question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
|---|---|---|---|---|
What is (are) Skin Cancer ? | Key Points
- Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are several types of skin cancer. - Skin cancer is the most common cancer in the United States.
Skin cancer is a disease in whi... | [
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What are the symptoms of Congenital ectodermal dysplasia with hearing loss ? | What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. If the information is available, the table below includes how often the symptom is seen in people wi... | [
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What is the outlook for Chiari Malformation ? | Many people with Type I CM are asymptomatic and do not know they have the condition. Many individuals with the more severe types of CM and have surgery see a reduction in their symptoms and/or prolonged periods of relative stability, although paralysis is generally permanent. | [
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Who is at risk for Endometrial Cancer? ? | Health history and certain medicines can affect the risk of developing endometrial cancer. Anything that increases your chance 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 doesnt mean that you will not get cancer. People who think the... | [
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Is ocular albinism inherited ? | Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause t... | [
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What are the symptoms of Aplasia cutis congenita intestinal lymphangiectasia ? | What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in peopl... | [
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What are the treatments for MYH9-related disorder ? | These resources address the diagnosis or management of MYH9-related disorder: - Gene Review: Gene Review: MYH9-Related Disorders - Genetic Testing Registry: Epstein syndrome - Genetic Testing Registry: Fechtner syndrome - Genetic Testing Registry: Macrothrombocytopenia and progressive sensorineural deafness - Gene... | [
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What causes Craniometaphyseal dysplasia, autosomal dominant ? | What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate b... | [
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What are the treatments for DICER1 syndrome ? | These resources address the diagnosis or management of DICER1 syndrome: - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment - Gene Review: Gene Review: DICER1-Related Disorders - Genetic Testing Registry: Pleuropulmonary blastoma These resources from MedlinePl... | [
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What are the treatments for Glycogen storage disease type 4 ? | How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size,... | [
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What are the symptoms of Scalp defects postaxial polydactyly ? | What are the signs and symptoms of Scalp defects postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp defects postaxial polydactyly. 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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Is celiac disease inherited ? | Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown. | [
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What are the symptoms of Mucolipidosis III alpha/beta ? | What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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What are the genetic changes related to narcolepsy ? | Narcolepsy probably results from a combination of genetic and environmental factors, some of which have been identified, but many of which remain unknown. In most cases of narcolepsy with cataplexy, and in some cases without cataplexy, sleep abnormalities result from a loss of particular brain cells (neurons) in a par... | [
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How many people are affected by Birt-Hogg-Dub syndrome ? | Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families. | [
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What are the complications of Perineal Injury in Males ? | Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as
- bladder control problems - sexual problems
Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the ... | [
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What are the treatments for Osteoarthritis ? | Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. If acetaminophen does not ... | [
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Is juvenile myoclonic epilepsy inherited ? | The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The inheritance pattern of juven... | [
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What is (are) Gout ? | Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. Normally... | [
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What are the genetic changes related to multiple pterygium syndrome ? | Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is fo... | [
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What is (are) Duane syndrome type 2 ? | Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is ... | [
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What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ? | What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies syndrome. If the information is available, the table below includes how often the symptom is seen in people with... | [
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Is autosomal recessive spastic ataxia of Charlevoix-Saguenay 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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Is ataxia with vitamin E deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the treatments for Brachial Plexus Injuries ? | Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery. | [
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What is (are) Choking ? | Food or small objects can cause choking if they get caught in your throat and block your airway. This keeps oxygen from getting to your lungs and brain. If your brain goes without oxygen for more than four minutes, you could have brain damage or die. Young children are at an especially high risk of choking. They can... | [
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What are the symptoms of Mantle cell lymphoma ? | What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list ... | [
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What are the treatments for Pol III-related leukodystrophy ? | These resources address the diagnosis or management of Pol III-related leukodystrophy: - Eastman Dental Hospital: Hypodontia Clinic - Gene Review: Gene Review: Pol III-Related Leukodystrophies - Genetic Testing Registry: Pol III-related leukodystrophy - Johns Hopkins Medicine: Treating Ataxia - National Ataxia Fou... | [
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What is (are) Gastrointestinal Carcinoid Tumors ? | Key Points
- A gastrointestinal carcinoid tumor is cancer that forms in the lining of the gastrointestinal tract. - Health history can affect the risk of gastrointestinal carcinoid tumors. - Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages. - Carcino... | [
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What are the symptoms of Tetraploidy ? | What are the signs and symptoms of Tetraploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraploidy. 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 look up... | [
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Is Ehlers-Danlos syndrome, vascular type inherited ? | Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation ... | [
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What are the genetic changes related to Weill-Marchesani syndrome ? | Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mut... | [
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What are the symptoms of Limbic encephalitis ? | What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. A large variety of symptoms may be associated with limbic e... | [
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Is familial restrictive cardiomyopathy 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 are the treatments for hereditary sensory and autonomic neuropathy type II ? | These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIB These resou... | [
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What are the symptoms of Age-related Macular Degeneration ? | An early symptom of wet AMD is that straight lines appear wavy. If you notice this condition or other changes to your vision, contact your eye care professional at once. You need a comprehensive dilated eye exam. | [
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How to prevent Parasites - Loiasis ? | There are no programs to control or eliminate loiasis in affected areas. Your risk of infection may be less in areas where communities receive regular treatment for onchocerciasis or lymphatic filariasis.
There are no vaccines that protect you from loiasis. If you are going to be in an area with loiasis for a long... | [
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Do you have information about Mammography | Summary : A mammogram is an x-ray picture of the breast. It can be used to check for breast cancer in women who have no signs or symptoms of the disease. It can also be used if you have a lump or other sign of breast cancer. Screening mammography is the type of mammogram that checks you when you have no symptoms. It... | [
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How many people are affected by infantile systemic hyalinosis ? | The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 people with this disorder have been reported. | [
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What are the symptoms of Alzheimer's Disease ? | Alzheimer's disease varies from person to person so not everyone will have the same symptoms. Also, the disease progresses faster in some people than in others. In general, though, Alzheimers takes many years to develop and becomes increasingly severe over time. Memory Problems -- A Common Early Sign Memory problems ar... | [
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How to diagnose Parsonage Turner syndrome ? | How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause s... | [
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Is pulmonary alveolar microlithiasis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the symptoms of Crohn's Disease ? | The most common signs and symptoms of Crohn's disease are
- diarrhea - abdominal cramping and pain - weight loss
Other general signs and symptoms include
- feeling tired - nausea or loss of appetite - fever - anemiaa condition in which the body has fewer red blood... | [
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How many people are affected by alpha-mannosidosis ? | Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. | [
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What is (are) Beta ketothiolase deficiency ? | Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear be... | [
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What is (are) aromatase deficiency ? | Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or ... | [
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What is (are) Autosomal dominant partial epilepsy with auditory features ? | Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms ... | [
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What are the symptoms of Aromatase excess syndrome ? | What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess 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 Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ? | What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 2. If the information is available, the table below inc... | [
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What causes COPD ? | COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to... | [
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What are the symptoms of Pituitary hormone deficiency, combined 2 ? | What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | [
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Do you have information about Secondhand Smoke | Summary : Secondhand smoke is a mixture of the smoke that comes from the burning end of a cigarette, cigar, or pipe, and the smoke breathed out by the smoker. It contains more than 7,000 chemicals. Hundreds of those chemicals are toxic and about 70 can cause cancer. Health effects of secondhand smoke include -... | [
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What are the treatments for focal dermal hypoplasia ? | These resources address the diagnosis or management of focal dermal hypoplasia: - Gene Review: Gene Review: Focal Dermal Hypoplasia - Genetic Testing Registry: Focal dermal hypoplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer in... | [
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What are the symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly ? | What are the signs and symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal dysplasia maxillary hypoplasia brachydactyly. If the information is available, the table below includes how often the symptom is see... | [
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What are the symptoms of Charcot-Marie-Tooth disease type 2B ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. 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 symptoms of Urinary Tract Infections ? | Symptoms of a UTI in the bladder may include - cloudy, bloody, or foul-smelling urine - pain or burning during urination - strong and frequent need to urinate, even right after emptying the bladder - a mild fever below 101 degrees Fahrenheit in some people. cloudy, bloody, or foul-smelling urine pain or burning duri... | [
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What is (are) Learning Disorders ? | Learning disorders affect how a person understands, remembers and responds to new information. People with learning disorders may have problems - Listening or paying attention - Speaking - Reading or writing - Doing math Although learning disorders occur in very young children, they are usually not... | [
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What is the outlook for Dyslexia ? | For those with dyslexia, the prognosis is mixed. The disability affects such a wide range of people and produces such different symptoms and varying degrees of severity that predictions are hard to make. The prognosis is generally good, however, for individuals whose dyslexia is identified early, who have supportive fa... | [
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What are the genetic changes related to aceruloplasminemia ? | Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, ... | [
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What is (are) Traumatic Brain Injury ? | Traumatic brain injury (TBI), a form ofacquired brain injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue.Symptoms of a TBI can be mild, moderate, or severe, depending on the exten... | [
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What are the treatments for Meige disease ? | These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy... | [
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How many people are affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? | The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people. | [
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What are the genetic changes related to Romano-Ward syndrome ? | Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, i... | [
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Do you have information about Teen Development | Summary : As a teenager, you go through many physical, mental, emotional, and social changes. The biggest change is puberty, the process of becoming sexually mature. It usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. As your body changes, you may have questions about sexual health. Duri... | [
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What are the treatments for Horner syndrome ? | These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... | [
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Who is at risk for Metabolic Syndrome? ? | People at greatest risk for metabolic syndrome have these underlying causes:
Abdominal obesity (a large waistline)
An inactive lifestyle
Insulin resistance
Some people are at risk for metabolic syndrome because they take medicines that cause weight gai... | [
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What is (are) essential thrombocythemia ? | Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal bloo... | [
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What causes Dominant dystrophic epidermolysis bullosa ? | What causes dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as s... | [
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What is (are) Colorectal Cancer ? | Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel. | [
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How many people are affected by X-linked creatine deficiency ? | The prevalence of X-linked creatine deficiency is unknown. More than 150 affected individuals have been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability. | [
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How many people are affected by type 1 diabetes ? | Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in ... | [
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What are the treatments for Hyper-IgD syndrome ? | How might hyper IgD syndrome be treated? There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some succe... | [
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What is (are) Niemann-Pick disease ? | Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. In... | [
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What is (are) Primary Biliary Cirrhosis ? | Primary biliary cirrhosis is a chronic, or long lasting, disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear.
The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. When food enters the stomach after a me... | [
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How many people are affected by Graves disease ? | Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States. | [
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what research (or clinical trials) is being done for Postural Tachycardia Syndrome ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) conduct research related to POTS and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to p... | [
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How to diagnose Intestinal Pseudo-obstruction ? | To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care... | [
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Is Wolff-Parkinson-White syndrome inherited ? | Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition. These cases are described as sporadic and are not inherited. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typi... | [
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What are the symptoms of Congenital dyserythropoietic anemia type 2 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can ... | [
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What is (are) L-arginine:glycine amidinotransferase deficiency ? | L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic beh... | [
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What is (are) Apraxia ? | Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parie... | [
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What are the treatments for cri-du-chat syndrome ? | These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat Syndrome These resources from Medl... | [
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What is (are) X-linked lissencephaly with abnormal genitalia ? | X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. ... | [
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What is (are) Skin Pigmentation Disorders ? | Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Ot... | [
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What is (are) Multiple sclerosis ? | Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to... | [
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What is (are) Cytomegalovirus Infections ? | Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life. CMV is spread... | [
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What are the symptoms of Multicentric osteolysis nephropathy ? | What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What is (are) Parasites - Taeniasis ? | Taeniasis in humans is a parasitic infection caused by the tapeworm species Taenia saginata (beef tapeworm), Taenia solium (pork tapeworm), and Taenia asiatica (Asian tapeworm). Humans can become infected with these tapeworms by eating raw or undercooked beef (T. saginata) or pork (T. solium and T. asiatica). People wi... | [
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What are the symptoms of Eyebrows duplication of, with stretchable skin and syndactyly ? | What are the signs and symptoms of Eyebrows duplication of, with stretchable skin and syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Eyebrows duplication of, with stretchable skin and syndactyly. If the information is available, the table below includes how often the symp... | [
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What are the treatments for Extragonadal Germ Cell Tumors ? | Key Points
- There are different types of treatment for patients with extragonadal germ cell tumors. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - High-dose... | [
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What is (are) Landau-Kleffner syndrome ? | Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS... | [
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What are the treatments for Dumping Syndrome ? | Treatment for dumping syndrome includes changes in eating, diet, and nutrition; medication; and, in some cases, surgery. Many people with dumping syndrome have mild symptoms that improve over time with simple dietary changes. | [
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What is (are) propionic acidemia ? | Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in th... | [
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what research (or clinical trials) is being done for Polymyositis ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded resea... | [
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What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this co... | [
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What are the treatments for Epilepsy ? | Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. An individual with seizures, particularly tho... | [
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What are the symptoms of Glutamine deficiency, congenital ? | What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. 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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What are the symptoms of Homocarnosinosis ? | What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. 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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What is (are) Malaria ? | Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are ... | [
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What are the genetic changes related to mucopolysaccharidosis type IV ? | Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. When MPS IV is caused by mutations... | [
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