options>: A: aplasia of ... |
[
{
"content": "<Instruct>: Given the context 'MOUTH: Poor dentition with widely spaced teeth, prominent maxilla', select the correct biomedical concept corresponding to 'prominent maxilla'. Answer using one of the provided options.\n\n<Options>: A: transverse hypoplasia of maxilla (aka narrow maxilla)\nB: tilted... |
[
{
"content": "<Instruct>: Given the context 'Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression.', select the correct biomedical concept corresponding to 'variable'. Answer using one of the provided options.\n\n<Options>: A: skin fragility (aka fra... |
[
{
"content": "<Instruct>: Given the context 'Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of the nervous system including meningiomas, gliomas, neurofibromas and particularly bilateral acoustic neuromas.', select the correct biomed... |
[
{
"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 'We show that clinical subclassification based on the complexity of the brachydactyly type C phenotype related to the genetic defect is not feasible.', select the correct biomedical concept corresponding to 'brachydactyly type C'. Answer using one of the provided opti... |
[
{
"content": "<Instruct>: Given the context 'The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia-renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with \"Potter fac... |
[
{
"content": "<Instruct>: Given the context 'The 8q12.2-q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.', select the correct biomedical concept corresponding to 'dominant form'. Answer using one of the... |
[
{
"content": "<Instruct>: Given the context 'EYES: wide-spaced eyes', select the correct biomedical concept corresponding to 'wide-spaced eyes'. Answer using one of the provided options.\n\n<Options>: A: decreased distance between eyes (aka hypotelorism)\nB: broad eyebrows (aka broad eyebrow)\nC: large eyeballs... |
[
{
"content": "<Instruct>: Given the context 'Patients from all genotypic classes had characteristic EEGs with diffuse bifrontally dominant high-amplitude 1- to 3-Hz notched or triphasic or polyphasic slow waves, or slow and sharp waves.', select the correct biomedical concept corresponding to 'characteristic EE... |
[
{
"content": "<Instruct>: Given the context 'We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind... |
[
{
"content": "<Instruct>: Given the context 'Epilepsy severity, epilepsy evolution, and response to antiepileptic drug treatment.\n\n', select the correct biomedical concept corresponding to 'Epilepsy'. Answer using one of the provided options.\n\n<Options>: A: non-motor seizure\nB: recurrent seizures (aka seiz... |
[
{
"content": "<Instruct>: Given the context 'Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene.', select the correct biomedical concept corresponding to 'bilateral vestibular schwannomas'... |
[
{
"content": "<Instruct>: Given the context 'These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.', select the correct biomedical... |
[
{
"content": "<Instruct>: Given the context 'A variety of ocular abnormalities are present in neurofibromatosis 2, including cataracts, retinal hamartomas, and ocular motor deficits.', select the correct biomedical concept corresponding to 'cataracts'. Answer using one of the provided options.\n\n<Options>: A: ... |
[
{
"content": "<Instruct>: Given the context 'The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors.', select the correct biomedical concept corresponding to 'spinal tumors'. Answer using one of the... |
[
{
"content": "<Instruct>: Given the context 'NOSE: Prominent nasal tip', select the correct biomedical concept corresponding to 'Prominent nasal tip'. Answer using one of the provided options.\n\n<Options>: A: large nose (aka prominent nose)\nB: hyperplasia of tip of nose (aka prominent nasal tip)\nC: increased... |
[
{
"content": "<Instruct>: Given the context 'There were three patients who developed severe bradycardia and hypotension during induction of general anesthesia required postponement of the intended operation, and one patient with congenital hemiparesis who on investigation was found to have an absent internal ca... |
[
{
"content": "<Instruct>: Given the context 'EXTREMITIES: pitting edema to mid calf; edema prominent at the ankles', select the correct biomedical concept corresponding to 'edema to mid calf'. Answer using one of the provided options.\n\n<Options>: A: plantar ecchymosis\nB: plantar edema (plantar oedema) (aka p... |
[
{
"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 'aco... |
[
{
"content": "<Instruct>: Given the context 'GENITALIA: right testicle in canal. penile-scrotal webbing', select the correct biomedical concept corresponding to 'right testicle in canal'. Answer using one of the provided options.\n\n<Options>: A: testicular regression syndrome (aka vanishing testis)\nB: congeni... |
[
{
"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 '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 'We conclude that age at diagnosis, the strongest single predictor of the risk of mortality, is a useful index for patient counseling and clinical management (as are intracranial meningiomas).', select the correct biomedical concept corresponding to 'meningiomas'. Ans... |
[
{
"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 'visual, hearing, and speech problems'. Answer using one of the provided option... |
[
{
"content": "<Instruct>: Given the context 'All the subjects showing these changes had shortening of the big toes and, in addition, had cupped ears.', select the correct biomedical concept corresponding to 'shortening of the big toes'. Answer using one of the provided options.\n\n<Options>: A: short toe bones ... |
[
{
"content": "<Instruct>: Given the context 'The latter revealed that not only the daughter, the mother, but also their own mother and may be, the sister, the grand-mother and the great-aunt of the patient had a retardation, a slight dysmorphia, a type A brachydactylia, signs of obesity and an identical ankylos... |
[
{
"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 'Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity.', select the correct biomedical concept corresponding to 'variable'. Answer using one of the provided options.\n\n<Options>: A: sex-limit... |
[
{
"content": "<Instruct>: Given the context 'EARS: posteriorly rotated, thickened helices', select the correct biomedical concept corresponding to 'thickened helices'. Answer using one of the provided options.\n\n<Options>: A: notched helix (aka cleft helix)\nB: abnormally folded helix\nC: underfolded helix (po... |
[
{
"content": "<Instruct>: Given the context 'One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study.', select the correct biomedical concept corresponding to 'nevoid'. Answer using one of the provided options.\n\n<Op... |
End of preview.
README.md exists but content is empty.
- Downloads last month
- 89