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What causes Dextrocardia with situs inversus ? | What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the b... | [
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What causes Rheumatic Fever ? | What causes rheumatic fever? Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever. Although group A Streptococcus ba... | [
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What are the symptoms of Sudden Cardiac Arrest ? | Usually, the first sign of sudden cardiac arrest (SCA) is loss of consciousness (fainting). At the same time, no heartbeat (or pulse) can be felt.
Some people may have a racing heartbeat or feel dizzy or light-headed just before they faint. Within an hour before SCA, some people have chest pain, shortn... | [
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What are the symptoms of Stroke ? | Warning signs are clues your body sends to tell you that your brain is not receiving enough oxygen. These are warning signs of a stroke, or brain attack: - sudden numbness or weakness of the face, arm, or leg, especially on one side of the body - sudden confusion, trouble speaking or understanding - sudden trouble se... | [
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What are the genetic changes related to phosphoribosylpyrophosphate synthetase superactivity ? | Certain mutations in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in producing purine and pyrimid... | [
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What are the treatments for Syringoma ? | How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider. | [
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What are the treatments for spondyloepiphyseal dysplasia congenita ? | These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scol... | [
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Is Carnitine-acylcarnitine translocase deficiency inherited ? | How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency 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 t... | [
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What to do for Proctitis ? | Drinking plenty of fluids is important when diarrhea or frequent passage of loose or liquid stools occurs.
Avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen diarrhea symptoms. Some people also have problems digesting lactosethe sugar found in milk and milk productsduring o... | [
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How to prevent Parasites - Enterobiasis (also known as Pinworm Infection) ? | Washing your hands with soap and warm water after using the toilet, changing diapers, and before handling food is the most successful way to prevent pinworm infection. In order to stop the spread of pinworm and possible re-infection, people who are infected should bathe every morning to help remove a large amount of th... | [
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How many people are affected by protein S deficiency ? | Mild protein S deficiency is estimated to occur in approximately 1 in 500 individuals. Severe protein S deficiency is rare; however, its exact prevalence is unknown. | [
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How many people are affected by Urinary Incontinence in Men ? | Urinary incontinence occurs in 11 to 34 percent of older men. Two to 11 percent of older men report daily UI.1 Although more women than men develop UI, the chances of a man developing UI increase with age because he is more likely to develop prostate problems as he ages. Men are also less likely to speak with a health ... | [
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Is VLCAD deficiency inherited ? | Is VLCAD deficiency inherited? VLCAD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carri... | [
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What causes Acquired Cystic Kidney Disease ? | Researchers do not fully understand what causes cysts to grow in the kidneys of people with CKD. The fact that these cysts occur only in the kidneys and not in other parts of the body, as in PKD, indicates that the processes that lead to cyst formation take place primarily inside the kidneys.2 | [
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What are the treatments for Surviving Cancer ? | Certain kinds of chemotherapy and medicines contribute to weight gain. Unfortunately, the usual ways people try to lose weight may not work. Ask your doctor about talking with a nutritionist who can help you plan a healthy diet, and about doing exercises that can help you regain muscle tone. | [
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Is surfactant dysfunction inherited ? | Surfactant dysfunction can have different inheritance patterns depending on its genetic cause. When caused by mutations in the SFTPB or ABCA3 gene, 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 autoso... | [
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What is (are) Pigmented villonodular synovitis ? | Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in ... | [
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What is (are) pseudohypoaldosteronism type 2 ? | Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and h... | [
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what research (or clinical trials) is being done for Familial Periodic Paralyses ? | The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them. | [
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how can hps be prevented for Hantavirus ? | Eliminate or minimize contact with rodents in your home, workplace, or campsite. If rodents don't find that where you are is a good place for them to be, then you're less likely to come into contact with them. Seal up holes and gaps in your home or garage. Place traps in and around your home to decrease rodent infestat... | [
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what research (or clinical trials) is being done for Isaacs' Syndrome ? | The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, t... | [
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What are the symptoms of Focal palmoplantar and gingival keratoderma ? | What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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What is the outlook for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? | Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following: - The type of ovarian cancer and how much cancer there is. - The stage and grade of the cancer. - Whether the patient has extra fluid in the abdome... | [
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How many people are affected by Legg-Calv-Perthes disease ? | The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15. | [
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What are the symptoms of Radial ray hypoplasia choanal atresia ? | What are the signs and symptoms of Radial ray hypoplasia choanal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial ray hypoplasia choanal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | [
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What is (are) hereditary multiple osteochondromas ? | Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 ... | [
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What is (are) Neurofibromatosis ? | Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Us... | [
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Is myasthenia gravis inherited ? | In most cases, myasthenia gravis is not inherited and occurs in people with no history of the disorder in their family. About 3 to 5 percent of affected individuals have other family members with myasthenia gravis or other autoimmune disorders, but the inheritance pattern is unknown. | [
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What is (are) Cataract ? | A cataract is a clouding of the lens in the eye that affects vision. Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye ... | [
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What are the symptoms of Lissencephaly X-linked ? | What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. 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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Who is at risk for Hepatitis B: What Asian and Pacific Islander Americans Need to Know? ? | Since 1986, a hepatitis B vaccine has been available and should be given to newborns and children in the United States. The vaccine, however, is unavailableor has only recently become availablein many parts of the world. You are at higher risk for hepatitis B if you or your mother was born in a region of the world wher... | [
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What is (are) Cartilage Disorders ? | Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as your ears, nose and windpipe. Healthy cartilage helps you move by allowing your bones to glide over each other. It also protects bones by preventing them from ru... | [
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Is C3 glomerulopathy inherited ? | Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the ... | [
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What causes Dry Eye ? | If your eyes dont make enough tears it can cause dry eye. Anything that changes the components of tears can cause dry eye. Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of eye surgery, environmental factors, and allergies. | [
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Is Czech dysplasia inherited ? | Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. All known individuals with Czech dysplasia inherited the mutation from a parent with the condition. | [
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What is the outlook for Occipital Neuralgia ? | Occipital neuralgia is not a life-threatening condition. Many individuals will improve with therapy involving heat, rest, anti-inflammatory medications, and muscle relaxants. Recovery is usually complete after the bout of pain has ended and the nerve damage repaired or lessened. | [
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What is (are) Geniospasm ? | Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency... | [
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What are the genetic changes related to Leber hereditary optic neuropathy ? | Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount ... | [
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What is (are) Meningitis and Encephalitis ? | Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Causes of encephalitis and meningitis include viruses, bacteria, fungus, and parasites. Anyone can get encephalitis or meningitis.Inflammation from encephalitis and mening... | [
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What are the treatments for Multicentric reticulohistiocytosis ? | How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many diff... | [
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What are the treatments for High Blood Cholesterol ? | There are two main ways to lower your cholesterol: Therapeutic Lifestyle Changes and medicines. | [
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How many people are affected by mucolipidosis type IV ? | Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry. | [
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How to diagnose Zollinger-Ellison Syndrome ? | A health care provider diagnoses Zollinger-Ellison syndrome based on the following:
- medical history - physical exam - signs and symptoms - blood tests - upper gastrointestinal (GI) endoscopy - imaging tests to look for gastrinomas - measurement of stomach acid
Medical History
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What to do for Short Bowel Syndrome ? | Researchers have not found that eating, diet, and nutrition play a role in causing or preventing short bowel syndrome. | [
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What are the treatments for Tylosis with esophageal cancer ? | How might Tylosis with esophageal cancer be treated? Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. Topical t... | [
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Is Camurati-Engelmann disease inherited ? | How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene... | [
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What is (are) High Blood Cholesterol ? | A desirable level for LDL (bad) cholesterol is under 100 mg/dL. Here are the ranges for LDL cholesterol levels. Do you know how your LDL level compares? | [
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Do you have information about Women's Health | Summary : Women have unique health issues. And some of the health issues that affect both men and women can affect women differently. Unique issues include pregnancy, menopause, and conditions of the female organs. Women can have a healthy pregnancy by getting early and regular prenatal care. They should also get re... | [
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What are the treatments for Bietti crystalline dystrophy ? | These resources address the diagnosis or management of Bietti crystalline dystrophy: - Gene Review: Gene Review: Bietti Crystalline Dystrophy - Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health... | [
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Is Spondylothoracic dysostosis inherited ? | Is spondylothoracic dysostosis genetic? Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion. | [
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What is the outlook for Gerstmann-Straussler-Scheinker Disease ? | GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow. | [
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What are the symptoms of Torticollis, familial ? | What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. 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 D... | [
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What is (are) Common Cold ? | Sneezing, sore throat, a stuffy nose, coughing - everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. You can get a cold by touching your eyes or nose after you touch surfaces with cold germs on them. You ... | [
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What are the treatments for Wolff-Parkinson-White syndrome ? | These resources address the diagnosis or management of Wolff-Parkinson-White syndrome: - Genetic Testing Registry: Wolff-Parkinson-White pattern - MedlinePlus Encyclopedia: Wolff-Parkinson-White syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | [
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what research (or clinical trials) is being done for Shingles ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand ... | [
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What are the treatments for Acromegaly ? | Currently, treatment options include surgical removal of the tumor, medical therapy, and radiation therapy of the pituitary.
Goals of treatment are to
- reduce excess hormone production to normal levels - relieve the pressure that the growing pituitary tumor may be exerting on the sur... | [
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What is (are) 15q13.3 microdeletion ? | 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric d... | [
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What are the treatments for Parasites - American Trypanosomiasis (also known as Chagas Disease) ? | Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment.
For cardiac or gastrointestinal problems resu... | [
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What are the symptoms of Urinary Tract Infections in Children ? | Symptoms of a UTI range from slight burning with urination or unusual-smelling urine to severe pain and high fever. A child with a UTI may also have no symptoms. A UTI causes irritation of the lining of the bladder, urethra, ureters, and kidneys, just as the inside of the nose or the throat becomes irritated with a col... | [
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Is Holt-Oram syndrome inherited ? | How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) 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. In most cases, the mutation in the gene occurs for the first tim... | [
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What are the genetic changes related to Miller-Dieker syndrome ? | Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers are working ... | [
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What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? | What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability syndrome. If the information is available, the table below includes how often the symptom ... | [
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what research (or clinical trials) is being done for Pseudotumor Cerebri ? | The NINDS conducts and supports research on disorders of the brain and nervous system, including pseudotumor cerebri. This research focuses primarily on increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them. | [
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What are the symptoms of Paroxysmal ventricular fibrillation ? | What are the signs and symptoms of Paroxysmal ventricular fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal ventricular fibrillation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What is (are) Chiari malformation type 1 ? | Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem.... | [
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What to do for Pyelonephritis: Kidney Infection ? | Eating, diet, and nutrition have not been shown to play a role in causing or preventing pyelonephritis. | [
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what research (or clinical trials) is being done for Alzheimer's Disease ? | Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. In Alzheimers disease, basic research seeks to identify the cellular, molecular, and genetic processes that lead to the disease. For example, scientists are studying - the ways in which plaques an... | [
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What are the treatments for beta-mannosidosis ? | These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... | [
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What are the symptoms of 46,XX testicular disorder of sex development ? | What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. If the information is available, the table below includes how often the symptom is seen in people with this co... | [
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How to prevent Aneurysm ? | The best way to prevent an aortic aneurysm is to avoid the factors that put you at higher risk for one. You cant control all aortic aneurysm risk factors, but lifestyle changes can help you lower some risks.
For example, if you smoke, try to quit. Talk with your doctor about programs and products that ... | [
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What are the treatments for color vision deficiency ? | These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism - Genetic Testing Registry: Protan defect - Genetic Testing R... | [
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How many people are affected by hemophilia ? | The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. | [
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What is (are) Congenital myasthenic syndrome ? | Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: post... | [
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What is (are) Robinow syndrome ? | Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. ... | [
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What are the complications of Ectopic Kidney ? | Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Sometimes, urine can even flow backwards from the bladder to the kidney, a problem called vesicoureteral reflux (VUR). More information about VUR is provided in the NIDDK health topic, Vesicoureteral Reflux.
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What is (are) Mouth Disorders ? | Your mouth is one of the most important parts of your body. Any problem that affects your mouth can make it hard to eat, drink or even smile. Some common mouth problems include - Cold sores - painful sores on the lips and around the mouth, caused by a virus - Canker sores - painful sores in the mouth, caus... | [
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How many people are affected by hyperlysinemia ? | The incidence of hyperlysinemia is unknown. | [
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What causes Heart Failure ? | Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure. | [
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What is (are) Hepatoblastoma ? | Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained w... | [
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Is Erdheim-Chester disease inherited ? | This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime. | [
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What are the genetic changes related to Alexander disease ? | Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the product... | [
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How many people are affected by North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported. | [
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Is Cole disease 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. In most cases of this disorder, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in peop... | [
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Is myostatin-related muscle hypertrophy inherited ? | Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the MSTN gene in each cell (heterozygo... | [
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What are the symptoms of Optic atrophy 1 ? | What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1. 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 Dictionary to... | [
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What causes Thalassemia ? | What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provid... | [
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What is (are) Mucopolysaccharidosis type IIIB ? | Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can... | [
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What is (are) Menkes Disease ? | Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be bor... | [
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What are the symptoms of Microphthalmia microtia fetal akinesia ? | What are the signs and symptoms of Microphthalmia microtia fetal akinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia microtia fetal akinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | [
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What are the treatments for Stormorken syndrome ? | These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... | [
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What are the genetic changes related to nephrogenic diabetes insipidus ? | The hereditary form of nephrogenic diabetes insipidus can be caused by mutations in at least two genes. About 90 percent of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene. Most of the remaining 10 percent of cases are caused by mutations in the AQP2 gene. Both of these ge... | [
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How many people are affected by Miller syndrome ? | Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature. | [
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Is Swyer syndrome inherited ? | Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. SRY-... | [
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What is (are) ataxia with oculomotor apraxia ? | Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. ... | [
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What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how ofte... | [
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What is (are) Neuropathy ataxia retinitis pigmentosa syndrome ? | Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and proble... | [
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What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ? | CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. The RYR2 and CASQ2... | [
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What causes 2q37 deletion syndrome ? | What causes 2q37 deletion syndrome? 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and s... | [
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What are the symptoms of Spondyloepiphyseal dysplasia ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia. 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 are the genetic changes related to diastrophic dysplasia ? | Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton duri... | [
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