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How many people are affected by short-chain acyl-CoA dehydrogenase deficiency ? | This disorder is thought to affect approximately 1 in 35,000 to 50,000 newborns. |
How many people are affected by 18q deletion syndrome ? | 18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds. |
How many people are affected by Wiskott-Aldrich syndrome ? | The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females. |
How many people are affected by Donnai-Barrow syndrome ? | Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world. |
How many people are affected by Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer than 100 affected individuals have been described in the medical literature. |
How many people are affected by complement component 2 deficiency ? | In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown. |
How many people are affected by Lesch-Nyhan syndrome ? | The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations. |
How many people are affected by distal hereditary motor neuropathy, type II ? | The prevalence of distal hereditary motor neuropathy, type II is unknown. At least 25 affected families have been identified worldwide. |
How many people are affected by 3-beta-hydroxysteroid dehydrogenase deficiency ? | The exact prevalence of 3-HSD deficiency is unknown. At least 60 affected individuals have been reported. |
Is distal myopathy 2 inherited ? | Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder. |
How many people are affected by Problems with Taste ? | Roughly 200,000 people each year visit a doctor for a chemosensory problem such as a taste disorder. Many more taste disorders go unreported. |
What is the outlook for Spinal Cord Infarction ? | Recovery depends upon how quickly treatment is received and how severely the body is compromised. Paralysis may persist for many weeks or be permanent. Most individuals have a good chance of recovery. |
What is the outlook for Acid Lipase Disease ? | Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood. |
What is the outlook for Anencephaly ? | The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. |
What is the outlook for Encephaloceles ? | The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations. |
What are the treatments for Sandhoff Disease ? | There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures. |
What are the treatments for Megalencephaly ? | There is no standard treatment for megalencephaly. Treatment will depend upon the disorder with which the megalencephaly is associated and will address individual symptoms and disabilities. |
What is the outlook for Learning Disabilities ? | Learning disabilities can be lifelong conditions. In some people, several overlapping learning disabilities may be apparent. Other people may have a single, isolated learning problem that has little impact on their lives. |
What are the treatments for Dyslexia ? | The main focus of treatment should be on the specific learning problems of affected individuals. The usual course is to modify teaching methods and the educational environment to meet the specific needs of the individual with dyslexia. |
How many people are affected by Wagner syndrome ? | Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands. |
How many people are affected by X-linked adrenal hypoplasia congenita ? | X-linked adrenal hypoplasia congenita is estimated to affect 1 in 12,500 newborns. |
How many people are affected by TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described. |
How many people are affected by phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature. |
How many people are affected by ophthalmo-acromelic syndrome ? | The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature. |
How many people are affected by familial dilated cardiomyopathy ? | It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial. |
Is Crohn disease inherited ? | The inheritance pattern of Crohn disease is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a significant risk factor for the disease. |
How many people are affected by adult polyglucosan body disease ? | Adult polyglucosan body disease is a rare condition; although its exact prevalence is unknown, at least 50 affected individuals have been described in the medical literature. |
How many people are affected by 9q22.3 microdeletion ? | 9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature. |
How many people are affected by congenital contractural arachnodactyly ? | The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide. |
How many people are affected by Birt-Hogg-Dub syndrome ? | Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families. |
How many people are affected by Rothmund-Thomson syndrome ? | Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies. |
What are the symptoms of Acquired Cystic Kidney Disease ? | A person with acquired cystic kidney disease often has no symptoms. However, the complications of acquired cystic kidney disease can have signs and symptoms. |
What causes Hearing Loss ? | Hearing loss can result from taking certain medications. "Ototoxic" medications damage the inner ear, sometimes permanently. Check with your doctor if you notice a problem while taking a medication. |
What is (are) Creating a Family Health History ? | A family health history is a written record of the diseases and health conditions within a family. It provides information about family members' medical histories, lifestyle habits, and early living environments. |
Is Frontal fibrosing alopecia inherited ? | Is frontal fibrosing alopecia inherited? Frontal fibrosing alopecia is not thought to be inherited in most cases. It rarely affects more than one person in a family. |
what research (or clinical trials) is being done for Cushing's Syndrome ? | NINDS supports research on Cushing's syndrome aimed at finding new ways to diagnose, treat, and cure the disorder. |
What is the outlook for CADASIL ? | Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have cognitive problems and dementia. Some will become dependent due to multiple strokes. |
What is the outlook for Moebius Syndrome ? | There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy. |
What are the treatments for Neuronal Migration Disorders ? | Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies. |
What is the outlook for Neuroacanthocytosis ? | Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia. |
How many people are affected by arterial tortuosity syndrome ? | Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. About 100 cases have been reported in the medical literature. |
How many people are affected by esophageal atresia/tracheoesophageal fistula ? | EA/TEF occurs in 1 in 3,000 to 5,000 newborns. |
How many people are affected by uromodulin-associated kidney disease ? | The prevalence of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease. |
How many people are affected by Stickler syndrome ? | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition. |
How many people are affected by chronic granulomatous disease ? | Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide. |
How many people are affected by neuromyelitis optica ? | Neuromyelitis optica affects approximately 1 to 2 per 100,000 people worldwide. Women are affected by this condition more frequently than men. |
How many people are affected by Nakajo-Nishimura syndrome ? | Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature. |
How many people are affected by glutaric acidemia type II ? | Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups. |
How many people are affected by isolated growth hormone deficiency ? | The incidence of isolated growth hormone deficiency is estimated to be 1 in 4,000 to 10,000 individuals worldwide. |
How many people are affected by hereditary sensory and autonomic neuropathy type IE ? | HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world. |
How many people are affected by Aarskog-Scott syndrome ? | Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed. |
How many people are affected by Christianson syndrome ? | Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world. |
How many people are affected by autosomal recessive congenital stationary night blindness ? | Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. |
How many people are affected by Saethre-Chotzen syndrome ? | Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to 50,000 people. |
How many people are affected by phosphoglycerate dehydrogenase deficiency ? | This condition is likely a rare disorder, but its prevalence is unknown. At least 15 cases have been described in the scientific literature. |
How many people are affected by enlarged parietal foramina ? | The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals. |
Is familial atrial fibrillation inherited ? | Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
How many people are affected by Andersen-Tawil syndrome ? | Andersen-Tawil syndrome is a rare genetic disorder; its incidence is unknown. About 100 people with this condition have been reported worldwide. |
How many people are affected by X-linked sideroblastic anemia and ataxia ? | X-linked sideroblastic anemia and ataxia is a rare disorder; only a few affected families have been reported. |
How many people are affected by actin-accumulation myopathy ? | Actin-accumulation myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. |
How many people are affected by paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people. |
Who is at risk for Colorectal Cancer? ? | Yes. Ulcerative colitis is a condition in which there is a chronic break in the lining of the colon. It has been associated with an increased risk of colon cancer. |
How to diagnose Autoimmune hepatitis ? | How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy. |
What is the outlook for Neuronal Migration Disorders ? | The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms. |
How many people are affected by pachyonychia congenita ? | Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder. |
Is hereditary neuropathy with liability to pressure palsies inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
How many people are affected by metatropic dysplasia ? | Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature. |
Is 8p11 myeloproliferative syndrome inherited ? | This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. |
How many people are affected by beta-ketothiolase deficiency ? | Beta-ketothiolase deficiency appears to be very rare. It is estimated to affect fewer than 1 in 1 million newborns. |
How many people are affected by hypermanganesemia with dystonia, polycythemia, and cirrhosis ? | The prevalence of HMDPC is unknown. A small number of cases have been described in the scientific literature. |
How many people are affected by autosomal dominant hypocalcemia ? | The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms. |
How many people are affected by Rubinstein-Taybi syndrome ? | This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns. |
How many people are affected by hyperphosphatemic familial tumoral calcinosis ? | The prevalence of HFTC is unknown, but it is thought to be a rare condition. It occurs most often in Middle Eastern and African populations. |
How many people are affected by ALG1-congenital disorder of glycosylation ? | ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature. |
How many people are affected by congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature. |
How many people are affected by multiple sulfatase deficiency ? | Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. Approximately 50 cases have been reported in the scientific literature. |
How many people are affected by hereditary myopathy with early respiratory failure ? | HMERF is a rare condition. It has been reported in several families of Swedish and French descent, and in at least one individual from Italy. |
How many people are affected by intranuclear rod myopathy ? | Intranuclear rod myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. |
How many people are affected by white sponge nevus ? | The exact prevalence of white sponge nevus is unknown, but it is estimated to affect less than 1 in 200,000 individuals worldwide. |
How many people are affected by combined pituitary hormone deficiency ? | The prevalence of combined pituitary hormone deficiency is estimated to be 1 in 8,000 individuals worldwide. |
How many people are affected by congenital myasthenic syndrome ? | The prevalence of congenital myasthenic syndrome is unknown. At least 600 families with affected individuals have been described in the scientific literature. |
How many people are affected by craniofacial-deafness-hand syndrome ? | Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a few cases have been reported in the scientific literature. |
How many people are affected by Weill-Marchesani syndrome ? | Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people. |
How many people are affected by maternally inherited diabetes and deafness ? | About 1 percent of people with diabetes have MIDD. The condition is most common in the Japanese population and has been found in populations worldwide. |
How many people are affected by histidinemia ? | Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people. |
How many people are affected by ornithine transcarbamylase deficiency ? | Ornithine transcarbamylase deficiency is believed to occur in approximately 1 in every 80,000 people. |
How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? | IPEX syndrome is a rare disorder; its prevalence is unknown. |
What to do for Whipple Disease ? | A person with Whipple disease and malabsorption may need
- a diet high in calories and protein - vitamins - nutritional supplements |
What to do for Zollinger-Ellison Syndrome ? | Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Zollinger-Ellison syndrome. |
Is Mucopolysaccharidosis type I inherited ? | How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern. |
Is Chandler's syndrome inherited ? | Is Chandler's syndrome inherited? While the cause of Chandler's syndrome is unknown, at this time there is no evidence that it is inherited (hereditary). |
What is the outlook for Developmental Dyspraxia ? | Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy. |
What are the treatments for Encephalitis Lethargica ? | Treatment for encephalitis lethargica is symptomatic. Levodopa and other antiparkinson drugs often produce dramatic responses. |
How many people are affected by infantile-onset spinocerebellar ataxia ? | More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe. |
How many people are affected by deoxyguanosine kinase deficiency ? | The prevalence of deoxyguanosine kinase deficiency is unknown. Approximately 100 affected individuals have been identified. |
How many people are affected by genitopatellar syndrome ? | Genitopatellar syndrome is estimated to occur in fewer than 1 per million people. At least 18 cases have been reported in the medical literature. |
How many people are affected by ADCY5-related dyskinesia ? | The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature. |
How many people are affected by 8p11 myeloproliferative syndrome ? | The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition. |
How many people are affected by CAV3-related distal myopathy ? | The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature. |
How many people are affected by multicentric osteolysis, nodulosis, and arthropathy ? | MONA is rare; its prevalence is unknown. This condition has been reported in multiple populations worldwide. |
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