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What are the treatments for tuberous sclerosis complex ? | These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous Sclerosis Alliance: TSC Clinics These resources from MedlinePl... | [
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What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ? | What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | [
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What is (are) Hepatocellular carcinoma, childhood ? | Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of fac... | [
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What is (are) Tick Bites ? | If you spend time outdoors or have pets that go outdoors, you need to beware of ticks. Ticks are small bloodsucking parasites. Many species transmit diseases to animals and people. Some of the diseases you can get from a tick bite are Lyme disease, ehrlichiosis, Rocky Mountain spotted fever and tularemia. Some tick... | [
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What are the symptoms of Ewing sarcoma ? | What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. 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 loo... | [
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How many people are affected by gyrate atrophy of the choroid and retina ? | More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland. | [
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Do you have information about Minerals | Summary : Minerals are important for your body to stay healthy. Your body uses minerals for many different jobs, including building bones, making hormones and regulating your heartbeat. There are two kinds of minerals: macrominerals and trace minerals. Macrominerals are minerals your body needs in larger amounts. T... | [
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What are the symptoms of Pulmonary venous return anomaly ? | What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. 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 is (are) Ainhum ? | Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition ... | [
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What is (are) Friedreich's Ataxia ? | Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific sympt... | [
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What are the genetic changes related to Asperger syndrome ? | While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. It appears likely that a combination of genetic v... | [
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How many people are affected by congenital plasminogen deficiency ? | The prevalence of congenital plasminogen deficiency has been estimated at 1.6 per one million people. This condition is believed to be underdiagnosed, because growths in one area are often not recognized as being a feature of a disorder that affects many body systems. Mild cases likely never come to medical attention. | [
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What is (are) mycosis fungoides ? | Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involve... | [
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What is (are) Osteogenesis imperfecta type VI ? | Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6... | [
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What are the treatments for spina bifida ? | These resources address the diagnosis or management of spina bifida: - Benioff Children's Hospital, University of California, San Francisco: Treatment of Spina Bifida - Centers for Disease Control and Prevention: Living with Spina Bifida - GeneFacts: Spina Bifida: Diagnosis - GeneFacts: Spina Bifida: Management - ... | [
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How many people are affected by Floating-Harbor syndrome ? | Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature. | [
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What are the symptoms of Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ? | Dermatitis herpetiformis is characterized by small, clustered papules and vesicles that erupt symmetrically on the elbows, knees, buttocks, back, or scalp. The face and groin can also be involved. A burning sensation may precede lesion formation. Lesions are usually scratched off by the time a patient comes in for a ph... | [
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What are the treatments for Wilson disease ? | How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is no... | [
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What are the symptoms of SLC4A1-associated distal renal tubular acidosis ? | What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. If the information is available, the table below includes how often the symptom is seen in people with t... | [
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How to diagnose Florid cemento-osseous dysplasia ? | How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, ... | [
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What are the treatments for Manitoba oculotrichoanal syndrome ? | These resources address the diagnosis or management of Manitoba oculotrichoanal syndrome: - Gene Review: Gene Review: Manitoba Oculotrichoanal Syndrome - Genetic Testing Registry: Marles Greenberg Persaud syndrome - MedlinePlus Encyclopedia: Omphalocele Repair These resources from MedlinePlus offer information abo... | [
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What are the genetic changes related to von Hippel-Lindau syndrome ? | Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. A... | [
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What are the symptoms of Congenital alopecia X-linked ? | What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia 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 Medline... | [
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What is (are) intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the live... | [
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What is (are) Prevent diabetes problems: Keep your nervous system healthy ? | Your nervous system carries signals between your brain and other parts of your body through your spinal cord. Nerves are bundles of special tissues that transmit these signals.
The signals share information between your brain and body about how things feel. The signals also send information between you... | [
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What is (are) Moyamoya disease ? | Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affe... | [
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What causes Primary Familial Brain Calcification ? | What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found. | [
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What are the treatments for glutathione synthetase deficiency ? | These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione synthetase deficiency These resources from MedlinePlus offer ... | [
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What are the symptoms of Summitt syndrome ? | What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt 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 ... | [
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Is ring chromosome 14 syndrome inherited ? | Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. ... | [
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What to do for Medullary Sponge Kidney ? | - Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. - Complica... | [
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What are the symptoms of Mandibulofacial dysostosis with microcephaly ? | What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as t... | [
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What to do for Primary Biliary Cirrhosis ? | A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause
- people to eat less because of symptoms such a... | [
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What to do for Diabetes, Heart Disease, and Stroke ? | - If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed... | [
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What are the symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | What are the signs and symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis. If the information is available, the table below includes how of... | [
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How many people are affected by pilomatricoma ? | Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors. | [
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Is acromicric dysplasia inherited ? | Acromicric dysplasia is an autosomal dominant condition, 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 gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutati... | [
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What is (are) Spastic paraplegia 11 ? | Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnorm... | [
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What are the symptoms of Isolated anterior cervical hypertrichosis ? | What are the signs and symptoms of Isolated anterior cervical hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated anterior cervical hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | [
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What are the genetic changes related to early-onset primary dystonia ? | A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It a... | [
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How many people are affected by aminoacylase 1 deficiency ? | The prevalence of aminoacylase 1 deficiency is unknown. | [
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What are the treatments for Bardet-Biedl syndrome ? | These resources address the diagnosis or management of Bardet-Biedl syndrome: - Gene Review: Gene Review: Bardet-Biedl Syndrome - Genetic Testing Registry: Bardet-Biedl syndrome - MedlinePlus Encyclopedia: Obesity - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the... | [
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What are the treatments for Parry-Romberg ? | There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial ... | [
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What is (are) Diabetes, Heart Disease, and Stroke ? | If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your cha... | [
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What are the genetic changes related to cystic fibrosis ? | Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; fo... | [
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What are the symptoms of Sickle Cell Disease ? | Early Signs and Symptoms
If a person has sickle cell disease (SCD), it is present at birth. But most infants do not have any problems from the disease until they are about 5 or 6 months of age. Every state in the United States, the District of Columbia, and the U.S. territories requires that all newbor... | [
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What are the treatments for warfarin resistance ? | These resources address the diagnosis or management of warfarin resistance: - American Society of Hematology: Antithrombotic Therapy - MedlinePlus Drugs & Supplements: Warfarin - PharmGKB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost... | [
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What are the genetic changes related to Crohn disease ? | Crohn disease is related to chromosomes 5 and 10. Variations of the ATG16L1, IRGM, and NOD2 genes increase the risk of developing Crohn disease. The IL23R gene is associated with Crohn disease. A variety of genetic and environmental factors likely play a role in causing Crohn disease. Although researchers are studyi... | [
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What are the symptoms of Potassium aggravated myotonia ? | What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | [
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How to diagnose Schnitzler syndrome ? | How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other con... | [
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What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ? | Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes cer... | [
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How many people are affected by primary macronodular adrenal hyperplasia ? | PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing ... | [
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What are the symptoms of Hemangiopericytoma ? | What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. 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 Diction... | [
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What causes Silicosis ? | What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe. | [
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Is Alzheimer disease inherited ? | The early-onset form of Alzheimer disease 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 inherits the altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disea... | [
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What are the symptoms of Celiac Disease ? | A person may experience digestive signs and symptoms, or symptoms in other parts of the body. Digestive signs and symptoms are more common in children and can include
- abdominal bloating - chronic diarrhea - constipation - gas - pale, foul-smelling, or fatty stool - stomach pain - nausea - vomi... | [
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What is (are) Muscular dystrophy ? | Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the ... | [
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How many people are affected by Cohen syndrome ? | The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed. | [
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What are the symptoms of Mucopolysaccharidosis type IIID ? | What are the signs and symptoms of Mucopolysaccharidosis type IIID? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIID. 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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Do you have information about Liver Transplantation | Summary : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a... | [
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What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ? | What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X deficiency. If the information is available, the table below includes how often the symptom is see... | [
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What are the stages of Endometrial Cancer ? | Key Points
- After endometrial cancer has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The... | [
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What is (are) Kidney Disease ? | When you visit your doctor, here are questions to ask about your kidneys. - What is my GFR? - What is my urine albumin result? - What is my blood pressure? - What is my blood glucose (for people with diabetes)? What is my GFR? What is my urine albumin result? What is my blood pressure? What is my blood glucose (f... | [
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What are the symptoms of Syndactyly type 9 ? | What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. 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 to do for Nutrition for Advanced Chronic Kidney Disease in Adults ? | - A person may prevent or delay some health problems from chronic kidney disease (CKD) by eating the right foods and avoiding foods high in sodium, potassium, and phosphorus. - The kidneys remove wastes and extra water from the blood and make urine. - Medical nutrition therapy (MNT) is the use of counseling by a regi... | [
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Is juvenile Batten disease 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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How many people are affected by TK2-related mitochondrial DNA depletion syndrome, myopathic form ? | The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described. | [
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What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ? | What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. If the information is available, the table below includes how often the symptom is s... | [
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Who is at risk for What I need to know about Diverticular Disease? ? | Many people get diverticular disease. Starting at age 40, the chance of getting it increases about every 10 years. About half of people between the ages of 60 and 80 have diverticular disease. Almost everyone over 80 has it. | [
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What is (are) mucopolysaccharidosis type VI ? | Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. People ... | [
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What are the symptoms of Episodic ataxia with nystagmus ? | What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | [
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What is (are) Ocular cicatricial pemphigoid ? | Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drain... | [
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What is (are) myotonic dystrophy ? | Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myoton... | [
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What is (are) Stroke ? | The most commonly used imaging procedure is the computed tomography or CT scan, also known as a CAT scan. A CT scan is comprised of a series of cross-sectional images of the head and brain. Because it is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrha... | [
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What is (are) Paraneoplastic Syndromes ? | Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a "neoplasm." Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous... | [
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What are the symptoms of Oculocutaneous albinism type 3 ? | What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | [
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What causes Chronic Fatigue Syndrome (CFS) ? | Despite a vigorous search, scientists have not yet identified what causes CFS. While a single cause for CFS may yet be identified, another possibility is that CFS has multiple causes. Conditions that have been studied to determine if they cause or trigger the development of CFS include infections, immune disorders, str... | [
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What is (are) African iron overload ? | African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intest... | [
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What are the treatments for Pyridoxine-dependent epilepsy ? | How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). ... | [
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Is paroxysmal extreme pain disorder 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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What is (are) Acne ? | Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. No one knows exactly what cause... | [
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What is (are) GM2-gangliosidosis, AB variant ? | GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows an... | [
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what research (or clinical trials) is being done for Kaposi Sarcoma ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targete... | [
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What are the complications of Polycystic Kidney Disease ? | Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems.
Children... | [
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What is (are) Giant Cell Arteritis ? | Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both are more common in women than in men. They almost ... | [
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How to diagnose Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? | Tests that examine the brain and spinal cord are used to detect (find) CNS atypical teratoid/rhabdoid tumor. 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 lumps or anything el... | [
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What to do for What I need to know about Gestational Diabetes ? | - Gestational diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. - Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your s... | [
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What are the symptoms of Bietti crystalline corneoretinal dystrophy ? | What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condit... | [
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What to do for What I need to know about Physical Activity and Diabetes ? | - Starting a physical activity program can help you lose weight or keep a healthy weight and keep your blood glucose levels on target. - Always talk with your health care team before you start a new physical activity program. - Ask your health care team if you need to change the amount of medicine you take or the foo... | [
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What is (are) achromatopsia ? | Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination. Achromatopsia also i... | [
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What is (are) Parkes Weber syndrome ? | Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arterio... | [
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Is Jervell and Lange-Nielsen syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have sign... | [
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What causes Disseminated Intravascular Coagulation ? | Some diseases and conditions can disrupt the body's normal blood clotting process and lead to disseminated intravascular coagulation (DIC). These diseases and conditions include:
Sepsis (an infection in the bloodstream)
Surgery and trauma
Cancer
Seriou... | [
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How to diagnose Diagnosis of Diabetes and Prediabetes ? | Health care providers test for gestational diabetes using the OGTT. Women may be tested during their first visit to the health care provider after becoming pregnant or between 24 to 28 weeks of pregnancy depending on their risk factors and symptoms. Women found to have diabetes at the first visit to the health care pro... | [
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What is (are) Knee Replacement ? | You can learn more about knee replacement from the following resources. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse National Institutes of Health 1 AMS Circle Bethesda, MD 20892-3675 Phone: 301-495-4484 Toll Free: 877-22-NIAMS (226-4267) TTY: 301-565-2... | [
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What are the symptoms of Ichthyosis prematurity syndrome ? | What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity 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 M... | [
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Who is at risk for Heart Attack? ? | Certain risk factors make it more likely that you'll develop coronary heart disease (CHD) and have a heart attack. You can control many of these risk factors.
Risk Factors You Can Control
The major risk factors for a heart attack that you can control include:
Smoking
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What are the treatments for age-related macular degeneration ? | These resources address the diagnosis or management of age-related macular degeneration: - BrightFocus Foundation: Macular Degeneration Treatment - Genetic Testing Registry: Age-related macular degeneration - Genetic Testing Registry: Age-related macular degeneration 1 - Genetic Testing Registry: Age-related macula... | [
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What is (are) Canker Sores ? | Canker sores are small, round sores in your mouth. They can be on the inside of your cheek, under your tongue, or in the back of your throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. Canker sores aren't contagi... | [
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What are the symptoms of Muscular dystrophy, congenital, merosin-positive ? | What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with... | [
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