QIDX int64 100k 1,000k | Question stringlengths 33 386 |
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714,837 | What protein group is associated with the dwarfism seen in Michelin tire baby syndrome? |
435,940 | What genetic condition associated with a deletion on chromosome 18 has an increased incidence of autism? |
863,681 | Which medical specialty would most likely treat a patient with phakomatosis pigmentovascularis? |
363,640 | What is a potential complication of CYLD cutaneous syndrome? |
314,081 | Is the gene that is responsible for Jansen's metaphyseal chondrodysplasia a member of the secretin family of G protein-coupled receptors? |
258,824 | What condition characterized by low calcium levels in the blood can lead to symptoms such as numbness, muscle spasms, and seizures, and is commonly caused by hypoparathyroidism? |
476,116 | Which signaling pathway is attenuated in Noonan syndrome? |
554,504 | What type of medical emergency can arise from decompensated parathyroid adenomas due to secretion issues? |
738,570 | What medical specialty is responsible for treating sinus barotrauma in pilots and aircrews? |
940,223 | Which human chromosome contains the gene associated with Gerstmann–Sträussler–Scheinker syndrome, which can cause dementia? |
717,940 | Which human chromosome contains the gene that encodes the protein interacting with fukutin in Fukuyama congenital muscular dystrophy? |
889,727 | What type of cerebellar degeneration is considered a progressive disease? |
699,326 | Where can families affected by Distal trisomy 10q find support groups? |
820,147 | What is the name of the textbook published in 1953 by the dermatologist who first recognized Degos disease as a new clinical entity? |
789,288 | Which medical specialty would be most relevant for treating primary cutaneous amyloidosis? |
907,308 | What are some potential complications during childbirth for individuals with hypermobile Ehlers-Danlos syndrome (hEDS)? |
343,076 | What is the first-line treatment for primary intraocular lymphoma (PIOL)? |
496,672 | Do mutations in POMGNT7 cause a subtype of a congenital disorder of glycosylation that also leads to muscle–eye–brain disease? |
887,567 | Which gene mutation associated with acute myeloid leukemia can lead to the generation of an oncometabolite that inhibits the activity of epigenetic enzymes? |
495,718 | What are the alternative names for Daentl Townsend Siegel syndrome? |
972,415 | Which layer of the meninges ensheathes the optic nerve? |
357,728 | Which medication used to treat hypertrophic cardiomyopathy can also be used for the prevention of migraines? |
957,287 | Which protein involved in familial intrahepatic cholestasis is responsible for transporting phospholipids across the apical membrane of hepatocytes? |
108,845 | Which U.S. state has reported cases of eosinophilic meningitis caused by Angiostrongylus cantonensis? |
149,454 | Which gene, called the "master control" gene for eye development, can cause mild to severe holoprosencephaly when misexpressed? |
298,091 | What treatment option for alpha-mannosidosis involves the transplantation of multipotent hematopoietic stem cells? |
799,107 | Which syndrome is associated with the absence of the retinal pigment epithelium? |
635,591 | Which organization adopted the Fredrickson classification for familial hyperlipidemias? |
377,451 | Which gene mutation causes the type of citrullinemia that primarily affects the central nervous system in adults? |
925,779 | What condition does the writer Lila Jute from the film 'Human Nature' have that causes thick hair to grow all over her body? |
223,815 | What congenital heart defect is associated with a genetic disorder that also includes horseshoe kidney? |
824,410 | Which gene is associated with Elejalde syndrome? |
944,539 | Which human chromosome contains the gene responsible for the deficiency of the enzyme that splits the dipeptide composed of beta-alanine and histidine? |
488,847 | Why can't humans regenerate cochlear sensory cells to prevent presbycusis? |
522,816 | Which gene associated with pontocerebellar hypoplasia can also cause hypotonia? |
535,997 | What chromosome harbors the gene linked to cystic fibrosis? |
247,711 | Which diagnostic test is important for diagnosing neuromyotonia? |
430,434 | Which imaging technique is recommended for diagnosing familial multiple lipomatosis when lipomas are large, deep, or have infiltrated muscle fibers or nerves? |
388,769 | Which enzyme's activity is reduced due to mutations in the HLCS gene? |
303,261 | What protein deficit leads to Fanconi–Bickel syndrome? |
588,585 | Which gene mutation causes a disease that affects various mucous tissues such as the mouth and eyes? |
455,179 | Which medical specialty is responsible for diagnosing and treating mitral stenosis? |
948,940 | Which medical specialty would be involved in diagnosing and treating aminolevulinic acid dehydratase deficiency porphyria? |
336,814 | What type of medication might be prescribed to help reduce irritation and inflammation in patients with baritosis? |
463,880 | Which gene mutation causes a disease that starts with the letter 'M' and leads to hearing loss and dystonia? |
935,626 | What medication is commonly used to manage hypothermia in Shapiro syndrome, which also involves hyperhidrosis? |
661,265 | Which cytokine family member is involved in the pathogenesis of septic shock? |
159,094 | Which specialist is involved in the treatment of both vocal cord dysfunction and puberphonia? |
665,435 | What type of medication is typically used to treat chorioretinitis caused by bacterial infections? |
698,939 | Which chromosome contains the gene that causes Congenital contractural arachnodactyly? |
276,256 | Which medication is used to augment treatment for persistent depressive disorder and is also used to treat ADHD? |
236,927 | What is the basic rod-like organelle of a muscle cell that is affected in central core disease? |
558,304 | How many amino acid residues are in the enzyme whose mutations cause MPI-CDG? |
774,387 | What type of leukemia is characterized by a recent onset and short duration? |
998,855 | Which gene associated with mitochondrial DNA depletion syndrome is regulated by the TP53 gene? |
123,304 | How long after exposure to the measles virus do symptoms typically begin to appear? |
415,760 | Which specific chromosomal deletion is associated with intellectual disability and genital malformations? |
672,653 | What mental health condition, marked by a persistent low mood and aversion to activities, is linked to hypertension? |
172,087 | Tooth and nail syndrome is associated with which type of medical condition? |
412,619 | Which gene mutation leads to a deficiency in the enzyme that breaks down cholesteryl esters and triglycerides in low-density lipoprotein particles? |
765,573 | Which continent has emerging cases of alveolar hydatid disease due to increasing fox populations? |
472,311 | Which gene mutation associated with cutis laxa affects the skin's elasticity? |
212,619 | What medication is recommended for treating both schistosomiasis and tapeworm infections caused by Hymenolepis nana or H. diminuta? |
950,565 | What type of skin condition is PELVIS syndrome classified as? |
306,063 | Which parasite genus can cause eosinophilic pneumonia by invading the lungs? |
711,866 | What is the prognosis for patients with Santos–Mateus–Leal syndrome? |
314,915 | What device can be used to manage symptoms of hereditary neuropathy with liability to pressure palsy? |
444,036 | What type of spinal cord injury can lead to both paralysis and muscle weakness? |
813,361 | Which genetic mutation is associated with a condition that can cause both skeletal dysplasia and vertebral anomalies? |
799,348 | What type of therapy is used to treat equinophobia? |
293,972 | What type of congenital malformation is Graham-Boyle-Troxell syndrome classified as? |
927,942 | What disease is associated with the overexpression of a gene linked to various tumors, including neuroblastomas, and was first described by an American physician in 1975? |
974,607 | Is cabergoline safe to use for a patient with cholestasis who has a prolactinoma? |
483,999 | Which imaging technique can be used to diagnose agenesis of the corpus callosum during pregnancy? |
342,043 | Which human chromosome contains the gene associated with esophageal atresia that is involved in neural cell adhesion? |
234,130 | What skin condition characterized by redness is a symptom of Rombo syndrome? |
783,707 | Which gene mutation causes a type of skeletal dysplasia that results in severe dwarfism and limb deformities? |
759,681 | What condition can result from the inactivity of a limb following an injury, leading to muscle atrophy, swelling, joint stiffness, and pain? |
194,026 | What is the term used to describe the abnormal facial shape in Al-Gazali-Donnai-Mueller syndrome? |
820,106 | Which cytokine is significantly elevated in the aqueous humour of patients with uveitis and is also known to act as both a pro-inflammatory cytokine and an anti-inflammatory myokine? |
866,526 | Which human chromosome contains the gene that affects zinc levels and is involved in inflammation? |
820,480 | How can the transmission of herpes simplex from mother to fetus be prevented during childbirth? |
488,027 | In Deafness-vitiligo-achalasia syndrome, what genetic inheritance is involved? |
907,848 | Is it possible for both retrograde amnesia and dissociative amnesia to occur without anatomical brain damage? |
548,483 | Is chondromalacia patellae sometimes used synonymously with knee pain caused by issues involving the kneecap and the femur? |
142,492 | What cellular component do red blood cells lack that prevents mitochondrial disease detection? |
685,061 | What is the recommended age for reinsertion of the nasolabial muscles in individuals with Binder's syndrome? |
403,312 | Which chromosome contains the gene that causes congenital contractural arachnodactyly? |
295,338 | What skin condition is associated with familial benign copper deficiency? |
428,289 | What is the karyotype associated with a higher prevalence of gonadal agenesis? |
238,834 | What chromosomal abnormality can lead to a miscarriage due to having three copies of a specific chromosome? |
123,764 | Which bacterium is commonly involved in both necrotizing fasciitis and infections of burn injuries? |
303,602 | Which bacterium responsible for Pinta has a spiral morphology? |
279,112 | What genetic mutation causes a condition that can lead to pressure ulcers in patients? |
218,881 | Which human chromosome contains the gene linked to Caroli syndrome? |
612,861 | Which syndrome is associated with Ankyrin and Long QT syndrome 4? |
101,075 | Does Marfan syndrome have less than 30 signs or symptoms associated with itself? |
974,536 | Which staining method can be used to visualize the bacterium that causes syphilis? |
576,414 | Which congenital condition is associated with esophageal atresia and other defects such as vertebral anomalies and cardiac defects? |
294,379 | Which illness causes frequent loose stools leading to dehydration? |
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