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What are the treatments for Hidradenocarcinoma ? | How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. Surgery is often the f... | Hidradenocarcinoma |
What are the symptoms of Olivopontocerebellar atrophy deafness ? | What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Olivopontocerebellar atrophy deafness |
What is (are) Homocystinuria ? | Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abno... | Homocystinuria |
What is (are) Lafora disease ? | Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterio... | Lafora disease |
What are the symptoms of Lafora disease ? | What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early chi... | Lafora disease |
What causes Lafora disease ? | What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one i... | Lafora disease |
Is Lafora disease inherited ? | Is Lafora disease inherited? Lafora disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers.... | Lafora disease |
How to diagnose Lafora disease ? | How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to dete... | Lafora disease |
What are the treatments for Lafora disease ? | How might Lafora disease be treated? Unfortunately, there is currently no cure for Lafora disease or way to slow the progression of the condition. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to managed generalized seizures. In the advanced sta... | Lafora disease |
What are the symptoms of Cone-rod dystrophy X-linked 2 ? | What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Cone-rod dystrophy X-linked 2 |
What is (are) Pilocytic astrocytoma ? | Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches... | Pilocytic astrocytoma |
What are the symptoms of Pilocytic astrocytoma ? | What are the signs and symptoms of pilocytic astrocytoma? People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull result... | Pilocytic astrocytoma |
What causes Pilocytic astrocytoma ? | What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syn... | Pilocytic astrocytoma |
Is Pilocytic astrocytoma inherited ? | Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. A... | Pilocytic astrocytoma |
What is (are) Pulmonary alveolar proteinosis acquired ? | Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. The symptoms can vary greatly... | Pulmonary alveolar proteinosis acquired |
What are the symptoms of Pulmonary alveolar proteinosis acquired ? | What are the signs and symptoms of Pulmonary alveolar proteinosis acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar proteinosis acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Pulmonary alveolar proteinosis acquired |
What are the treatments for Pulmonary alveolar proteinosis acquired ? | How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). ... | Pulmonary alveolar proteinosis acquired |
What is (are) Q fever ? | Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive fo... | Q fever |
What is (are) Neonatal hemochromatosis ? | Neonatal hemochromatosis is a disease in which too much iron builds up in the body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms ... | Neonatal hemochromatosis |
What are the symptoms of Neonatal hemochromatosis ? | What are the signs and symptoms of Neonatal hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal hemochromatosis. 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... | Neonatal hemochromatosis |
What is (are) Dihydropyrimidine dehydrogenase deficiency ? | Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. Signs and symptoms in severely affec... | Dihydropyrimidine dehydrogenase deficiency |
What are the symptoms of Dihydropyrimidine dehydrogenase deficiency ? | What are the signs and symptoms of Dihydropyrimidine dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidine dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Dihydropyrimidine dehydrogenase deficiency |
What causes Dihydropyrimidine dehydrogenase deficiency ? | What causes dihydropyrimidine dehydrogenase (DPD) deficiency? DPD deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are build... | Dihydropyrimidine dehydrogenase deficiency |
Is Dihydropyrimidine dehydrogenase deficiency inherited ? | How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD de... | Dihydropyrimidine dehydrogenase deficiency |
How to diagnose Dihydropyrimidine dehydrogenase deficiency ? | How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, whic... | Dihydropyrimidine dehydrogenase deficiency |
What are the treatments for Dihydropyrimidine dehydrogenase deficiency ? | How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life. | Dihydropyrimidine dehydrogenase deficiency |
What are the symptoms of Bile acid synthesis defect, congenital, 4 ? | What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Bile acid synthesis defect, congenital, 4 |
What is (are) Osteopetrosis autosomal dominant type 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | Osteopetrosis autosomal dominant type 2 |
What are the symptoms of Osteopetrosis autosomal dominant type 2 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Osteopetrosis autosomal dominant type 2 |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 4 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this cond... | X-linked Charcot-Marie-Tooth disease type 4 |
What is (are) Choroideremia ? | Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the abi... | Choroideremia |
What are the symptoms of Choroideremia ? | What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. 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... | Choroideremia |
What are the symptoms of Achard syndrome ? | What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard 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... | Achard syndrome |
What is (are) Geroderma osteodysplastica ? | Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a varia... | Geroderma osteodysplastica |
What are the symptoms of Geroderma osteodysplastica ? | What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. 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... | Geroderma osteodysplastica |
What is (are) Juvenile Huntington disease ? | Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotion... | Juvenile Huntington disease |
What are the symptoms of Juvenile Huntington disease ? | What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of... | Juvenile Huntington disease |
What causes Juvenile Huntington disease ? | What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin p... | Juvenile Huntington disease |
Is Juvenile Huntington disease inherited ? | How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed fr... | Juvenile Huntington disease |
How to diagnose Juvenile Huntington disease ? | How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autos... | Juvenile Huntington disease |
What are the treatments for Juvenile Huntington disease ? | How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reve... | Juvenile Huntington disease |
What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ? | What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is see... | Immunodeficiency without anhidrotic ectodermal dysplasia |
What is (are) Chromosome 7q deletion ? | Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | Chromosome 7q deletion |
What is (are) Spina bifida occulta ? | Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%. | Spina bifida occulta |
What are the symptoms of Spina bifida occulta ? | What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. 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... | Spina bifida occulta |
What is (are) Abdominal aortic aneurysm ? | Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the ... | Abdominal aortic aneurysm |
What are the symptoms of Abdominal aortic aneurysm ? | What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. 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... | Abdominal aortic aneurysm |
Is Abdominal aortic aneurysm inherited ? | Is abdominal aortic aneurysm inherited? Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome. Having a family history of AAA increases th... | Abdominal aortic aneurysm |
What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ? | What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. If the information is available, the table below includes how often the symptom is seen in people with t... | Thumb deformity, alopecia, pigmentation anomaly |
What is (are) Multiple endocrine neoplasia type 2A ? | Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals ... | Multiple endocrine neoplasia type 2A |
What are the symptoms of Multiple endocrine neoplasia type 2A ? | What are the signs and symptoms of Multiple endocrine neoplasia type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Multiple endocrine neoplasia type 2A |
Is Multiple endocrine neoplasia type 2A inherited ? | How is multiple endocrine neoplasia type 2A inherited? Multiple endocrine neoplasia type 2A (MEN 2A) is inherited in an autosomal dominant pattern. A person with MEN 2A often inherits the altered RET gene from one parent with the condition. | Multiple endocrine neoplasia type 2A |
What is (are) Cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms... | Cardiofaciocutaneous syndrome |
What are the symptoms of Cardiofaciocutaneous syndrome ? | What are the signs and symptoms of Cardiofaciocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiofaciocutaneous 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... | Cardiofaciocutaneous syndrome |
What are the treatments for Cardiofaciocutaneous syndrome ? | How might the the itching associated with cardiofaciocutaneous syndrome be treated? Xerosis (dry skin) and pruritus (itching) associated with cardiofaciocutaneous syndrome may be relieved by increasing the amount of moisture in the air or by using hydrating lotions. If signs of infection develop, treatment with antibio... | Cardiofaciocutaneous syndrome |
What is (are) Lupus nephritis ? | Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people age... | Lupus nephritis |
What are the symptoms of Glomus tympanicum tumor ? | What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. 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... | Glomus tympanicum tumor |
What are the symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate ? | What are the signs and symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly and ectodermal dysplasia without cleft lip/palate. If the information is available, the table below includes how often the sy... | Ectrodactyly and ectodermal dysplasia without cleft lip/palate |
What is (are) Polycystic liver disease ? | Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with ... | Polycystic liver disease |
What are the symptoms of Polycystic liver disease ? | What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. 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... | Polycystic liver disease |
What is (are) Acquired hemophilia A ? | Acquired hemophilia A is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bru... | Acquired hemophilia A |
What is (are) Carcinoid syndrome ? | Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, ski... | Carcinoid syndrome |
What are the symptoms of Laurence Prosser Rocker syndrome ? | What are the signs and symptoms of Laurence Prosser Rocker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurence Prosser Rocker 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... | Laurence Prosser Rocker syndrome |
What is (are) Mondini dysplasia ? | Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing l... | Mondini dysplasia |
What are the symptoms of Mondini dysplasia ? | What are the signs and symptoms of Mondini dysplasia? Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing. There h... | Mondini dysplasia |
What causes Mondini dysplasia ? | What causes Mondini dysplasia? The underlying cause of Mondini dysplasia (MD) in most individuals appears to remain unclear. Some have suggested that retinoids (vitamin A) or other factors a fetus may be exposed to early in pregnancy have contributed to some cases of isolated MD (occurring with no other abnormalities).... | Mondini dysplasia |
Is Mondini dysplasia inherited ? | Is Mondini dysplasia inherited? Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndr... | Mondini dysplasia |
How to diagnose Mondini dysplasia ? | Is genetic testing available for Mondini dysplasia? Genetic testing may be available for Mondini dysplasia if it is associated with a specific syndrome for which genetic testing is available, or if a mutation has previously been identified in an affected individual in the family. Unfortunately, for many cases of isolat... | Mondini dysplasia |
What are the treatments for Mondini dysplasia ? | How might Mondini dysplasia be treated? Surgery to repair the defect present with Mondini dysplasia is typically necessary to prevent recurrent meningitis. Prophylactic antimicrobial therapy (such as antibiotics) to prevent infection and conjugate pneumococcal vaccination are helpful in reducing the formation of bacter... | Mondini dysplasia |
What are the symptoms of Yorifuji Okuno syndrome ? | What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno 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... | Yorifuji Okuno syndrome |
What is (are) 15q13.3 microdeletion syndrome ? | 15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate mental retardation, l... | 15q13.3 microdeletion syndrome |
What are the symptoms of 15q13.3 microdeletion syndrome ? | What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion 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... | 15q13.3 microdeletion syndrome |
How to diagnose 15q13.3 microdeletion syndrome ? | Is genetic testing available for 15q13.3 microdeletion syndrome? Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting test... | 15q13.3 microdeletion syndrome |
What is (are) Dermatomyositis ? | Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterized by chronic muscle inflammation accompanied by muscle weakness. The cardinal symptom is a skin rash that precedes or accompanies progressive muscle weakness. Dermat... | Dermatomyositis |
What are the symptoms of Dermatomyositis ? | What are the signs and symptoms of Dermatomyositis? The signs and symptoms of dermatomyositis may appear suddenly or develop gradually, over weeks or months. The cardinal symptom of dermatomyositis is a skin rash that precedes or accompanies progressive muscle weakness. The rash looks patchy, with bluish-purple or red... | Dermatomyositis |
What causes Dermatomyositis ? | What causes dermatomyositis? The cause of this disorder is unknown. It is theorized that an autoimmune reaction (reactions caused by an immune response against the body's own tissues) or a viral infection of the skeletal muscle may cause the disease. In addition, some doctors think certain people may have a genetic sus... | Dermatomyositis |
What are the treatments for Dermatomyositis ? | How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid d... | Dermatomyositis |
What is (are) Ebstein's anomaly ? | Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the... | Ebstein's anomaly |
What are the symptoms of Ebstein's anomaly ? | What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. 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... | Ebstein's anomaly |
What are the symptoms of Van Regemorter Pierquin Vamos syndrome ? | What are the signs and symptoms of Van Regemorter Pierquin Vamos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Regemorter Pierquin Vamos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Van Regemorter Pierquin Vamos syndrome |
What are the symptoms of Pyruvate decarboxylase deficiency ? | What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Pyruvate decarboxylase deficiency |
What are the symptoms of Congenital torticollis ? | What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. 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... | Congenital torticollis |
What are the symptoms of Hodgkin lymphoma ? | What are the signs and symptoms of Hodgkin lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hodgkin lymphoma. 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 ... | Hodgkin lymphoma |
What is (are) Polyglucosan body disease, adult ? | Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may... | Polyglucosan body disease, adult |
What are the symptoms of Polyglucosan body disease, adult ? | What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Polyglucosan body disease, adult |
What is (are) Intervertebral disc disease ? | Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals. Both environmental and genetic factors are thought to ... | Intervertebral disc disease |
What causes Intervertebral disc disease ? | What causes intervertebral disc disease? Intervertebral disc disease (IDD) is a multifactorial disorder, which means that both genetic and environmental factors probably interact to predispose an individual to the condition. It is likely that several factors are needed for development of IDD. Factors such as occupation... | Intervertebral disc disease |
What are the treatments for Intervertebral disc disease ? | How might intervertebral disc disease be treated? In the absence of red flags, the initial approach to treatment is typically conservative and includes physical therapy and pain medications. In 90% of affected individuals, acute attacks of sciatica usually improve within 4 to 6 weeks without surgical intervention. In c... | Intervertebral disc disease |
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... | Brachyolmia |
What is (are) Fowler's syndrome ? | Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well. | Fowler's syndrome |
What are the symptoms of Fowler's syndrome ? | What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the fol... | Fowler's syndrome |
What causes Fowler's syndrome ? | What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a... | Fowler's syndrome |
How to diagnose Fowler's syndrome ? | How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the s... | Fowler's syndrome |
What are the treatments for Fowler's syndrome ? | How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. Neuromo... | Fowler's syndrome |
What is (are) Catamenial pneumothorax ? | Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that o... | Catamenial pneumothorax |
What are the symptoms of Catamenial pneumothorax ? | What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. 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... | Catamenial pneumothorax |
What causes Catamenial pneumothorax ? | What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women... | Catamenial pneumothorax |
How to diagnose Catamenial pneumothorax ? | How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis. | Catamenial pneumothorax |
What are the treatments for Catamenial pneumothorax ? | How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs an... | Catamenial pneumothorax |
What are the symptoms of Paget disease of bone, familial ? | What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, familial. 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... | Paget disease of bone, familial |
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