question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
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How many people are affected by aromatase excess syndrome ? | The prevalence of aromatase excess syndrome is unknown; more than 20 cases have been described in the medical literature. | [
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What is (are) Mycetoma ? | Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and ... | [
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How to diagnose Parasites - Cysticercosis ? | If you think that you may have cysticercosis, please see your health care provider. Your health care provider will ask you about your symptoms, where you have travelled, and what kinds of foods you eat. The diagnosis of neurocysticercosis usually requires MRI or CT brain scans. Blood tests may be useful to help diagnos... | [
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What are the genetic changes related to hereditary myopathy with early respiratory failure ? | HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomere... | [
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What are the treatments for Kidney Disease ? | Kidney disease can get worse over time, and may lead to kidney failure. Kidney failure means advanced kidney damage with less than 15% normal function. Most people with kidney failure have symptoms from the build up of waste products and extra water in their body. End-stage renal disease (ESRD) is kidney failure treate... | [
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Is purine nucleoside phosphorylase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What is (are) paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last secon... | [
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what research (or clinical trials) is being done for Microcephaly ? | The National Institute of Neurological Disorders and Stroke (NINDS), one of several institutes of the National Institutes of Health (NIH), conducts and funds research aimed at understanding normal brain development, as well as disease-related disorders of the brain and nervous system. Other NIH institutes and centers a... | [
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What is (are) Nablus mask-like facial syndrome ? | Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pa... | [
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What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ? | What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. If the information is available, the table below includes how often the symptom is seen in people wi... | [
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What is (are) Florid cemento-osseous dysplasia ? | Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the... | [
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What is (are) Cholesteatoma ? | Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from ... | [
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What is (are) Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually le... | [
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What are the treatments for Achalasia ? | How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium ch... | [
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What is (are) Nausea and Vomiting ? | Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemo... | [
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Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ? | Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. How... | [
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What is (are) multiminicore disease ? | Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Researchers have identified at least four forms of multiminicore disease, which can be distinguished by th... | [
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What is (are) neutral lipid storage disease with myopathy ? | Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a we... | [
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What are the treatments for 5-alpha reductase deficiency ? | These resources address the diagnosis or management of 5-alpha reductase deficiency: - Genetic Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the d... | [
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What is (are) Lymphedema-distichiasis syndrome ? | Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphe... | [
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What are the treatments for globozoospermia ? | These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: As... | [
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What are the symptoms of 3 methylglutaconic aciduria type V ? | What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | [
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What causes Varicose Veins ? | Weak or damaged valves in the veins can cause varicose veins. After your arteries and capillaries deliver oxygen-rich blood to your body, your veins return the blood to your heart. The veins in your legs must work against gravity to do this.
One-way valves inside the veins open to let blood flow throug... | [
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What are the treatments for Dyssynergia Cerebellaris Myoclonica ? | Treatment of Dyssynergia Cerebellaris Myoclonica is symptomatic. Myoclonus and seizures may be treated with drugs like valproate. | [
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How many people are affected by Jacobsen syndrome ? | The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported. | [
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What is (are) Eisenmenger syndrome ? | Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blo... | [
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What is (are) Leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symp... | [
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Is Tylosis with esophageal cancer inherited ? | How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition. | [
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What is (are) Migraine ? | If you suffer from migraine headaches, you're not alone. About 12 percent of the U.S. population gets them. Migraines are recurring attacks of moderate to severe pain. The pain is throbbing or pulsing, and is often on one side of the head. During migraines, people are very sensitive to light and sound. They may also be... | [
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How many people are affected by lysinuric protein intolerance ? | Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns in Finland and 1 in 57,000 newborns in Japan. Outside these populations this condition occurs less frequently, but the exact incidence is unknown. | [
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What is (are) 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed developmen... | [
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Is Williams syndrome inherited ? | Is Williams syndrome inherited? | [
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What are the symptoms of Meckel syndrome type 2 ? | What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | [
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What are the symptoms of Fuhrmann syndrome ? | What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | [
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What is (are) Cluttering ? | Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and a... | [
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What is (are) Vesicoureteral Reflux ? | The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the childs development in the womb. The valve formed by the ureter pressing against the bladder wall does no... | [
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What is the outlook for Pituitary Tumors ? | If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). Early diagnosis and treatment is the key to a goo... | [
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What are the treatments for Age-related Macular Degeneration ? | Wet AMD can be treated with laser surgery, photodynamic therapy, and drugs that are injected into the eye. None of these treatments is a cure for wet AMD. The disease and loss of vision may progress despite treatment. | [
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What is (are) cone-rod dystrophy ? | Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina grad... | [
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what research (or clinical trials) is being done for Neurosyphilis ? | The National Institute of Neurological Disorders and Stroke supports and conducts research on neurodegenerative disorders, such as neurosyphilis, in an effort to find ways to prevent, treat, and ultimately cure these disorders. | [
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How many people are affected by Bannayan-Riley-Ruvalcaba syndrome ? | The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle. | [
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What to do for Graves' Disease ? | Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library available at www.nutrition.gov.
Dietary Supplements
Iodine is an essential mineral for the thyroid. However, people wit... | [
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What is (are) Parasites - Trichinellosis (also known as Trichinosis) ? | Trichinellosis, also called trichinosis, is caused by eating raw or undercooked meat of animals infected with the larvae of a species of worm called Trichinella. Infection occurs commonly in certain wild carnivorous (meat-eating) animals such as bear or cougar, or omnivorous (meat and plant-eating) animals such as dome... | [
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What are the treatments for Tracheobronchomalacia ? | How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial t... | [
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Do you have information about Food Labeling | Summary : Most packaged foods in the U.S. have food labels. On every food label you will see - Serving size, number of servings, and number of calories per serving - Information on the amount of dietary fat, cholesterol, dietary fiber, dietary sodium, carbohydrates, dietary proteins, vitamins, and minerals in... | [
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What are the symptoms of Hypopharyngeal Cancer ? | Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by hypopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. - Ear pain. - A lump in the neck... | [
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What are the treatments for primary hyperoxaluria ? | These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Genetic Testing Registry: Hyperoxaluria - Genetic Testing Regist... | [
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What are the symptoms of Diffuse mesangial sclerosis ? | What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | [
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What is (are) Renal Artery Stenosis ? | Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body.
RVH is high ... | [
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What are the treatments for Striatonigral Degeneration ? | There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, t... | [
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What are the treatments for Rh Incompatibility ? | Rh incompatibility is treated with a medicine called Rh immune globulin. Treatment for a baby who has hemolytic anemia will vary based on the severity of the condition.
Goals of Treatment
The goals of treating Rh incompatibility are to ensure that your baby is healthy and to lower your... | [
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What are the symptoms of Microgastria limb reduction defect ? | What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | [
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What is (are) X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (... | [
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Is Doyne honeycomb retinal dystrophy inherited ? | How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal ... | [
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What is (are) Age-related Macular Degeneration ? | Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as... | [
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What are the treatments for Weill-Marchesani syndrome ? | How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists... | [
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What are the symptoms of Fetal hydantoin syndrome ? | What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. ... | [
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What are the symptoms of Amyotrophic lateral sclerosis type 6 ? | What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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What is (are) white sponge nevus ? | White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affect... | [
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What are the symptoms of Xeroderma pigmentosum type 7 ? | What are the signs and symptoms of Xeroderma pigmentosum type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Xeroderma pigmentosum type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ? | Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You w... | [
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Is 1p36 deletion syndrome inherited ? | Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 20 percent of people w... | [
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What are the symptoms of Essential Thrombocythemia ? | Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. Check with your doctor if you have any of the... | [
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What are the treatments for Salih myopathy ? | These resources address the diagnosis or management of Salih myopathy: - Gene Review: Gene Review: Salih Myopathy - Genetic Testing Registry: Myopathy, early-onset, with fatal cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | [
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How many people are affected by Hearing Loss ? | Approximately 17 percent, or 36 million, of American adults say that they have some degree of hearing loss. Hearing loss is a common condition in older adults. Roughly one-third of Americans 65 to 74 years of age and 47 percent of those 75 and older have hearing loss. | [
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What are the treatments for isolated growth hormone deficiency ? | These resources address the diagnosis or management of isolated growth hormone deficiency: - Genetic Testing Registry: Ateleiotic dwarfism - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency - Genetic Testing Registry: Isolated growth hormone deficiency type 1B - Genetic Testing Registry... | [
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What is (are) Locked-In Syndrome ? | Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells,... | [
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What is the outlook for Cushing's Syndrome ? | The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. Some... | [
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What causes Achondrogenesis ? | What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is important for the normal develop... | [
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What are the genetic changes related to arrhythmogenic right ventricular cardiomyopathy ? | ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. Mutations in the genes respon... | [
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Is hyperferritinemia-cataract syndrome 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. | [
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Is Autoimmune atrophic gastritis inherited ? | Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal domi... | [
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What are the treatments for Pudendal Neuralgia ? | What treatments are available for pudendal neuralgia? There are no established guidelines for the treatment of pudendal neuralgia. Treatment may include medications, the use of a specialized cushion while sitting, nerve block, surgery to remove nearby tissues that may be pressing on the pudendal nerve, or nerve stimul... | [
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What are the treatments for Cirrhosis ? | Treatment for cirrhosis depends on the cause of the disease and whether complications are present. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospital... | [
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what research (or clinical trials) is being done for Prostate Cancer ? | Scientists continue to look at new ways to prevent, treat, and diagnose prostate cancer. Research has already led to a number of advances in these areas. Dietary Research Several studies are under way to explore the causes of prostate cancer. Some researchers think that diet may affect a man's chances of developing pro... | [
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What causes Gas in the Digestive Tract ? | Most foods that contain carbohydrates can cause gas. In contrast, fats and proteins cause little gas. Foods that produce gas in one person may not cause gas in someone else, depending on how well individuals digest carbohydrates and the type of bacteria present in the intestines.
Some foods that may ca... | [
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How many people are affected by epidermal nevus ? | Epidermal nevi affect approximately 1 in 1,000 people. | [
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How many people are affected by Koolen-de Vries syndrome ? | The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed. | [
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What is (are) Lipoid Proteinosis ? | Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. The symptoms of LP may begin as early as infancy with hoarsen... | [
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what research (or clinical trials) is being done for Hairy Cell Leukemia ? | New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part... | [
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Is autosomal dominant hyper-IgE syndrome inherited ? | AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. Other cases result from new mutations in ... | [
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What is (are) Peptic Ulcer ? | A peptic ulcer is a sore in the lining of your stomach or your duodenum, the first part of your small intestine. A burning stomach pain is the most common symptom. The pain - Starts between meals or during the night - Briefly stops if you eat or take antacids - Lasts for minutes to hours - Comes and goes... | [
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What is (are) High Blood Pressure ? | Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. If your blood pressure rises and stays high over time, its called high blood pressure. High blood pressure is dangerous because it makes the heart work too hard, and the high force of the blood flow can harm ar... | [
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What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ? | What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures syndrome. If the information is available, the table below includes how often ... | [
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What are the symptoms of Rutherfurd syndrome ? | What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | [
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What is (are) Joubert Syndrome ? | Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid b... | [
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What causes Chronic hiccups ? | What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also b... | [
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What is (are) Myotonia Congenita ? | Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particular... | [
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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. | [
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What are the treatments for Adult Non-Hodgkin Lymphoma ? | Key Points
- There are different types of treatment for patients with non-Hodgkin lymphoma. - Patients with non-Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating lymphomas. - Patients may develop late effects that appear months... | [
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How many people are affected by X-linked juvenile retinoschisis ? | The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide. | [
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What is (are) Cavernous Malformation ? | Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a s... | [
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What causes Hemochromatosis ? | The two types of hemochromatosis are primary and secondary. Each type has a different cause.
Primary Hemochromatosis
Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. This form of the disease sometimes is called hereditary or cl... | [
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Is 5q minus 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. Affected people typically have no history of the disorder in their family. | [
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Is hereditary antithrombin deficiency inherited ? | Hereditary antithrombin deficiency is typically inherited in an autosomal dominant pattern, which means one altered copy of the SERPINC1 gene in each cell is sufficient to cause the disorder. Inheriting two altered copies of this gene in each cell is usually incompatible with life; however, a few severely affected indi... | [
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What are the genetic changes related to granulomatosis with polyangiitis ? | The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factor... | [
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What are the genetic changes related to juvenile myoclonic epilepsy ? | The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and the EFHC1 gene, although mutations in at least three other genes have been identified i... | [
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What is (are) AL amyloidosis ? | AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, ... | [
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What are the symptoms of Madelung disease ? | What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow r... | [
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What are the treatments for juvenile Batten disease ? | These resources address the diagnosis or management of juvenile Batten disease: - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center - Batten Disease Support and Research Association: Centers of Excellence - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses -... | [
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