Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What are the treatments for Warthin tumor ? | How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed. | |
What is (are) TEMPI syndrome ? | TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lu... | |
What is (are) Diffuse idiopathic skeletal hyperostosis ? | Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper b... | |
What are the symptoms of Diffuse idiopathic skeletal hyperostosis ? | What are the signs and symptoms of Diffuse idiopathic skeletal hyperostosis? Many people affected by diffuse idiopathic skeletal hyperostosis (DISH) have no signs or symptoms of the condition. When present, symptoms vary but many include: Stiffness which is most noticeable in the morning Pain when pressure is applied t... | |
What causes Diffuse idiopathic skeletal hyperostosis ? | What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as ... | |
How to diagnose Diffuse idiopathic skeletal hyperostosis ? | How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic res... | |
What are the treatments for Diffuse idiopathic skeletal hyperostosis ? | How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inf... | |
What is (are) Twin twin transfusion syndrome ? | Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood... | |
What are the symptoms of Blepharophimosis with ptosis, syndactyly, and short stature ? | What are the signs and symptoms of Blepharophimosis with ptosis, syndactyly, and short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis with ptosis, syndactyly, and short stature. If the information is available, the table below includes how often the symptom ... | |
What are the symptoms of Mental retardation Smith Fineman Myers type ? | What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Bixler Christian Gorlin syndrome ? | What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin 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... | |
What is (are) Hemolytic uremic syndrome, atypical, childhood ? | Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combi... | |
What are the symptoms of Carney triad ? | What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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 Corneal hypesthesia, familial ? | What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, 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 Medli... | |
What are the symptoms of Odontomicronychial dysplasia ? | What are the signs and symptoms of Odontomicronychial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontomicronychial 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 Preaxial polydactyly type 2 ? | What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly 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 the MedlinePl... | |
What is (are) Orofaciodigital syndrome 2 ? | Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be af... | |
What are the symptoms of Orofaciodigital syndrome 2 ? | What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easi... | |
What causes Orofaciodigital syndrome 2 ? | What causes orofaciodigital syndrome type 2? Orofaciodigital syndrome type 2 is caused by mutations (changes) of an as yet unidentified gene. | |
Is Orofaciodigital syndrome 2 inherited ? | How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition. | |
What are the treatments for Orofaciodigital syndrome 2 ? | What treatment is available for orofaciodigital syndrome type 2? Treatment is dependent on the symptoms. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities. | |
What are the symptoms of Spondyloepimetaphyseal dysplasia X-linked ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Myelodysplastic syndromes ? | Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath... | |
What are the symptoms of Myelodysplastic syndromes ? | What are the signs and symptoms of Myelodysplastic syndromes? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelodysplastic syndromes. 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 causes Myelodysplastic syndromes ? | What causes myelodysplastic syndromes? It is known that the abnormal development of blood cells associated with myelodysplastic syndromes (MDS) develops as the result of a series of somatic genetic changes - mutations that are not inherited that arise after conception - in cells that later become blood cells. These cha... | |
What is (are) Michelin tire baby syndrome ? | Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital). The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows. MTBS may be associated with ... | |
What are the symptoms of Michelin tire baby syndrome ? | What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby 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 MedlinePl... | |
What is (are) Porphyria cutanea tarda ? | Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fr... | |
What are the symptoms of Porphyria cutanea tarda ? | What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. 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 Spinocerebellar ataxia 23 ? | What are the signs and symptoms of Spinocerebellar ataxia 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 23. 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 is (are) Neurofibromatosis ? | Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnorma... | |
Is Neurofibromatosis inherited ? | Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may resul... | |
What are the symptoms of Preaxial polydactyly type 4 ? | What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. 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 Seow Najjar syndrome ? | What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar 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 are the symptoms of Thumb stiff brachydactyly mental retardation ? | What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What are the symptoms of Osteoarthropathy of fingers familial ? | What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What are the symptoms of Chromosome 17p13.1 deletion syndrome ? | What are the signs and symptoms of Chromosome 17p13.1 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17p13.1 deletion syndrome. 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) Fibromuscular dysplasia ? | Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Narrowi... | |
What are the symptoms of Fibromuscular dysplasia ? | What are the signs and symptoms of Fibromuscular dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibromuscular 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 MedlinePlus Medic... | |
What causes Fibromuscular dysplasia ? | What causes fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. Approximately 28 percent of... | |
What are the symptoms of Spastic paraplegia 39 ? | What are the signs and symptoms of Spastic paraplegia 39? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 39. 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) Limb-girdle muscular dystrophy, type 2C ? | Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weak... | |
What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the treatments for Limb-girdle muscular dystrophy, type 2C ? | What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical manag... | |
What are the symptoms of Stratton-Garcia-Young syndrome ? | What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young 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 is (are) Granuloma annulare ? | Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injec... | |
What are the symptoms of Granuloma annulare ? | What symptoms are associated with granuloma annulare? People with this condition usually notice a ring of small, firm bumps (papules) over the backs of the forearms, hands or feet. Occasionally, multiple rings may be found. Rarely, granuloma annulare may appear as a firm nodule under the skin of the arms or legs. | |
What causes Granuloma annulare ? | What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepat... | |
What are the treatments for Granuloma annulare ? | How might granuloma annulare be treated? Granuloma annulare is difficult to treat and there are a limited number of clinical trials to reliably inform patients and physicians of the treatment options. Fortunately, most lesions of granuloma annulare disappear with no treatment within two years. Sometimes, however, the r... | |
What are the symptoms of ITCH E3 ubiquitin ligase deficiency ? | What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What are the symptoms of Nephrosis deafness urinary tract digital malformation ? | What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. If the information is available, the table below includes how often the symptom is seen in p... | |
What is (are) Reticulohistiocytoma ? | Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocyte... | |
What causes Reticulohistiocytoma ? | What causes reticulohistiocytoma? While it is known that reticulohistiocytoma (RH) develop due to a rapid production of immune cells (histiocytes) in the skin or soft tissues, the cause of this process is not currently known. | |
How to diagnose Reticulohistiocytoma ? | How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surroundin... | |
What are the treatments for Reticulohistiocytoma ? | How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure. | |
What are the symptoms of Glaucoma sleep apnea ? | What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. 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) Charcot-Marie-Tooth disease type 2B ? | Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2B ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Sudden sensorineural hearing loss ? | Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorine... | |
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%. | |
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... | |
What are the symptoms of Angioma serpiginosum, autosomal dominant ? | What are the signs and symptoms of Angioma serpiginosum, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What is (are) Polycythemia vera ? | Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries a... | |
What are the symptoms of Polycythemia vera ? | What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. 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... | |
Is Polycythemia vera inherited ? | Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the... | |
What are the treatments for Polycythemia vera ? | What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry... | |
What are the symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus ? | What are the signs and symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus. If the information is available, the tab... | |
What is (are) Stargardt disease ? | Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have ... | |
What are the symptoms of Stargardt disease ? | What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt 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 Medical Dictionar... | |
Is Stargardt disease inherited ? | How is Stargardt disease inherited? Stargardt disease is most commonly 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to ... | |
How to diagnose Stargardt disease ? | Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for... | |
What are the treatments for Stargardt disease ? | How might Stargardt disease be treated? At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A... | |
What are the symptoms of Deafness oligodontia syndrome ? | What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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) Carbon baby syndrome ? | Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. | |
What is (are) Brooke-Spiegler syndrome ? | Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindrom... | |
What are the symptoms of Brooke-Spiegler syndrome ? | What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler 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 Med... | |
What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ? | What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. If the information is avai... | |
What are the symptoms of Kowarski syndrome ? | What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski 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 is (are) Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomitin... | |
What are the symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | What are the signs and symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes? The signs and symptoms of MELAS often appear in childhood following a period of normal development. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizu... | |
Is Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes inherited ? | How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes ... | |
How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon ... | |
What is (are) Familial dermographism ? | Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usuall... | |
What are the symptoms of Familial dermographism ? | What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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... | |
What is (are) Acrodysplasia scoliosis ? | Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appe... | |
What are the symptoms of Acrodysplasia scoliosis ? | What are the signs and symptoms of Acrodysplasia scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodysplasia scoliosis. 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) Glycogen storage disease type 13 ? | Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inheri... | |
What are the symptoms of Glycogen storage disease type 13 ? | What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia). Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontolog... | |
What causes Glycogen storage disease type 13 ? | What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. The ENO3 gene makes a chemical ca... | |
How to diagnose Glycogen storage disease type 13 ? | How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene. | |
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... | |
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... | |
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... | |
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. | |
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... | |
What are the symptoms of Auriculo-condylar syndrome ? | What are the signs and symptoms of Auriculo-condylar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar 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) Blastomycosis ? | Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infe... | |
What is (are) MTHFR gene mutation ? | MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the bl... | |
What are the symptoms of MTHFR gene mutation ? | What are the signs and symptoms of MTHFR gene mutations? People with MTHFR gene mutations may develop elevated levels of homocysteine in their blood (homocysteinemia) or urine (homocystinuria). Risks for health effects vary depending on the levels of homocysteine. A few cases of severe homocysteinemia have been due to ... | |
Is MTHFR gene mutation inherited ? | How is a MTHFR gene mutation inherited? Because each person has two copies of the MTHFR gene, people can inherit one copy of the MTHFR mutation or two copies (one from each parent). People who inherit two copies of a common MTHFR gene mutation (for example two C677T mutations or a C677T mutation and a A1298C mutation) ... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.