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What is (are) Obesity ? | Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat m... | [
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What are the treatments for oculofaciocardiodental syndrome ? | These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... | [
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What are the symptoms of Multiple epiphyseal dysplasia 4 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | [
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What are the symptoms of Orofaciodigital syndrome 8 ? | What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 8. 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... | [
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What are the treatments for Ovarian Low Malignant Potential Tumors ? | Key Points
- There are different types of treatment for patients with ovarian low malignant potential tumor. - Two types of standard treatment are used: - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about... | [
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What is (are) Dominant dystrophic epidermolysis bullosa ? | Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during ear... | [
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What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycem... | [
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How many people are affected by hereditary diffuse gastric cancer ? | Gastric cancer is the fourth most common form of cancer worldwide, affecting 900,000 people per year. HDGC probably accounts for less than 1 percent of these cases. | [
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What is (are) Trichomoniasis ? | Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. Symptoms in women include - Yellow-green or gray dis... | [
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Is Pendred syndrome inherited ? | How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited fro... | [
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What is (are) Tropical Spastic Paraparesis ? | For several decades the term tropical spastic paraparesis (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. The... | [
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What is (are) MECP2 duplication syndrome ? | MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscl... | [
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What is (are) Lysinuric protein intolerance ? | Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting... | [
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What is (are) adult polyglucosan body disease ? | Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition call... | [
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How to diagnose Paranasal Sinus and Nasal Cavity Cancer ? | Tests that examine the sinuses and nasal cavity are used to detect (find) and diagnose paranasal sinus and nasal cavity cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as l... | [
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What to do for What I need to know about Hepatitis C ? | - Hepatitis C is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis C, but some people are more likely to than others. - You could get hepatitis C through contact with an infected persons blood. - Most people do not have any symptoms until the hepatitis C virus causes liver dama... | [
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What are the symptoms of Silicosis ? | What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight los... | [
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What to do for Short Bowel Syndrome ? | - Short bowel syndrome is a group of problems related to poor absorption of nutrients. - People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. - The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead... | [
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Who is at risk for Hypopharyngeal Cancer? ? | Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with yo... | [
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What are the symptoms of Weaver syndrome ? | What are the signs and symptoms of Weaver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weaver 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 Dictionary to... | [
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What are the genetic changes related to neutral lipid storage disease with myopathy ? | Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. ... | [
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What are the treatments for Bethlem myopathy ? | How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. ... | [
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How to diagnose Prader-Willi syndrome ? | How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected... | [
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What is (are) Bietti crystalline dystrophy ? | Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline... | [
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What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ? | What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. If the information is available, the table below includes ho... | [
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What are the treatments for enlarged parietal foramina ? | These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Registry: Parietal foramina 2 - MedlinePlus Encyclopedia: Skull o... | [
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How to diagnose Renal nutcracker syndrome ? | How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urin... | [
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What is (are) Infectious arthritis ? | Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, ... | [
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What is (are) Neurocutaneous melanosis ? | Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most pati... | [
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What is (are) SLC4A1-associated distal renal tubular acidosis ? | SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid ... | [
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What are the symptoms of Reardon Wilson Cavanagh syndrome ? | What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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... | [
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Do you have information about Evaluating Health Information | Summary : Millions of consumers get health information from magazines, TV or the Internet. Some of the information is reliable and up to date; some is not. How can you tell the good from the bad? First, consider the source. If you use the Web, look for an "about us" page. Check to see who runs the site: Is it a bran... | [
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How many people are affected by congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. | [
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What is (are) Repetitive Motion Disorders ? | Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uni... | [
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What are the treatments for Paget's Disease of Bone ? | Early Diagnosis is Important Although there is no cure for Paget's disease of bone, it is treatable. Treatment is most effective when the disease is diagnosed early, before it causes major changes in the affected bones. The goal of treatment is to relieve bone pain and prevent the disease from progressing. Medications ... | [
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Who is at risk for Arrhythmia? ? | Arrhythmias are very common in older adults. Atrial fibrillation (a common type of arrhythmia that can cause problems) affects millions of people, and the number is rising.
Most serious arrhythmias affect people older than 60. This is because older adults are more likely to have heart disease and other... | [
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What are the genetic changes related to dilated cardiomyopathy with ataxia syndrome ? | Mutations in the DNAJC19 gene cause DCMA syndrome. The DNAJC19 gene provides instructions for making a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, it may regulate the transport of other proteins into and ou... | [
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What are the treatments for Laing distal myopathy ? | These resources address the diagnosis or management of Laing distal myopathy: - Gene Review: Gene Review: Laing Distal Myopathy - Genetic Testing Registry: Myopathy, distal, 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... | [
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Do you have information about Antidepressants | Summary : Antidepressants are medicines that treat depression. Your doctor can prescribe them for you. They work to balance some of the natural chemicals in our brains. It may take several weeks for them to help. There are several types of antidepressants. You and your doctor may have to try a few before finding what w... | [
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How many people are affected by Pfeiffer syndrome ? | Pfeiffer syndrome affects about 1 in 100,000 individuals. | [
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What to do for Gastroparesis ? | #NAME? | [
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What are the treatments for Prader-Willi syndrome ? | These resources address the diagnosis or management of Prader-Willi syndrome: - Gene Review: Gene Review: Prader-Willi Syndrome - Genetic Testing Registry: Prader-Willi syndrome - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Prader-Willi Syndrome These resources from MedlinePlus offer informati... | [
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What are the genetic changes related to spastic paraplegia type 31 ? | Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are t... | [
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What are the symptoms of Cronkhite-Canada disease ? | What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada disease. 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 Med... | [
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Who is at risk for Sarcoidosis? ? | Sarcoidosis affects people of all ages and races. However, it's more common among African Americans and Northern Europeans. In the United States, the disease affects African Americans somewhat more often and more severely than Whites.
Studies have shown that sarcoidosis tends to vary amongst ethnic gro... | [
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What are the genetic changes related to color vision deficiency ? | Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. They are found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light rece... | [
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What is (are) Wilms Tumor and Other Childhood Kidney Tumors ? | Key Points
- Childhood kidney tumors are diseases in which malignant (cancer) cells form in the tissues of the kidney. - There are many types of childhood kidney tumors. - Wilms Tumor - Renal Cell Cancer (RCC) - Rhabdoid Tumor of the Kidney - Clear Cell Sarcoma of the Kidney ... | [
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What are the treatments for Patulous Eustachian Tube ? | How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They ... | [
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What causes Multifocal choroiditis ? | What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area. | [
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What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? | What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with... | [
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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. | [
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What is (are) Stiff-Person Syndrome ? | Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often h... | [
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What are the symptoms of Microtia-Anotia ? | What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. 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 is (are) arterial tortuosity syndrome ? | Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel ab... | [
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What are the treatments for triple A syndrome ? | These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria These resources from MedlinePlus offer information about the diagnosis and management of variou... | [
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How to diagnose COPD ? | If you have not been exercising regularly, you should get the advice of your doctor before starting. The symptoms of COPD are different for each person. People with mild COPD may not have much difficulty walking or exercising. As the symptoms of COPD get worse over time, a person may have more difficulty with walking a... | [
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What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ? | What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. If the information is available, the table below includes how often ... | [
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How many people are affected by Loeys-Dietz syndrome ? | The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms. | [
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What is (are) frontometaphyseal dysplasia ? | Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syn... | [
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What are the symptoms of Patent ductus venosus ? | What are the signs and symptoms of Patent ductus venosus? The Human Phenotype Ontology provides the following list of signs and symptoms for Patent ductus venosus. 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 are the treatments for Alzheimer's Disease ? | People with Alzheimer's disease, those with mild cognitive impairment, those with a family history of Alzheimers, and healthy people with no memory problems who want to help scientists test new treatments may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain ... | [
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What causes Rh Incompatibility ? | A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive.
When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your ... | [
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What to do for Solitary Kidney ? | - When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are birth defects, surgical removal of a kidney, and kidney donation. - In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely... | [
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What are the treatments for Klippel-Feil syndrome ? | These resources address the diagnosis or management of Klippel-Feil syndrome: - Genetic Testing Registry: Klippel Feil syndrome - Genetic Testing Registry: Klippel-Feil syndrome 1, autosomal dominant - Genetic Testing Registry: Klippel-Feil syndrome 2, autosomal recessive - Genetic Testing Registry: Klippel-Feil sy... | [
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What is (are) Childhood Acute Lymphoblastic Leukemia ? | Key Points
- Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Past treatment for cancer and certain genetic cond... | [
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What is (are) Prescription Drug Abuse ? | If you take a medicine in a way that is different from what the doctor prescribed, it is called prescription drug abuse. It could be - Taking a medicine that was prescribed for someone else - Taking a larger dose than you are supposed to - Taking the medicine in a different way than you are supposed to. Thi... | [
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How to diagnose Dry Eye ? | Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily envi... | [
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What is (are) CAV3-related distal myopathy ? | CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and wea... | [
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what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ? | Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for can... | [
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How to prevent Endometrial Cancer ? | Key Points
- Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of endometrial cancer: - Endometrial hyperplasia - Estrogen - Tamoxifen - Obesity, weight gain, metabolic syndrome, and diabetes - ... | [
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What are the treatments for COL4A1-related brain small-vessel disease ? | These resources address the diagnosis or management of COL4A1-related brain small-vessel disease: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Brain small vessel disease with hemorrhage These resources from MedlinePlus offer information about the diagnosis and management of vario... | [
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What is (are) Gallbladder Diseases ? | Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbla... | [
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What are the symptoms of Wilson Disease ? | The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. Wilson disease is present at birth; however, the signs and symptoms of the disease do not appear until the copper builds up in the liver, the brain, or other organs.
When people have signs and symptoms, th... | [
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What are the treatments for Allan-Herndon-Dudley syndrome ? | These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedi... | [
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What causes Neurofibromatosis type 1 ? | What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is ... | [
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What are the symptoms of Pterygium of the conjunctiva and cornea ? | What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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How many people are affected by ALG12-congenital disorder of glycosylation ? | ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature. | [
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How to diagnose Laryngeal Cancer ? | Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer.The following tests and procedures may be used: - Physical exam of the throat and neck: An exam to check the throat and neck for abnormal areas. The doctor will feel the inside of the mouth with a glove... | [
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How many people are affected by Werner syndrome ? | Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people. | [
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What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? | What should I know about kidney transplantation?
The purpose of kidney transplantation is to surgically place a healthy kidney from a donora person who has just died or a living person, most often a family memberinto your body. A kidney from someone who has just died is a deceased donor kidney. A kidne... | [
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What are the treatments for Shingles ? | Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash. At the early stage of sh... | [
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Is paramyotonia congenita 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 many cases, an affected person has one parent with the condition. | [
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What is (are) Barotrauma ? | Barotrauma means injury to your body because of changes in barometric (air) or water pressure. One common type happens to your ear. A change in altitude may cause your ears to hurt. This can happen if you are flying in an airplane, driving in the mountains, or scuba diving. Divers can also get decompression sickness, w... | [
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Is CHARGE syndrome inherited ? | CHARGE syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. In rare cases, an affected person inherits ... | [
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Is familial osteochondritis dissecans 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, an affected person has one parent with the condition. | [
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Is otopalatodigital syndrome type 2 inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... | [
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What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ? | TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of cells, where it attaches (binds) to another protein called tumor necrosis factor (TNF). This binding sends signals that ca... | [
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What are the symptoms of Amyotonia congenita ? | What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. 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) Abetalipoproteinemia ? | Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood... | [
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How many people are affected by persistent Mllerian duct syndrome ? | Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown. | [
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What is (are) ADNP syndrome ? | ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, ... | [
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What causes Greig cephalopolysyndactyly syndrome ? | What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting... | [
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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. | [
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Is Coats disease inherited ? | How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats dis... | [
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What is (are) Congenital deafness with vitiligo and achalasia ? | Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be... | [
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What is (are) Respiratory Failure ? | Respiratory (RES-pih-rah-tor-e) failure is a condition in which not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well.
Respiratory failure also can occur if your lungs can't properly remove carbon dioxide (a waste... | [
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Is focal dermal hypoplasia inherited ? | Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder... | [
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What are the treatments for Syringomyelia ? | Surgery is usually recommended for individuals with syringomyelia, with the type of surgery and its location dependent on the type of syrinx. In persons with syringomyelia that is associated with the Chiara I malformation, a procedure that removes skulll bone and expands the space around the malformation usually preven... | [
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What are the symptoms of Chapare Hemorrhagic Fever (CHHF) ? | The symptoms of CHHF, as reported in the only described patient, resemble those of other South American hemorrhagic fevers, such as Argentine HF or Bolivian HF. The incubation period is unknown, but for Argentine hemorrhagic fever (AHF) is 6 to 16 days.
The CHHF clinical course included:
- fever
- h... | [
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What is the outlook for Glossopharyngeal Neuralgia ? | Some individuals recover from an initial attack and never have another. Others will experience clusters of attacks followed by periods of short or long remission. Individuals may lose weight if they fear that chewing, drinking, or eating will cause an attack. | [
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