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What is (are) Osteochondritis dissecans ? | Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness ... | |
What are the symptoms of Osteochondritis dissecans ? | What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage an... | |
What causes Osteochondritis dissecans ? | What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone ... | |
How to diagnose Osteochondritis dissecans ? | How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomograph... | |
What are the treatments for 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 ... | |
What are the symptoms of Pterygium colli mental retardation digital anomalies ? | What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in peo... | |
What is (are) Chorea-acanthocytosis ? | Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscle... | |
What are the symptoms of Chorea-acanthocytosis ? | What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Another common fea... | |
Is Chorea-acanthocytosis inherited ? | How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis 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 s... | |
What are the treatments for Chorea-acanthocytosis ? | How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective d... | |
What is (are) Hereditary diffuse leukoencephalopathy with spheroids ? | Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroi... | |
What are the symptoms of Hereditary diffuse leukoencephalopathy with spheroids ? | What are the signs and symptoms of Hereditary diffuse leukoencephalopathy with spheroids? HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of th... | |
What causes Hereditary diffuse leukoencephalopathy with spheroids ? | What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor t... | |
Is Hereditary diffuse leukoencephalopathy with spheroids inherited ? | How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases resu... | |
What is (are) Liposarcoma ? | Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. | |
What are the treatments for Liposarcoma ? | How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cann... | |
What is (are) Mercury poisoning ? | Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental filli... | |
What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ? | What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. If the information is available, the table below includes how often the symp... | |
What is (are) Wandering spleen ? | Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen m... | |
What are the treatments for Wandering spleen ? | How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal.... | |
What is (are) Metachromatic leukodystrophy ? | Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals e... | |
What are the symptoms of Metachromatic leukodystrophy ? | What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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... | |
Is Metachromatic leukodystrophy inherited ? | How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. ... | |
How to diagnose Metachromatic leukodystrophy ? | Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. ... | |
What are the symptoms of Lung agenesis ? | What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What is (are) Secondary adrenal insufficiency ? | Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adr... | |
What is (are) Epidermolysis bullosa ? | Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional... | |
Is Epidermolysis bullosa inherited ? | How is epidermolysis bullosa inherited? Inherited epidermolysis bullosa (EB) may follow either an autosomal dominant or autosomal recessive inheritance pattern, depending on the type and subtype of inherited EB in the affected person. Epidermolysis bullosa simplex (the most common type of EB) is mainly autosomal domina... | |
What are the treatments for Epidermolysis bullosa ? | How might infections in individuals with epidermolysis bullosa be treated? The chance of contracting a skin infection can be reduced by good nutrition, which builds the bodys defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, a doctor may recomme... | |
What is (are) Niemann-Pick disease type A ? | Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-... | |
What are the symptoms of Niemann-Pick disease type A ? | What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the treatments for Niemann-Pick disease type A ? | How might Niemann-Pick disease type A be treated? There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms: A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical ther... | |
What are the symptoms of Congenital lipoid adrenal hyperplasia ? | What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Pseudopseudohypoparathyroidism ? | Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting... | |
What are the symptoms of Pseudopseudohypoparathyroidism ? | What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Majeed syndrome ? | Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to... | |
What are the symptoms of Majeed syndrome ? | What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of... | |
What causes Majeed syndrome ? | What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell divisio... | |
Is Majeed syndrome inherited ? | How is Majeed syndrome inherited? Majeed syndrome 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. Although carriers typically do not show signs and... | |
What are the treatments for Majeed syndrome ? | How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroid... | |
What are the symptoms of Madokoro Ohdo Sonoda syndrome ? | What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 Medli... | |
What is (are) Potocki-Shaffer syndrome ? | Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone... | |
What are the symptoms of Potocki-Shaffer syndrome ? | What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal fo... | |
What are the treatments for Potocki-Shaffer syndrome ? | How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of anirid... | |
What is (are) Multisystemic smooth muscle dysfunction syndrome ? | Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the... | |
What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ? | What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems W... | |
What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ? | Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience beh... | |
What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ? | What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. If the information is available, the table below includes how often the symptom is seen in peo... | |
What is (are) Michels syndrome ? | Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry,... | |
What are the symptoms of Michels syndrome ? | What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels 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 ... | |
What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect... | |
What are the symptoms of Paget disease of bone ? | What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What is (are) Chronic progressive external ophthalmoplegia ? | Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and droopi... | |
What are the symptoms of Chronic progressive external ophthalmoplegia ? | What are the signs and symptoms of Chronic progressive external ophthalmoplegia? The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40. The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or... | |
Is Chronic progressive external ophthalmoplegia inherited ? | Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the ge... | |
What are the treatments for Chronic progressive external ophthalmoplegia ? | How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (doub... | |
What is (are) Stiff person syndrome ? | Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as ... | |
What are the symptoms of Stiff person syndrome ? | What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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 D... | |
What causes Stiff person syndrome ? | What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in som... | |
Is Stiff person syndrome inherited ? | Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics m... | |
How to diagnose Stiff person syndrome ? | Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the cha... | |
What are the treatments for Stiff person syndrome ? | How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective ... | |
What is (are) Squamous cell carcinoma of the head and neck ? | Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. A... | |
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... | |
What are the symptoms of IMAGe syndrome ? | What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe 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... | |
What is (are) Bilateral frontal polymicrogyria ? | Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify t... | |
What is (are) Chondrodysplasia punctata 1, X-linked recessive ? | Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear be... | |
What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ? | What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ? | What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What are the symptoms of Reticular dysgenesis ? | What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. 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... | |
What are the symptoms of Chang Davidson Carlson syndrome ? | What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Alport syndrome ? | Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late chi... | |
What are the symptoms of Alport syndrome ? | What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport 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... | |
What causes Alport syndrome ? | What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized... | |
Is Alport syndrome inherited ? | How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only o... | |
What are the treatments for Alport syndrome ? | How might Alport syndrome be treated? Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important. Research suggests that ACE inhibitors can help reduce... | |
What are the symptoms of Hirschsprung disease type d brachydactyly ? | What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What are the symptoms of Pheochromocytoma, childhood ? | What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Malignant hyperthermia arthrogryposis torticollis ? | What are the signs and symptoms of Malignant hyperthermia arthrogryposis torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia arthrogryposis torticollis. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What is (are) Ovarian small cell carcinoma ? | Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy. | |
What are the treatments for Ovarian small cell carcinoma ? | What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen ... | |
What is (are) Kawasaki syndrome ? | Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mou... | |
What are the symptoms of Kawasaki syndrome ? | What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki 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 Dictionar... | |
What causes Kawasaki syndrome ? | What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T ... | |
Is Kawasaki syndrome inherited ? | Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown. | |
What are the treatments for Kawasaki syndrome ? | How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin... | |
What are the symptoms of Hall Riggs mental retardation syndrome ? | What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What are the symptoms of Heart-hand syndrome, Spanish type ? | What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Focal palmoplantar and gingival keratoderma ? | What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Sprengel deformity ? | Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a ... | |
What are the symptoms of Sprengel deformity ? | What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both... | |
What are the treatments for Sprengel deformity ? | How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require s... | |
What are the symptoms of Mucopolysaccharidosis type VII ? | What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Mevalonic aciduria ? | Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, di... | |
What are the symptoms of Mevalonic aciduria ? | What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | |
What are the treatments for Mevalonic aciduria ? | How might mevalonic aciduria be treated? Treatment of mevalonic aciduria remains a challenge. There is no standard treatment that is effective in all patients, so it remains mainly supportive. Treatment with simvastatin (an inhibitor of hydroxymethylglutaryl coenzyme A reductase, the enzyme that catalyzes the formation... | |
What are the symptoms of Kaufman oculocerebrofacial syndrome ? | What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Bell's palsy ? | Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, d... | |
What are the symptoms of Bell's palsy ? | What are the symptoms of Bell's palsy? |
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