QIDX
int64
100k
1,000k
Question
stringlengths
33
386
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?