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What are the symptoms of Pretibial epidermolysis bullosa ? | What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial epidermolysis bullosa. 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 5q- syndrome ? | What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- 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 look ... | |
What are the symptoms of Proximal chromosome 18q deletion syndrome ? | What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion syndrome. 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 Escobar syndrome, type B ? | What are the signs and symptoms of Escobar syndrome, type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Escobar syndrome, type B. 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... | |
What are the symptoms of Dermatoosteolysis Kirghizian type ? | What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian 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 is (are) Transient neonatal diabetes mellitus ? | Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed... | |
What are the symptoms of Transient neonatal diabetes mellitus ? | What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Swyer-James syndrome ? | Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appear... | |
What are the symptoms of Swyer-James syndrome ? | What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impa... | |
What causes Swyer-James syndrome ? | What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to t... | |
What are the treatments for Swyer-James syndrome ? | How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports o... | |
What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ? | What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is see... | |
What are the symptoms of Van Bogaert-Hozay syndrome ? | What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay 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... | |
What is (are) Pontocerebellar hypoplasia type 2 ? | Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected peo... | |
What are the symptoms of Pontocerebellar hypoplasia type 2 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. 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 Jung Wolff Back Stahl syndrome ? | What are the signs and symptoms of Jung Wolff Back Stahl syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jung Wolff Back Stahl 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 Med... | |
What are the symptoms of Pheochromocytoma-islet cell tumor syndrome ? | What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Acanthoma ? | An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma". Though most individuals have only one acanthoma, there have been rare reports of individuals who have develop... | |
What are the treatments for Acanthoma ? | How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms. Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. For ex... | |
What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? | What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people ... | |
What is (are) Combined malonic and methylmalonic aciduria ? | Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (fa... | |
What are the symptoms of Combined malonic and methylmalonic aciduria ? | What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Wiedemann-Steiner syndrome ? | Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases resul... | |
What are the symptoms of Wiedemann-Steiner syndrome ? | What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner 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... | |
What is (are) Beriberi ? | Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and ... | |
What is (are) Brittle cornea syndrome ? | Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white pa... | |
What are the symptoms of Brittle cornea syndrome ? | What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea 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 Medic... | |
What are the symptoms of Pituitary hormone deficiency, combined 3 ? | What are the signs and symptoms of Pituitary hormone deficiency, combined 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 3. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What is (are) Split hand split foot malformation autosomal recessive ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, ... | |
What are the symptoms of Infantile myofibromatosis ? | What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. 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... | |
What are the symptoms of Holzgreve syndrome ? | What are the signs and symptoms of Holzgreve syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Holzgreve 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 Diction... | |
What is (are) Hydrops fetalis ? | Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cel... | |
What are the symptoms of Hydrops fetalis ? | What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. 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 are the symptoms of Spondyloepiphyseal dysplasia ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia. 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... | |
What are the symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency ? | What are the signs and symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. If the information is available, the t... | |
What is (are) Adiposis dolorosa ? | Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but... | |
What are the symptoms of Adiposis dolorosa ? | What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or... | |
What causes Adiposis dolorosa ? | What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers ha... | |
Is Adiposis dolorosa inherited ? | Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited... | |
How to diagnose Adiposis dolorosa ? | Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of ad... | |
What are the treatments for Adiposis dolorosa ? | How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no dr... | |
What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ? | What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is s... | |
What is (are) Chromosome 8q24.3 deletion syndrome ? | Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalitie... | |
What are the symptoms of Chromosome 8q24.3 deletion syndrome ? | What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion 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) Takayasu arteritis ? | Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impair... | |
What are the symptoms of Takayasu arteritis ? | What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. 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 Takayasu arteritis ? | How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity ... | |
What is (are) Human T-cell leukemia virus type 1 ? | Human T-cell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) ... | |
What are the symptoms of Human T-cell leukemia virus type 1 ? | What are the signs and symptoms of human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) generally causes no signs or symptoms. However, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical co... | |
What causes Human T-cell leukemia virus type 1 ? | What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. I... | |
How to diagnose Human T-cell leukemia virus type 1 ? | How is human T-cell leukemia virus, type 1 diagnosed? Human T-cell leukemia virus, type 1 (HTLV-1) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-1 is often never suspected or diagnosed since most people (95%) never develop any signs or symptoms of the infection. Diagnosis ... | |
What are the treatments for Human T-cell leukemia virus type 1 ? | How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the num... | |
What are the symptoms of Ulnar hypoplasia lobster claw deformity of feet ? | What are the signs and symptoms of Ulnar hypoplasia lobster claw deformity of feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar hypoplasia lobster claw deformity of feet. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become dama... | |
What are the symptoms of Alpha-1 antitrypsin deficiency ? | What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin deficiency. 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 causes Alpha-1 antitrypsin deficiency ? | What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body f... | |
How to diagnose Alpha-1 antitrypsin deficiency ? | How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. Confirming the diagnosis involves a blood... | |
What are the treatments for Alpha-1 antitrypsin deficiency ? | How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing... | |
What is (are) Pendred syndrome ? | Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. I... | |
What are the symptoms of Pendred syndrome ? | What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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 ... | |
Is Pendred syndrome inherited ? | How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited fro... | |
What is (are) Intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third ... | |
What are the symptoms of Intrahepatic cholestasis of pregnancy ? | What are the signs and symptoms of Intrahepatic cholestasis of pregnancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrahepatic cholestasis of pregnancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What causes Intrahepatic cholestasis of pregnancy ? | What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A person... | |
How to diagnose Intrahepatic cholestasis of pregnancy ? | How is intrahepatic cholestasis of pregnancy diagnosed? Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. The diagnosis is typically confirmed with the finding of ... | |
What are the treatments for Intrahepatic cholestasis of pregnancy ? | How might intrahepatic cholestasis of pregnancy be treated? Treatment for intrahepatic cholestasis of pregnancy aims to relieve itching and prevent complications. Medications utilized to relieve itching might include ursodiol (Actigall, Urso), which helps decrease the level of bile in the mother's bloodstream, relieve... | |
What are the symptoms of Glomerulonephritis with sparse hair and telangiectases ? | What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. If the information is available, the table below includes how often the symptom is seen in... | |
What is (are) Childhood hypophosphatasia ? | Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral... | |
What are the symptoms of Childhood hypophosphatasia ? | What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. 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... | |
What are the symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial ? | What are the signs and symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile convulsions and paroxysmal choreoathetosis, familial. If the information is available, the table below includes how often the sy... | |
What is (are) Amyotrophic lateral sclerosis ? | Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitchin... | |
What are the symptoms of Amyotrophic lateral sclerosis ? | What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. 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 causes Amyotrophic lateral sclerosis ? | What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a fa... | |
Is Amyotrophic lateral sclerosis inherited ? | Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the condition in their family. The remaining 5-10% of cases are familial, and are thought to be caused by mutations in any one of several genes. The inheritance pattern as... | |
How to diagnose Amyotrophic lateral sclerosis ? | Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering ... | |
What are the treatments for Amyotrophic lateral sclerosis ? | How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole ... | |
What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ? | Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic... | |
What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ? | What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, de... | |
What is (are) Monoclonal mast cell activation syndrome ? | Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic... | |
What are the symptoms of Lethal congenital contracture syndrome 1 ? | What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
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... | |
What are the symptoms of Hypoplastic left heart syndrome ? | What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. At bi... | |
What are the treatments for Hypoplastic left heart syndrome ? | How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by kee... | |
What is (are) Juvenile-onset dystonia ? | Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, t... | |
What are the symptoms of Juvenile-onset dystonia ? | What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. 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 Medic... | |
What is (are) Meningioma ? | Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if thei... | |
What are the treatments for Meningioma ? | How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Rad... | |
What is (are) KBG syndrome ? | KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay;... | |
What are the symptoms of KBG syndrome ? | What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features ... | |
What are the symptoms of Woolly hair syndrome ? | What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair 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 Dic... | |
What is (are) Familial atrial fibrillation ? | Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmi... | |
What are the symptoms of Familial atrial fibrillation ? | What are the signs and symptoms of Familial atrial fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial atrial fibrillation. 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... | |
What are the treatments for Familial atrial fibrillation ? | How might familial atrial fibrillation be treated? We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general. Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may invo... | |
What are the symptoms of Brachyolmia ? | What are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. 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... | |
What is (are) AL amyloidosis ? | AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, ... | |
What are the symptoms of Hirschsprung disease polydactyly heart disease ? | What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with thi... | |
What is (are) Linear scleroderma ? | Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abn... | |
What is (are) Hemifacial microsomia ? | Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia... | |
What are the symptoms of Hemifacial microsomia ? | What are the signs and symptoms of Hemifacial microsomia? People with hemifacial microsomia may have various signs and symptoms, including: Facial asymmetry Abnormalities of the outer ear such as absence, reduced size (hypoplasia), and/or displacement Small and/or flattened maxillary, temporal, and malar bones Deafness... | |
What causes Hemifacial microsomia ? | What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested ... |
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