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What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery ... | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 |
What is (are) Frontonasal dysplasia ? | Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in ... | Frontonasal dysplasia |
What are the symptoms of Frontonasal dysplasia ? | What are the signs and symptoms of Frontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontonasal 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 Medical D... | Frontonasal dysplasia |
What is (are) Oligoastrocytoma ? | Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a com... | Oligoastrocytoma |
What are the symptoms of Perry syndrome ? | What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | Perry syndrome |
What is (are) Hereditary lymphedema type II ? | Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the... | Hereditary lymphedema type II |
What are the symptoms of Hereditary lymphedema type II ? | What are the signs and symptoms of Hereditary lymphedema type II? Hereditary lymphedema type II is characterized by the abnormal transport of lymph fluid. This causes the lymph fluid to build up, causing swelling (lymphedema). Individuals with hereditary lymphedema type II usually develop swelling in the lower legs and... | Hereditary lymphedema type II |
What causes Hereditary lymphedema type II ? | What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with th... | Hereditary lymphedema type II |
Is Hereditary lymphedema type II inherited ? | How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected fa... | Hereditary lymphedema type II |
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... | Amyotrophic lateral sclerosis |
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... | Amyotrophic lateral sclerosis |
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... | Amyotrophic lateral sclerosis |
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... | Amyotrophic lateral sclerosis |
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 ... | Amyotrophic lateral sclerosis |
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 ... | Amyotrophic lateral sclerosis |
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... | Blastomycosis |
What are the symptoms of XK aprosencephaly ? | What are the signs and symptoms of XK aprosencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for XK aprosencephaly. 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... | XK aprosencephaly |
What is (are) Familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the... | Familial hypertrophic cardiomyopathy |
What are the symptoms of Familial hypertrophic cardiomyopathy ? | What are the signs and symptoms of Familial hypertrophic cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypertrophic cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Familial hypertrophic cardiomyopathy |
What causes Familial hypertrophic cardiomyopathy ? | What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. The genes... | Familial hypertrophic cardiomyopathy |
Is Familial hypertrophic cardiomyopathy inherited ? | How is familial hypertrophic cardiomyopathy inherited? Familial hypertrophic cardiomyopathy (HCM) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. When a person with an autosomal domina... | Familial hypertrophic cardiomyopathy |
How to diagnose Familial hypertrophic cardiomyopathy ? | Is genetic testing available for familial hypertrophic cardiomyopathy? Yes. Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several known genes, and possibly other genes that have not yet been identified. Genetic testing for HCM is most informative as a "family test" rather than a test of on... | Familial hypertrophic cardiomyopathy |
What are the symptoms of Neutropenia chronic familial ? | What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic 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 Medline... | Neutropenia chronic familial |
What are the symptoms of Bork Stender Schmidt syndrome ? | What are the signs and symptoms of Bork Stender Schmidt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bork Stender Schmidt 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... | Bork Stender Schmidt syndrome |
What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young ch... | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
What are the symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? | What are the signs and symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. If the information is available, the table below includes ... | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
What is (are) Unna-Thost palmoplantar keratoderma ? | Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased s... | Unna-Thost palmoplantar keratoderma |
What are the symptoms of Unna-Thost palmoplantar keratoderma ? | What are the signs and symptoms of Unna-Thost palmoplantar keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Unna-Thost palmoplantar keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Unna-Thost palmoplantar keratoderma |
What are the treatments for Unna-Thost palmoplantar keratoderma ? | How might Unna-Thost palmoplantar keratoderma be treated? The following treatments can help to soften the thickened skin and make it less noticeable: Emollients Keratolytics (such as salicylic acid in propylene glycol) Topical retinoids Topical vitamin D ointment (calcipotriol) Systemic retinoids (acitretin) Antifung... | Unna-Thost palmoplantar keratoderma |
What is (are) Phaeohyphomycosis ? | Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-s... | Phaeohyphomycosis |
What are the symptoms of Acrofacial dysostosis Catania type ? | What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Acrofacial dysostosis Catania type |
What are the symptoms of Split hand urinary anomalies spina bifida ? | What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Split hand urinary anomalies spina bifida |
What are the symptoms of Spondylometaphyseal dysplasia corner fracture type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture type. If the information is available, the table below includes how often the symptom is seen in people ... | Spondylometaphyseal dysplasia corner fracture type |
What are the symptoms of Bamforth syndrome ? | What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth 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... | Bamforth syndrome |
What is (are) Acquired hemophilia ? | Acquired hemophilia 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, bruis... | Acquired hemophilia |
What is (are) Chronic progressive external ophthalmoplegia ? | Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and droopi... | Chronic progressive external ophthalmoplegia |
What are the symptoms of Chronic progressive external ophthalmoplegia ? | What are the signs and symptoms of Chronic progressive external ophthalmoplegia? The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40. The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or... | Chronic progressive external ophthalmoplegia |
Is Chronic progressive external ophthalmoplegia inherited ? | Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the ge... | Chronic progressive external ophthalmoplegia |
What are the treatments for Chronic progressive external ophthalmoplegia ? | How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (doub... | Chronic progressive external ophthalmoplegia |
What is (are) SCOT deficiency ? | SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT de... | SCOT deficiency |
What are the symptoms of SCOT deficiency ? | What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of sev... | SCOT deficiency |
How to diagnose SCOT deficiency ? | How is SCOT deficiency diagnosed? Diagnosis of SCOT deficiency is made in people showing the signs and symptoms of the condition and who have absent or reduced SCOT enzyme activity. | SCOT deficiency |
What are the treatments for SCOT deficiency ? | How might carnitine palmitoyltransferase I deficiency be treated? Treatment of hypoketotic hypoglycemic attacks due to carnitine palmitoyltransferase I deficiency often involves prompt treatment with intravenous 10% dextrose. | SCOT deficiency |
What are the symptoms of Adrenocortical carcinoma ? | What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. 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... | Adrenocortical carcinoma |
What is (are) Afibrinogenemia ? | Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleed... | Afibrinogenemia |
What are the symptoms of Afibrinogenemia ? | What are the signs and symptoms of Afibrinogenemia? In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following: Epistaxis (nosebleeds... | Afibrinogenemia |
What causes Afibrinogenemia ? | What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (F... | Afibrinogenemia |
Is Afibrinogenemia inherited ? | Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a dise... | Afibrinogenemia |
What are the treatments for Afibrinogenemia ? | How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a ve... | Afibrinogenemia |
What are the symptoms of Retinoschisis autosomal dominant ? | What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Retinoschisis autosomal dominant |
What are the symptoms of Dennis Fairhurst Moore syndrome ? | What are the signs and symptoms of Dennis Fairhurst Moore syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dennis Fairhurst Moore syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Dennis Fairhurst Moore syndrome |
What is (are) Buerger disease ? | Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or o... | Buerger disease |
What are the symptoms of Buerger disease ? | What are the signs and symptoms of Buerger disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Buerger 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 Dictionary to... | Buerger disease |
What causes Buerger disease ? | What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extr... | Buerger disease |
What are the treatments for Buerger disease ? | How is Buerger disease treated? Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products. Even one cigarette a day can worsen the disease. A doctor can help a person with Buerger disease l... | Buerger disease |
What are the symptoms of Game Friedman Paradice syndrome ? | What are the signs and symptoms of Game Friedman Paradice syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Game Friedman Paradice syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Game Friedman Paradice syndrome |
What are the symptoms of Early-onset myopathy, areflexia, respiratory distress and dysphagia ? | What are the signs and symptoms of Early-onset myopathy, areflexia, respiratory distress and dysphagia? The Human Phenotype Ontology provides the following list of signs and symptoms for Early-onset myopathy, areflexia, respiratory distress and dysphagia. If the information is available, the table below includes how of... | Early-onset myopathy, areflexia, respiratory distress and dysphagia |
What is (are) Familial hypercholesterolemia ? | Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of exces... | Familial hypercholesterolemia |
What are the symptoms of Familial hypercholesterolemia ? | What are the signs and symptoms of Familial hypercholesterolemia? Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include: Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a ... | Familial hypercholesterolemia |
Is Familial hypercholesterolemia inherited ? | How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (... | Familial hypercholesterolemia |
What are the treatments for Familial hypercholesterolemia ? | How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozy... | Familial hypercholesterolemia |
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... | Holzgreve syndrome |
What are the symptoms of Rhabdomyosarcoma alveolar ? | What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. 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... | Rhabdomyosarcoma alveolar |
What are the symptoms of Nodular regenerative hyperplasia ? | What are the signs and symptoms of Nodular regenerative hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular regenerative hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Nodular regenerative hyperplasia |
What is (are) Proud syndrome ? | Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutation... | Proud syndrome |
What are the symptoms of Proud syndrome ? | What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, chara... | Proud syndrome |
What causes Proud syndrome ? | What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures s... | Proud syndrome |
Is Proud syndrome inherited ? | How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and m... | Proud syndrome |
What are the treatments for Proud syndrome ? | How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizure... | Proud syndrome |
What is (are) Accessory navicular bone ? | An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. This bone may develop a bump that can cau... | Accessory navicular bone |
What are the symptoms of Accessory navicular bone ? | What are the signs and symptoms of Accessory navicular bone? Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. Symptoms may wors... | Accessory navicular bone |
What causes Accessory navicular bone ? | What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains. | Accessory navicular bone |
What are the treatments for Accessory navicular bone ? | How might accessory navicular bone be treated? If the accessory navicular bone is causing symptoms, activities may be restricted and a softer shoe may be recommended until the symptoms go away. If the symptoms persist a specially and carefully made shoe support may be tried. In children the condition usually resolves o... | Accessory navicular bone |
What is (are) Pseudopseudohypoparathyroidism ? | Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting... | Pseudopseudohypoparathyroidism |
What are the symptoms of Pseudopseudohypoparathyroidism ? | What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Pseudopseudohypoparathyroidism |
What is (are) Hardikar syndrome ? | Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects... | Hardikar syndrome |
What are the symptoms of Hardikar syndrome ? | What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar 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... | Hardikar syndrome |
What are the symptoms of Graham Boyle Troxell syndrome ? | What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell 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... | Graham Boyle Troxell syndrome |
What is (are) Alzheimer disease ? | Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no h... | Alzheimer disease |
What is (are) X-linked visceral heterotaxy 1 ? | X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen ... | X-linked visceral heterotaxy 1 |
What are the symptoms of X-linked visceral heterotaxy 1 ? | What are the signs and symptoms of X-linked visceral heterotaxy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked visceral heterotaxy 1. 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... | X-linked visceral heterotaxy 1 |
What is (are) Split hand foot malformation ? | 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, ... | Split hand foot malformation |
What are the symptoms of Split hand foot malformation ? | What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. 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... | Split hand foot malformation |
What causes Split hand foot malformation ? | What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the con... | Split hand foot malformation |
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, ... | AL amyloidosis |
What is (are) GRACILE syndrome ? | GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic... | GRACILE syndrome |
What are the symptoms of GRACILE syndrome ? | What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE 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 ... | GRACILE syndrome |
What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ? | What are the signs and symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. If the information is available, the table below includes how ofte... | Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus |
What is (are) Mucolipidosis type 4 ? | Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills)... | Mucolipidosis type 4 |
What are the symptoms of Mucolipidosis type 4 ? | What are the signs and symptoms of Mucolipidosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis 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 MedlinePlus Medical Dic... | Mucolipidosis type 4 |
What are the symptoms of Spinocerebellar ataxia 12 ? | What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 12. 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... | Spinocerebellar ataxia 12 |
What are the symptoms of Leigh syndrome, French Canadian type ? | What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Leigh syndrome, French Canadian type |
What is (are) Triple A syndrome ? | Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a mor... | Triple A syndrome |
What are the symptoms of Triple A syndrome ? | What are the signs and symptoms of Triple A syndrome? Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from... | Triple A syndrome |
What causes Triple A syndrome ? | What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and s... | Triple A syndrome |
Is Triple A syndrome inherited ? | How is triple A syndrome inherited? Triple A syndrome is inherited in an autosomal recessive pattern,which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as "carriers" but they typi... | Triple A syndrome |
What are the treatments for Triple A syndrome ? | How might triple A syndrome be treated? There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by replacemen... | Triple A syndrome |
What is (are) Spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large ... | Spondylocarpotarsal synostosis syndrome |
What are the symptoms of Spondylocarpotarsal synostosis syndrome ? | What are the signs and symptoms of Spondylocarpotarsal synostosis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocarpotarsal synostosis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Spondylocarpotarsal synostosis syndrome |
What is (are) Stenotrophomonas maltophilia infection ? | Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may b... | Stenotrophomonas maltophilia infection |
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