QIDX int64 100k 1,000k | Question stringlengths 33 386 |
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100,553 | Which human chromosome contains the gene associated with nonsyndromic deafness and Usher syndrome type 1F? |
117,634 | On which human chromosome is the gene that causes orotic aciduria located? |
406,924 | What is the ICD-10 code for the disorder where a caregiver fabricates or induces illness in another person? |
329,222 | What syndrome is characterized by hydrocephalus, endocardial fibroelastosis, and a condition that can cause blindness? |
200,639 | What branch of medicine deals with the diseases that include gangliosidosis? |
781,444 | Which type of polyneuropathy can be caused by diabetes? |
584,487 | Which genetic disorder was originally termed Abderhalden–Kaufmann–Lignac syndrome? |
425,416 | Which type of pseudohypoaldosteronism is associated with hyperchloremic metabolic acidosis? |
353,225 | Could individuals who at birth present with one or more of the following conditions: macrosomia, macroglossia, or hemihyperplasia, also present with Wilms tumor? |
542,314 | What is the origin of the word 'stye'? |
206,223 | Which gene mutation associated with Emery–Dreifuss muscular dystrophy can lead to arrhythmias? |
873,874 | During which weeks of gestation does the urogenital sinus separate from the genital tubercle and rectum to form the penis, potentially leading to diphallia if disrupted? |
325,561 | Which gene, identified through genetic testing, is conclusively linked to causing hyperekplexia? |
520,388 | What type of disease is morphea considered to be? |
173,131 | Why should individuals with Pendred syndrome take precautions against head injury? |
199,107 | Which organ is affected by the impaired absorption of copper in Menkes disease? |
670,807 | Which gene is associated with myoclonic epilepsy and ragged-red fiber disease (MERRF)? |
253,448 | What diagnostic procedure can be used to detect esophageal cancer when an endoscopy fails? |
145,727 | What is a common heart-related complication in children with Jacobsen syndrome? |
960,032 | Which vitamin deficiency causes a disorder that affects the central nervous system and is associated with prolonged alcohol ingestion? |
103,902 | Who is responsible for diagnosing and treating hearing loss? |
622,010 | Which syndrome is caused by an expansion of the CGG triplet repeat within the FMR1 gene on the X chromosome? |
761,762 | What surgical procedure can be used to treat arrhythmias in individuals with CPVT by targeting the sympathetic nervous system? |
517,955 | Which component in QuikClot bandages activates the coagulation factor involved in treating stab wounds? |
384,010 | What is the only effective treatment for encephaloceles, a condition that occurs in one per 5,000 live births worldwide, including in Virginia? |
141,115 | Which dermatologist first described the condition known as hypomelanosis of Ito? |
355,051 | Which gene mutation is associated with a syndrome that includes both congenital cataracts and iris coloboma? |
401,286 | Which human chromosome contains the gene responsible for galactokinase deficiency? |
314,628 | Are mutations in genes on chromosome 2 associated with asphyxiating thoracic dysplasia? |
670,112 | Which gene mutation is associated with a condition that includes hypoplasia of the eyes? |
268,523 | Which anatomical structure is affected by Osgood–Schlatter disease? |
415,169 | What is the term for substances that cause birth defects and can lead to conditions like ectrodactyly? |
242,619 | Which gene mutation is associated with both Chronic Progressive External Ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)? |
493,262 | What prenatal diagnostic method can indicate the presence of esophageal atresia? |
539,490 | Which medical specialist is responsible for diagnosing and managing Walker–Warburg syndrome? |
332,073 | In which year was the Nobel Prize in Physiology or Medicine awarded to the discoverer of the organelle whose malfunction leads to mucopolysaccharidoses? |
147,609 | Which organization publishes the journal that offers clinical research on hypoactive sexual desire disorder? |
442,506 | What type of cell division is involved in the proliferation of chondroblastoma cells? |
962,543 | Which gene mutation causes the absence of fingerprints and is located on chromosome 4? |
153,836 | What maternal condition that requires kidney dialysis can increase the risk of neural tube defects in offspring? |
543,004 | What type of inheritance pattern does axial osteosclerosis follow? |
798,201 | Which condition is caused by an overdose of a substance that also inactivates enzymes in lysosomes and has an anti-inflammatory effect? |
318,108 | Which medical specialty is most likely to treat patients with VACTERL association? |
208,600 | What is the primary treatment strategy for individuals with MCADD to prevent metabolic decompensation during illness? |
535,904 | Which organ in the body can be affected by Niemann–Pick disease type B, leading to pathologic alterations? |
258,162 | What type of tumor can cause visual disturbances by compressing the optic nerve? |
658,933 | Which human chromosome contains the gene associated with congenital disorder of glycosylation type 1N? |
873,732 | What is a common symptom of Glanzmann's thrombasthenia that affects the gums? |
422,662 | Which genetic syndrome characterized by congenital hearing loss and pigmentation deficiencies can also present with poliosis? |
645,528 | Which genetic connective tissue disorder is associated with both joint hypermobility and mutations in the GDF6 gene? |
989,121 | Which gland is affected by the mutation causing Chondrodysplasia Blomstrand? |
459,275 | What is a potential long-term complication of bladder exstrophy that involves mineral deposits in the urinary bladder? |
446,810 | Which gene mutation on chromosome 14 causes a condition characterized by visual impairment and limb anomalies? |
975,753 | What type of tissue is involved in the fibrosis seen in primary myelofibrosis? |
156,605 | What is the inheritance pattern of the disorder caused by a mutation in the COMP gene? |
719,323 | What prenatal condition is a risk factor for both schizophrenia and sudden infant death syndrome? |
964,098 | What genetic mutation is associated with Smith–Fineman–Myers syndrome, which also causes scoliosis? |
615,116 | What is a potential long-term complication of congenital cytomegalovirus (cCMV) infection? |
223,434 | Which genes are deleted in Ayazi syndrome, an X-linked recessive disorder? |
629,511 | Which inheritance pattern characterizes Huntington's disease? |
493,820 | Which gene located on the X chromosome is associated with both FG syndrome and Rett syndrome? |
955,412 | What is the name of the genus of fish that carries egg clusters on hooks protruding from the forehead? |
664,574 | What brain malformation associated with neuronal migration disorders involves an area of the cerebral cortex with only four cortical layers instead of six? |
989,261 | Which chromosome is associated with a disease that affects the muscular system and is treated with clonazepam? |
167,202 | Which enzyme's loss of function, due to mutations in the PANK2 gene, leads to a condition that can cause spasticity? |
817,995 | What branch of medicine would be involved in the diagnosis and management of Guizar-Vasquez-Sanchez-Manzano syndrome? |
110,703 | Glycogen storage disease type II and Danon disease are the only two glycogen storage diseases known to result from lysosomal defects. Are both of the genes that are mutated in these disorders autosomal? |
726,768 | Which television show featured an episode about a woman addicted to huffing computer duster? |
153,840 | Which medical specialty would be most involved in treating a patient with angiomatosis? |
848,035 | Which gene mutation causes the subtype of spondyloepimetaphyseal dysplasia known as the Strudwick type? |
392,843 | Which gene mutation causes a connective tissue disorder that includes skeletal features such as scoliosis and joint hypermobility? |
864,810 | On which chromosome is the gene responsible for Carpenter syndrome, which is associated with brachydactyly, located? |
950,299 | What is the most common ECG abnormality seen in individuals with arrhythmogenic cardiomyopathy? |
314,508 | Which gene mutation causes a subtype of congenital disorder of glycosylation that also leads to muscle–eye–brain disease? |
913,970 | What part of the body is affected by hypernasal speech in individuals with Lujan–Fryns syndrome? |
598,077 | Which cells are responsible for the production and secretion of thyroid hormones and are involved in follicular thyroid cancer? |
779,445 | Which skin condition is associated with arrhythmogenic cardiomyopathy in Naxos disease? |
751,568 | Which NIH organization funds research on cerebellar hypoplasia and other neurological disorders? |
399,421 | Which brain region is associated with memory loss in both hydrocephalus and amnesia? |
739,361 | Does Cryptorchidism-arachnodactyly-intellectual disability syndrome include brachydactyly as a symptom? |
650,454 | How can physical activity impact the symptoms of somatic symptom disorder? |
962,501 | What embryological process failure causes the midline facial cleft seen in frontonasal dysplasia? |
276,360 | Which virus that can cause hearing loss in children is also known for causing chickenpox and shingles? |
859,233 | Which medical specialty would most likely treat a patient with metacarpal synostosis caused by mutations in the FGF16 gene? |
414,106 | What substance is recommended to prevent tick bites that can transmit Omsk hemorrhagic fever? |
601,601 | What chromosome is affected in glycogen storage disease type 0? |
358,152 | Which chromosome is associated with ring chromosome 20 syndrome? |
328,973 | Which gene mutation associated with Leigh syndrome can be exacerbated by carbon monoxide poisoning? |
268,187 | What joint disorder can lead to hemarthrosis due to cartilage damage? |
327,216 | Which syndrome is associated with a deficiency in the enzyme encoded by the PSPH gene and also linked to ichthyosis? |
819,727 | Which U.S. state has banned the use of lindane for treating scabies? |
256,633 | Is the gene that causes phenylketonuria located on chromosome 17? |
345,404 | Which enzyme, found in nearly all living cells, is released during tissue damage and can be used as a marker for hemolysis in hereditary spherocytosis? |
328,767 | What alternative medical practice has been shown to cause lipid pneumonia? |
312,960 | Which gene mutation is associated with kidney anomalies in EEC syndrome? |
169,778 | What is a common symptom in patients with situs ambiguus that can be linked to the stomach's abnormal positioning? |
439,648 | Which gene mutation on chromosome 14 is associated with hypertrophic cardiomyopathy and can lead to syncope? |
983,522 | On which human chromosome is the gene that causes infantile systemic hyalinosis located? |
757,488 | Which human chromosome contains the gene that encodes the protein involved in the coagulation cascade and is listed in the OMIM database? |
870,479 | Which nerve is involved in the Chvostek's sign observed in hypoparathyroidism? |
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