question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
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What are the symptoms of Familial hemiplegic migraine type 3 ? | What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. 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 are the genetic changes related to Holt-Oram syndrome ? | Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septati... | [
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What is (are) Silver syndrome ? | Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and c... | [
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What causes Cryptogenic organizing pneumonia ? | What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the ... | [
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What are the treatments for Parkes Weber syndrome ? | These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | [
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How many people are affected by prostate cancer ? | About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. While most men who are diagnosed with prostate cancer do not die from... | [
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How many people are affected by hereditary neuropathy with liability to pressure palsies ? | Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals. | [
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What are the symptoms of Hermansky-Pudlak syndrome ? | What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak 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 M... | [
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What are the symptoms of Cone-rod dystrophy 2 ? | What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | [
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What are the treatments for Klumpke paralysis ? | How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. Most infants recover from neuro... | [
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Who is at risk for Heart Failure? ? | About 5.7 million people in the United States have heart failure. The number of people who have this condition is growing.
Heart failure is more common in:
People who are age 65 or older. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led... | [
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How many people are affected by multiple lentigines syndrome ? | Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide. | [
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Is Lujan syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | [
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How many people are affected by alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a... | [
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What is (are) Notalgia paresthetica ? | Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness... | [
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What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ? | What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser type. If the information is available, the table below includes how often the symptom is seen in people wi... | [
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What is (are) Motor Neuron Diseases ? | The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain ste... | [
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What are the treatments for D-bifunctional protein deficiency ? | These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health... | [
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What are the treatments for Cystic Fibrosis ? | Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:
Preventing and controlling lung infections
Loosening and removing thick, sticky mucus from the lungs
Preventing or treating blockages in the ... | [
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What to do for Zollinger-Ellison Syndrome ? | - Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. - Experts do not know the exact cause of Zollinger-Ellison syndrome. - About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (ME... | [
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What is (are) Ataxia Telangiectasia ? | Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" ... | [
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How many people are affected by DOORS syndrome ? | DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately 50 affected individuals have been described in the medical literature. | [
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What is (are) Cyclic Vomiting Syndrome ? | Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. The episodes can last from a few hours to several days. Episodes can be so severe that a ... | [
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What are the genetic changes related to Mabry syndrome ? | Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer su... | [
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What are the genetic changes related to 21-hydroxylase deficiency ? | Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. Cortisol has numerous functions, such as maintaining ... | [
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What are the treatments for Immune Thrombocytopenia ? | Treatment for immune thrombocytopenia (ITP) is based on how much and how often you're bleeding and your platelet count.
Adults who have mild ITP may not need any treatment, other than watching their symptoms and platelet counts. Adults who have ITP with very low platelet counts or bleeding problems oft... | [
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What are the symptoms of Cerulean cataract ? | What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. 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 are the treatments for hereditary cerebral amyloid angiopathy ? | These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cereb... | [
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Is Dextrocardia with situs inversus inherited ? | Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal... | [
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What are the treatments for Parkes Weber syndrome ? | How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surg... | [
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What are the genetic changes related to renal tubular dysgenesis ? | Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth. The renin-angiotensin system consists of severa... | [
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What are the symptoms of Urachal cyst ? | What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria | [
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What are the symptoms of Hypophosphatemic rickets ? | What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowi... | [
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What is the outlook for Endometrial Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). - How the canc... | [
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What causes Cerebellar degeneration ? | What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebell... | [
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What is (are) Aberrant subclavian artery ? | Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childre... | [
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What are the treatments for Hearing Loss ? | Assistive Listening Devices Assistive listening devices devices can help you hear in certain listening environments. These can include telephone and cell phone amplifying devices, smart phone or tablet "apps," and closed circuit systems (induction coil loops) in places of worship, theaters, and auditoriums. TV listeni... | [
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What is the outlook for Leigh's Disease ? | The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age... | [
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Who is at risk for Parasites - Loiasis? ? | Loa loa parasites are found in West and Central Africa. Ten countries have areas where there are high rates of infection (i.e., where more than 40% of the people who live in that area report that they have had eye worm in the past). An estimated 14.4 million people live in these areas of high rates of infection. Anothe... | [
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What is (are) Malaria ? | Malaria is a serious disease caused by a parasite. You get it when an infected mosquito bites you. Malaria is a major cause of death worldwide, but it is almost wiped out in the United States. The disease is mostly a problem in developing countries with warm climates. If you travel to these countries, you are at risk. ... | [
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What is (are) Prostate Cancer ? | Sometimes, cancer cells break away from the malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer, not ... | [
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How many people are affected by oral-facial-digital syndrome ? | Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families. | [
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What is (are) Y chromosome infertility ? | Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or th... | [
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What are the treatments for biotinidase deficiency ? | These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about ... | [
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What is (are) Heart Failure ? | Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of t... | [
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What causes Mondini dysplasia ? | What causes Mondini dysplasia? The underlying cause of Mondini dysplasia (MD) in most individuals appears to remain unclear. Some have suggested that retinoids (vitamin A) or other factors a fetus may be exposed to early in pregnancy have contributed to some cases of isolated MD (occurring with no other abnormalities).... | [
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What is (are) Emphysema ? | Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. The most common cause is cigarette smoking. If you ... | [
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Do you have information about Nutrition for Seniors | Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might ... | [
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How many people are affected by Christianson syndrome ? | Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world. | [
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How many people are affected by Swyer syndrome ? | Swyer syndrome occurs in approximately 1 in 80,000 people. | [
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What are the symptoms of Crome syndrome ? | What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome 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 l... | [
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What is (are) Balance Problems ? | There are many types of balance disorders. Three of the most common are BPPV (benign paroxysmal positional vertigo), labyrinthitis, and Menieres disease. BPPV (benign paroxysmal positional vertigo) is one of the most common balance disorders among older adults. With BPPV, you experience a brief, intense feeling of vert... | [
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How many people are affected by nonsyndromic hearing loss ? | Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience ... | [
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What is (are) Brown-Sequard syndrome ? | Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trau... | [
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What is (are) Appendicitis ? | The appendix is a small, tube-like organ attached to the first part of the large intestine. It is located in the lower right part of the abdomen. It has no known function. A blockage inside of the appendix causes appendicitis. The blockage leads to increased pressure, problems with blood flow, and inflammation. If the ... | [
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What is (are) Chromosome 8q24.3 deletion syndrome ? | Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalitie... | [
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What is the outlook for Atrial Fibrillation and Stroke ? | AF, which affects as many as 2.2 million Americans, increases an individuals risk of stroke by 4 to 6 times on average. The risk increases with age. In people over 80 years old, AF is the direct cause of 1 in 4 strokes. Treating individuals with warfarin or new blood thinners reduces the rate of stroke for those who ha... | [
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How to diagnose What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? | Finding the cause of bladder pain may require several tests.
While tests may aid your doctor in making a diagnosis of IC/PBS, a careful review of your symptoms and a physical exam in the office are generally the most important parts of the evaluation. | [
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What is the outlook for Childhood Craniopharyngioma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. - The child's age. - Side e... | [
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What is (are) Rickets ? | Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she - Has dark skin ... | [
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How to prevent Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? | Researchers do not know how to prevent microscopic colitis. However, researchers do believe that people who follow the recommendations of their health care provider may be able to prevent relapses of microscopic colitis. | [
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What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ? | What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis syndrome. If the information is available, the table below includes how often the symptom is seen in p... | [
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What are the symptoms of Diabetic Kidney Disease ? | People with diabetic kidney disease do not have symptoms in the early stages. As kidney disease progresses, a person can develop edema, or swelling. Edema happens when the kidneys cannot get rid of the extra fluid and salt in the body. Edema can occur in the legs, feet, or ankles and less often in the hands or face. On... | [
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What are the symptoms of Arthrogryposis like disorder ? | What are the signs and symptoms of Arthrogryposis like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. 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 to do for Gastritis ? | Researchers have not found that eating, diet, and nutrition play a major role in causing or preventing gastritis. | [
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What causes Anencephaly ? | What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing a... | [
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What are the treatments for Fragile X syndrome ? | How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational interv... | [
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What are the treatments for achromatopsia ? | These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | [
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What are the genetic changes related to pyruvate dehydrogenase deficiency ? | The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate... | [
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Is Orofaciodigital syndrome 2 inherited ? | How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition. | [
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What is (are) Subcortical band heterotopia ? | Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that ... | [
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What are the symptoms of Ascher Syndrome ? | What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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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Is spinocerebellar ataxia type 3 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. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG t... | [
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What are the genetic changes related to geleophysic dysplasia ? | Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that... | [
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What is (are) Williams syndrome ? | Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with William... | [
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What are the treatments for Porencephaly ? | Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain. | [
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What causes Von Hippel-Lindau disease ? | What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, ... | [
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What are the treatments for Parasites - Trichinellosis (also known as Trichinosis) ? | Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results.
M... | [
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What are the treatments for tibial muscular dystrophy ? | These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... | [
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what research (or clinical trials) is being done for Childhood Acute Lymphoblastic Leukemia ? | 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. Chimeric antigen receptor (C... | [
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What causes Congenital diaphragmatic hernia ? | What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their di... | [
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How to prevent Age-related Macular Degeneration ? | There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. If early stage AMD progress... | [
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What is (are) recombinant 8 syndrome ? | Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hy... | [
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What is (are) Epilepsy ? | Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy h... | [
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What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer in... | [
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What is (are) common variable immune deficiency ? | Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people ... | [
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Do you have information about Hispanic American Health | Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Hispanic Americans. | [
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What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ? | These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency - MedlinePlus Encyclopedia: Immunodefi... | [
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What are the treatments for familial dilated cardiomyopathy ? | These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Review: LMNA-Related Dilated Cardiomyopathy - MedlinePlus Encyclope... | [
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Is Weyers acrofacial dysostosis inherited ? | Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition. | [
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What is (are) Gardner-Diamond syndrome ? | Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises t... | [
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What are the symptoms of Pili torti developmental delay neurological abnormalities ? | What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is s... | [
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Is Loeys-Dietz syndrome inherited ? | Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their ... | [
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What is (are) Chest Injuries and Disorders ? | The chest is the part of the body between your neck and your abdomen. It includes the ribs and breastbone. Inside your chest are several organs, including the heart, lungs, and esophagus. The pleura, a large thin sheet of tissue, lines the inside of the chest cavity. Chest injuries and disorders include - Hear... | [
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what research (or clinical trials) is being done for Infantile Spasms ? | The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will b... | [
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What is (are) Childhood Interstitial Lung Disease ? | Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath.
These diseases also harm the lungs ... | [
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What to do for Amyloidosis and Kidney Disease ? | - Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. - Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys. - The most common sign of primary amyloidosis of the kidneys is nephrotic syndrome. - The signs of ne... | [
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What is (are) Tabes Dorsalis ? | Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis ... | [
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What is (are) lung cancer ? | Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, breathing problems, trouble swallowing or speaking, blood in ... | [
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What are the treatments for Dry Eye ? | Self Care - Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. - Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with ch... | [
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