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What are the symptoms of Gupta Patton syndrome ? | What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What are the symptoms of Brooks Wisniewski Brown syndrome ? | What are the signs and symptoms of Brooks Wisniewski Brown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooks Wisniewski Brown 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 are the symptoms of Frontotemporal dementia, ubiquitin-positive ? | What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
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... | |
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... | |
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... | |
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... | |
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... | |
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... | |
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... | |
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... | |
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... | |
What is (are) Cockayne syndrome ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, toot... | |
What are the symptoms of Cockayne syndrome ? | What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne 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 are the symptoms of Harrod Doman Keele syndrome ? | What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele 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 are the symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV ? | What are the signs and symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Aphalangia partial with syndactyly and duplication of metatarsal IV. If the information is available, the table below includes how of... | |
What is (are) X-linked hypophosphatemia ? | X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinic... | |
What are the symptoms of X-linked hypophosphatemia ? | What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, s... | |
What causes X-linked hypophosphatemia ? | What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone th... | |
Is X-linked hypophosphatemia inherited ? | How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the... | |
How to diagnose X-linked hypophosphatemia ? | How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes ... | |
What are the treatments for X-linked hypophosphatemia ? | How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcit... | |
What are the symptoms of Kozlowski Celermajer Tink syndrome ? | What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Spinocerebellar ataxia 31 ? | What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. 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) WAGR syndrome ? | WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or interna... | |
What are the symptoms of WAGR syndrome ? | What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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 loo... | |
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... | |
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... | |
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). ... | |
What are the symptoms of Hereditary vascular retinopathy ? | What are the signs and symptoms of Hereditary vascular retinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary vascular retinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What are the symptoms of Juvenile myelomonocytic leukemia ? | What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. 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 are the symptoms of Johnson neuroectodermal syndrome ? | What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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 are the symptoms of Hyperinsulinemic hypoglycemia familial 2 ? | What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What is (are) Perniosis ? | Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occu... | |
What are the symptoms of Prieto X-linked mental retardation syndrome ? | What are the signs and symptoms of Prieto X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Bronchiolitis obliterans organizing pneumonia ? | Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but oft... | |
What are the symptoms of Bronchiolitis obliterans organizing pneumonia ? | What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include ... | |
What causes Bronchiolitis obliterans organizing pneumonia ? | What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP i... | |
How to diagnose Bronchiolitis obliterans organizing pneumonia ? | How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis. | |
What are the treatments for Bronchiolitis obliterans organizing pneumonia ? | How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial f... | |
What is (are) Autoimmune hemolytic anemia ? | Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/o... | |
What are the symptoms of Autoimmune hemolytic anemia ? | What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. 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 causes Autoimmune hemolytic anemia ? | What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a pers... | |
Is Autoimmune hemolytic anemia inherited ? | Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to r... | |
What are the symptoms of Minicore myopathy with external ophthalmoplegia ? | What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objec... | |
What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? | What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Renal tubular acidosis, distal, type 3 ? | What are the signs and symptoms of Renal tubular acidosis, distal, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What are the symptoms of Wittwer syndrome ? | What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | |
What are the symptoms of Chromosome 8p23.1 deletion ? | What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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) Chiari malformation type 2 ? | Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accomp... | |
What are the symptoms of Chiari malformation type 2 ? | What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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 MedlinePlus... | |
Is Chiari malformation type 2 inherited ? | Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental ... | |
What are the symptoms of Cornea guttata with anterior polar cataract ? | What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. 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 Cataract anterior polar dominant ? | What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar 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... | |
What are the symptoms of Brachydactyly types B and E combined ? | What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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 Rutherfurd syndrome ? | What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd 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 Dicti... | |
What is (are) Mucoepidermoid carcinoma ? | Mucoepidermoid carcinoma is a type of cancer of the salivary glands. Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas. Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how th... | |
What are the symptoms of Nystagmus, congenital motor, autosomal recessive ? | What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Anauxetic dysplasia ? | What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic 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 Dicti... | |
What is (are) Camptocormism ? | Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered,... | |
What is (are) Thiamine responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called "thiamine-responsive" because the a... | |
What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ? | What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia syndrome. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What is (are) Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body. Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms ma... | |
What are the symptoms of Lenz microphthalmia syndrome ? | What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia 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 Medline... | |
What is (are) Tetra-amelia syndrome ? | Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing diffi... | |
What are the symptoms of Tetra-amelia syndrome ? | What are the signs and symptoms of Tetra-amelia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetra-amelia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
How to diagnose Tetra-amelia syndrome ? | How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be... | |
What is (are) Loeys-Dietz syndrome ? | Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, ex... | |
What are the symptoms of Loeys-Dietz syndrome ? | What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | |
What is (are) 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... | |
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... | |
What is (are) Idiopathic thrombocytopenic purpura ? | Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatme... | |
What are the symptoms of Idiopathic thrombocytopenic purpura ? | What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. 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) Limb-girdle muscular dystrophy ? | Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are ... | |
Is Limb-girdle muscular dystrophy inherited ? | How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritan... | |
What are the treatments for Limb-girdle muscular dystrophy ? | How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGM... | |
What are the symptoms of Macrothrombocytopenia progressive deafness ? | What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Achondroplasia and severe combined immunodeficiency ? | Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the ... | |
What are the symptoms of Achondroplasia and severe combined immunodeficiency ? | What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. If the information is available, the table below includes how often the symptom is seen in peopl... | |
What are the symptoms of Schimke X-linked mental retardation syndrome ? | What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation syndrome. 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 Pallister W syndrome ? | What are the signs and symptoms of Pallister W syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister W 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 Immotile cilia syndrome, due to defective radial spokes ? | What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. If the information is available, the table below includes how often the symptom is seen ... | |
What is (are) Joubert syndrome ? | Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This ... | |
What are the symptoms of Joubert syndrome ? | What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | |
What causes Joubert syndrome ? | What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role ... | |
Is Joubert syndrome inherited ? | How is Joubert syndrome inherited? Joubert syndrome is predominantly 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 as... | |
What is (are) Ewing sarcoma ? | Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. ... | |
What are the symptoms of Ewing sarcoma ? | What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What causes Ewing sarcoma ? | What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcom... | |
Is Ewing sarcoma inherited ? | Is Ewing sarcoma an inherited condition? This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception (somatic mutation). Most cases are considered to be sporadic. However, the incidence of neuroectodermal and stomach malignancies is increased among family member... | |
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. | |
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... | |
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... | |
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... | |
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... | |
What is (are) Dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly bu... | |
What are the symptoms of Dermatofibrosarcoma protuberans ? | What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What causes Dermatofibrosarcoma protuberans ? | What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is ... | |
What are the symptoms of Aplasia cutis congenita of limbs recessive ? | What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
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