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information | What is (are) Primary Ciliary Dyskinesia ? | Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah).
Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughe... |
outlook | What is the outlook for Myopathy ? | The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal. |
information | Do you have information about End of Life Issues | Summary : Planning for the end of life can be difficult. But by deciding what end-of-life care best suits your needs when you are healthy, you can help those close to you make the right choices when the time comes. End-of-life planning usually includes making choices about the following: - The goals of care (f... |
research | what research (or clinical trials) is being done for Pancreatic Cancer ? | 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. Biologic therapy Biologi... |
symptoms | What are the symptoms of Hypochromic microcytic anemia with iron overload ? | What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with... |
treatment | What are the treatments for neurofibromatosis type 2 ? | These resources address the diagnosis or management of neurofibromatosis type 2: - Boston Children's Hospital - Gene Review: Gene Review: Neurofibromatosis 2 - Genetic Testing Registry: Neurofibromatosis, type 2 - MedlinePlus Encyclopedia: Acoustic Neuroma - MedlinePlus Encyclopedia: Neurofibromatosis 2 - Neurofi... |
symptoms | What are the symptoms of Disseminated peritoneal leiomyomatosis ? | What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding... |
inheritance | Is Platelet storage pool deficiency inherited ? | Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one c... |
inheritance | Is ankylosing spondylitis inherited ? | Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not me... |
treatment | What are the treatments for SYNGAP1-related intellectual disability ? | These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Mental retardation, autosomal dominant 5 ... |
outlook | What is the outlook for Arteriovenous Malformation ? | The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully ... |
inheritance | Is generalized arterial calcification of infancy 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. |
frequency | How many people are affected by juvenile idiopathic arthritis ? | The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic a... |
frequency | How many people are affected by chorea-acanthocytosis ? | It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis. |
symptoms | What are the symptoms of Cervical hypertrichosis peripheral neuropathy ? | What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this ... |
symptoms | What are the symptoms of Factor XIII deficiency ? | What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, ... |
considerations | What to do for Causes of Diabetes ? | - Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or i... |
frequency | How many people are affected by dyskeratosis congenita ? | The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people. |
symptoms | What are the symptoms of Neuropathy, distal hereditary motor, Jerash type ? | What are the signs and symptoms of Neuropathy, distal hereditary motor, Jerash type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, distal hereditary motor, Jerash type. If the information is available, the table below includes how often the symptom is seen in people with... |
causes | What causes Problems with Taste ? | The most common causes of taste disorders are medications, infections, head trauma, and dental problems. Most people who have a problem with taste are taking certain medications or they have had a head or neck injury. Gum disease, dry mouth, and dentures can contribute to taste problems, too. Other causes are radiation... |
genetic changes | What are the genetic changes related to MyD88 deficiency ? | MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiat... |
treatment | What are the treatments for limb-girdle muscular dystrophy ? | These resources address the diagnosis or management of limb-girdle muscular dystrophy: - Cleveland Clinic - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview - Genetic Testing Registry: Limb-girdle muscular dystrophy - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A - Genetic Test... |
information | What is (are) Schwartz Jampel syndrome type 1 ? | Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 ... |
treatment | What are the treatments for isodicentric chromosome 15 syndrome ? | These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... |
genetic changes | What are the genetic changes related to Char syndrome ? | Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes th... |
inheritance | Is carbamoyl phosphate synthetase I 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. |
information | What is (are) Glomerular Diseases ? | The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid.
Blood enters the kidneys through arteries that branch ins... |
information | What is (are) Papillary renal cell carcinoma ? | Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projecti... |
symptoms | What are the symptoms of X-linked adrenal hypoplasia congenita ? | What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically b... |
information | What is (are) Exogenous ochronosis ? | Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. The discoloration may... |
frequency | How many people are affected by nonbullous congenital ichthyosiform erythroderma ? | NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected. |
frequency | How many people are affected by Carney complex ? | Carney complex is a rare disorder; fewer than 750 affected individuals have been identified. |
causes | What causes Isovaleric acidemia ? | What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a ... |
causes | What causes Viral Hepatitis: A through E and Beyond ? | Some cases of viral hepatitis cannot be attributed to the hepatitis A, B, C, D, or E viruses, or even the less common viruses that can infect the liver, such as cytomegalovirus, Epstein-Barr virus, herpesvirus, parvovirus, and adenovirus. These cases are called non-AE hepatitis. Scientists continue to study the causes ... |
causes | What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely. |
treatment | What are the treatments for Developmental Dyspraxia ? | Treatment is symptomatic and supportive and may include occupational and speech therapy, and "cueing" or other forms of communication such as using pictures and hand gestures. Many children with the disorder require special education. |
symptoms | What are the symptoms of Congenital pulmonary lymphangiectasia ? | What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
information | What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ? | Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may... |
treatment | What are the treatments for Behcet's Disease ? | Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered. |
information | What is (are) Central serous chorioretinopathy ? | Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Sign... |
causes | What causes Glucose transporter type 1 deficiency syndrome ? | What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. The protein is partic... |
information | What is (are) aromatase excess syndrome ? | Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop g... |
symptoms | What are the symptoms of Your Guide to Diabetes: Type 1 and Type 2 ? | The signs and symptoms of diabetes are
- being very thirsty - urinating often - feeling very hungry - feeling very tired - losing weight without trying - sores that heal slowly - dry, itchy skin - feelings of pins and needles in your feet - losing feeling in your feet - blurry eyesight
... |
information | What is (are) Psoriasis ? | Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthr... |
treatment | What are the treatments for Beckwith-Wiedemann syndrome ? | These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Macroglossia - MedlinePlus Encyclop... |
symptoms | What are the symptoms of Isovaleric acidemia ? | What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of ... |
inheritance | Is amyotrophic lateral sclerosis inherited ? | About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means... |
causes | What causes Von Willebrand Disease ? | Von Willebrand disease (VWD) is almost always inherited. "Inherited" means that the disorder is passed from parents to children though genes.
You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the... |
frequency | How many people are affected by boomerang dysplasia ? | Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified. |
frequency | How many people are affected by geleophysic dysplasia ? | Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported. |
frequency | How many people are affected by autosomal recessive congenital methemoglobinemia ? | The incidence of autosomal recessive congenital methemoglobinemia is unknown. |
information | What is (are) Endometriosis ? | Endometriosis is a problem affecting a woman's uterus - the place where a baby grows when she's pregnant. Endometriosis is when the kind of tissue that normally lines the uterus grows somewhere else. It can grow on the ovaries, behind the uterus or on the bowels or bladder. Rarely, it grows in other parts of the body. ... |
information | What is (are) Guillain-Barr Syndrome ? | Guillain-Barr syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. The... |
genetic changes | What are the genetic changes related to infantile systemic hyalinosis ? | Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basemen... |
susceptibility | Who is at risk for Anemia? ? | Anemia is a common condition. It occurs in all age, racial, and ethnic groups. Both men and women can have anemia. However, women of childbearing age are at higher risk for the condition because of blood loss from menstruation.
Anemia can develop during pregnancy due to low levels of iron and folic aci... |
treatment | What are the treatments for glycogen storage disease type V ? | These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome These resources from MedlinePlus offer information about the ... |
treatment | What are the treatments for Spinal Cord Infarction ? | Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence. |
information | What is (are) Thyroglossal tract cyst ? | A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development. |
inheritance | Is Senior-Lken syndrome 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. |
information | What is (are) Diabetes ? | Too Much Glucose in the Blood Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also mad... |
inheritance | Is PDGFRA-associated chronic eosinophilic leukemia inherited ? | PDGFRA-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Mutations that lead to a PDGFRA fusion gene and PDGFRA point mutations are somatic mutations, which means they occur during a person's lifetime and are found only in certain cells. S... |
treatment | What are the treatments for Hypothalamic dysfunction ? | How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with ... |
complications | What are the complications of Medullary Sponge Kidney ? | Complications of medullary sponge kidney include
- hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs)
Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure. |
information | What is (are) epidermolytic hyperkeratosis ? | Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or th... |
genetic changes | What are the genetic changes related to proopiomelanocortin deficiency ? | POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cort... |
symptoms | What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ? | What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with t... |
information | What is (are) Wilson Disease ? | Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristi... |
exams and tests | How to diagnose Parasites - Fascioliasis (Fasciola Infection) ? | The standard way to be sure a person is infected with Fasciola is by seeing the parasite. This is usually done by finding Fasciola eggs in stool (fecal) specimens examined under a microscope. More than one specimen may need to be examined to find the parasite. Sometimes eggs are found by examining duodenal contents or ... |
treatment | What are the treatments for Allan-Herndon-Dudley syndrome ? | These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedi... |
information | What is (are) Kuru ? | Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased fam... |
symptoms | What are the symptoms of Cerebellar hypoplasia tapetoretinal degeneration ? | What are the signs and symptoms of Cerebellar hypoplasia tapetoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar hypoplasia tapetoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with... |
information | Do you have information about Toddler Development | Summary : Mastering new skills such as how to walk, talk, and use the potty are developmental milestones. It is exciting to watch your toddler learn new skills. The normal development of children aged 1-3 can be broken down into the following areas: - Gross motor - walking, running, climbing - Fine motor - fee... |
information | What is (are) Hypoplastic left heart syndrome ? | Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough... |
exams and tests | How to diagnose Severe combined immunodeficiency ? | How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibi... |
frequency | How many people are affected by Li-Fraumeni syndrome ? | The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder. |
treatment | What are the treatments for Ellis-van Creveld syndrome ? | These resources address the diagnosis or management of Ellis-van Creveld syndrome: - Genetic Testing Registry: Chondroectodermal dysplasia - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome - MedlinePlus Encyclopedia: Polydactyly These resources from Medlin... |
treatment | What are the treatments for Li-Fraumeni syndrome ? | These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - ... |
genetic changes | What are the genetic changes related to X-linked adrenoleukodystrophy ? | Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that ... |
frequency | How many people are affected by primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year. |
genetic changes | What are the genetic changes related to hereditary hypophosphatemic rickets ? | Hereditary hypophosphatemic rickets can result from mutations in several genes. Mutations in the PHEX gene, which are responsible for X-linked hypophosphatemic rickets, occur most frequently. Mutations in other genes cause the less common forms of the condition. Hereditary hypophosphatemic rickets is characterized by ... |
information | What is (are) nonsyndromic hearing loss ? | Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the con... |
outlook | What is the outlook for Syringomyelia ? | Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or a... |
information | What is (are) Lymphedema ? | Lymphedema is the name of a type of swelling. It happens when lymph builds up in your body's soft tissues. Lymph is a fluid that contains white blood cells that defend against germs. It can build up when the lymph system is damaged or blocked. It usually happens in the arms or legs. Causes of lymphedema include ... |
information | What is (are) Schistosomiasis ? | Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims fre... |
symptoms | What are the symptoms of Familial ventricular tachycardia ? | What are the signs and symptoms of Familial ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
symptoms | What are the symptoms of Mesomelic dysplasia Savarirayan type ? | What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
information | What is (are) Chromosome 8p deletion ? | Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of ... |
frequency | How many people are affected by pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada. |
inheritance | Is Spondyloepiphyseal dysplasia congenita inherited ? | How is spondyloepiphyseal dysplasia congenita inherited? Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; th... |
information | What is (are) Heart Failure ? | Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or "bad," cholesterol depends on how many other risk factors you have. Here are recommended LDL cholesterol goals. - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is... |
treatment | What are the treatments for Microcystic adnexal carcinoma ? | Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. There are no guidelines for the use of radiation... |
information | What is (are) Anal Cancer ? | The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus. Anal cancer is rare. It is more common in smokers and people over 50. You are also at h... |
treatment | What are the treatments for Familial osteochondritis dissecans ? | How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity ... |
research | what research (or clinical trials) is being done for Transitional Cell Cancer of the Renal Pelvis and Ureter ? | 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 Web site. Fulguration Fulguration... |
exams and tests | How to diagnose Renal Tubular Acidosis ? | To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium,... |
symptoms | What are the symptoms of Ectrodactyly polydactyly ? | What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
information | Do you have information about Personal Health Records | Summary : You've probably seen your chart at your doctor's office. In fact, you may have charts at several doctors' offices. If you've been in the hospital, you have a chart there, too. These charts are your medical records. They may be on paper or electronic. To keep track of all this information, it's a good idea to ... |
treatment | What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery ... |
treatment | What are the treatments for Wernicke-Korsakoff Syndrome ? | Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nut... |
symptoms | What are the symptoms of Russell-Silver syndrome ? | What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular... |
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