problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What are the symptoms of Bardet-Biedl syndrome 6 ? | What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. 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... | Bardet-Biedl syndrome 6 |
What is (are) Split hand split foot nystagmus ? | Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with... | Split hand split foot nystagmus |
What are the symptoms of Split hand split foot nystagmus ? | What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fu... | Split hand split foot nystagmus |
Is Split hand split foot nystagmus inherited ? | How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Some... | Split hand split foot nystagmus |
What are the symptoms of Apparent mineralocorticoid excess ? | What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Apparent mineralocorticoid excess |
What are the symptoms of Kosztolanyi syndrome ? | What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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... | Kosztolanyi syndrome |
What is (are) Epithelial basement membrane corneal dystrophy ? | Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's b... | Epithelial basement membrane corneal dystrophy |
What are the symptoms of Epithelial basement membrane corneal dystrophy ? | What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moder... | Epithelial basement membrane corneal dystrophy |
What are the treatments for Epithelial basement membrane corneal dystrophy ? | How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it... | Epithelial basement membrane corneal dystrophy |
What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | 17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, th... | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
What are the symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | What are the signs and symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-beta hydroxysteroid dehydrogenase 3 deficiency. If the information is available, the table below includes how often the symptom is seen in people wi... | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
What is (are) Brody myopathy ? | Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases ... | Brody myopathy |
What are the symptoms of Brody myopathy ? | What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. Th... | Brody myopathy |
What causes Brody myopathy ? | What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result ... | Brody myopathy |
How to diagnose Brody myopathy ? | How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A... | Brody myopathy |
What are the treatments for Brody myopathy ? | How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. | Brody myopathy |
What is (are) Familial progressive cardiac conduction defect ? | Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in seve... | Familial progressive cardiac conduction defect |
What are the symptoms of Familial progressive cardiac conduction defect ? | What are the signs and symptoms of Familial progressive cardiac conduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial progressive cardiac conduction defect. If the information is available, the table below includes how often the symptom is seen in people with thi... | Familial progressive cardiac conduction defect |
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... | Orofaciodigital syndrome 2 |
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... | Orofaciodigital syndrome 2 |
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. | Orofaciodigital syndrome 2 |
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. | Orofaciodigital syndrome 2 |
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. | Orofaciodigital syndrome 2 |
What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lo... | Miller syndrome |
What are the symptoms of Miller syndrome ? | What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller 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... | Miller syndrome |
What are the symptoms of Dwarfism, proportionate with hip dislocation ? | What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this co... | Dwarfism, proportionate with hip dislocation |
What is (are) Gray platelet syndrome ? | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or red... | Gray platelet syndrome |
What are the symptoms of Gray platelet syndrome ? | What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate i... | Gray platelet syndrome |
What are the treatments for Gray platelet syndrome ? | How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase t... | Gray platelet syndrome |
What are the symptoms of Familial partial lipodystrophy associated with PPARG mutations ? | What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. If the information is available, the table below includes how often the sy... | Familial partial lipodystrophy associated with PPARG mutations |
What is (are) Pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate ca... | Pyruvate carboxylase deficiency |
What are the symptoms of Pyruvate carboxylase deficiency ? | What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Pyruvate carboxylase deficiency |
Is Pyruvate carboxylase deficiency inherited ? | How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one ... | Pyruvate carboxylase deficiency |
What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? | What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people ... | Microcephaly brain defect spasticity hypernatremia |
What are the symptoms of Kallmann syndrome 6 ? | What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 6. 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... | Kallmann syndrome 6 |
What are the symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ? | What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. If the information is available, the table below includes how often ... | Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema |
What is (are) Lyme disease ? | Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech... | Lyme disease |
What are the symptoms of Lyme disease ? | What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme 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 look ... | Lyme disease |
What are the symptoms of Palmoplantar keratoderma, epidermolytic ? | What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Palmoplantar keratoderma, epidermolytic |
What is (are) Bilateral frontal polymicrogyria ? | Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify t... | Bilateral frontal polymicrogyria |
What is (are) GM1 gangliosidosis type 2 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | GM1 gangliosidosis type 2 |
What are the symptoms of GM1 gangliosidosis type 2 ? | What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis 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 M... | GM1 gangliosidosis type 2 |
What is (are) Limited systemic sclerosis ? | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction whic... | Limited systemic sclerosis |
What is (are) Junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condi... | Junctional epidermolysis bullosa |
What are the symptoms of Junctional epidermolysis bullosa ? | What are the signs and symptoms of Junctional epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Junctional epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Junctional epidermolysis bullosa |
What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? | What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen ... | Male pseudohermaphroditism due to defective LH molecule |
What are the symptoms of Fitzsimmons-Guilbert syndrome ? | What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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... | Fitzsimmons-Guilbert syndrome |
What is (are) Hemophilia B ? | Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from ble... | Hemophilia B |
What are the symptoms of Hemophilia B ? | What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | Hemophilia B |
What are the symptoms of Myeloperoxidase deficiency ? | What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Myeloperoxidase deficiency |
What is (are) Primrose syndrome ? | Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the con... | Primrose syndrome |
What are the symptoms of Primrose syndrome ? | What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearin... | Primrose syndrome |
What causes Primrose syndrome ? | What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chan... | Primrose syndrome |
What are the symptoms of Charcot-Marie-Tooth disease type 2N ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Charcot-Marie-Tooth disease type 2N |
What is (are) Young syndrome ? | Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent ... | Young syndrome |
What are the symptoms of Young syndrome ? | What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 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 MedlinePlus Medical Dictionary to l... | Young syndrome |
What are the symptoms of Subaortic stenosis short stature syndrome ? | What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Subaortic stenosis short stature syndrome |
What are the symptoms of 20p12.3 microdeletion syndrome ? | What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | 20p12.3 microdeletion syndrome |
What is (are) Hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early i... | Hereditary sensory and autonomic neuropathy type V |
What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? | What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people ... | Hereditary sensory and autonomic neuropathy type V |
What is (are) Rhabdoid tumor ? | Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In mos... | Rhabdoid tumor |
What are the symptoms of Rhabdoid tumor ? | What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | Rhabdoid tumor |
What are the symptoms of Chiari malformation type 3 ? | What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. 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... | Chiari malformation type 3 |
What is (are) Pyogenic granuloma ? | Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and ... | Pyogenic granuloma |
What are the symptoms of Woolly hair syndrome ? | What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | Woolly hair syndrome |
What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ? | What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. If the information i... | Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina |
What is (are) Marshall syndrome ? | Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this... | Marshall syndrome |
What are the symptoms of Marshall syndrome ? | What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall 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... | Marshall syndrome |
What is (are) Infectious arthritis ? | Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, ... | Infectious arthritis |
What is (are) Cold urticaria ? | Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cau... | Cold urticaria |
What are the symptoms of Cold urticaria ? | What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent... | Cold urticaria |
What causes Cold urticaria ? | What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rar... | Cold urticaria |
Is Cold urticaria inherited ? | Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. | Cold urticaria |
How to diagnose Cold urticaria ? | How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in whic... | Cold urticaria |
What are the treatments for Cold urticaria ? | How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected... | Cold urticaria |
What are the symptoms of Succinic acidemia ? | What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. 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... | Succinic acidemia |
What is (are) Mosaic trisomy 14 ? | Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauter... | Mosaic trisomy 14 |
What are the symptoms of Mosaic trisomy 14 ? | What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have ... | Mosaic trisomy 14 |
What causes Mosaic trisomy 14 ? | What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic tr... | Mosaic trisomy 14 |
What are the treatments for Mosaic trisomy 14 ? | How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be tre... | Mosaic trisomy 14 |
What is (are) Nevoid basal cell carcinoma syndrome ? | Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tu... | Nevoid basal cell carcinoma syndrome |
What are the symptoms of Nevoid basal cell carcinoma syndrome ? | What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large ... | Nevoid basal cell carcinoma syndrome |
Is Nevoid basal cell carcinoma syndrome inherited ? | How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may... | Nevoid basal cell carcinoma syndrome |
What are the treatments for Nevoid basal cell carcinoma syndrome ? | How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detect... | Nevoid basal cell carcinoma syndrome |
What are the symptoms of Waardenburg syndrome type 3 ? | What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. 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... | Waardenburg syndrome type 3 |
What are the symptoms of Microphthalmia syndromic 8 ? | What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. 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... | Microphthalmia syndromic 8 |
What are the symptoms of PPM-X syndrome ? | What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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... | PPM-X syndrome |
What are the symptoms of Van Bogaert-Hozay syndrome ? | What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Van Bogaert-Hozay syndrome |
What is (are) Juvenile retinoschisis ? | Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more common... | Juvenile retinoschisis |
What are the symptoms of Juvenile retinoschisis ? | What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. 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... | Juvenile retinoschisis |
What causes Juvenile retinoschisis ? | What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perha... | Juvenile retinoschisis |
Is Juvenile retinoschisis inherited ? | How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cau... | Juvenile retinoschisis |
What are the treatments for Juvenile retinoschisis ? | What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for childre... | Juvenile retinoschisis |
What are the symptoms of Distal myopathy with vocal cord weakness ? | What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Distal myopathy with vocal cord weakness |
What is (are) Freeman Sheldon syndrome ? | Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inh... | Freeman Sheldon syndrome |
What are the symptoms of Freeman Sheldon syndrome ? | What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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... | Freeman Sheldon syndrome |
How to diagnose Freeman Sheldon syndrome ? | How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosi... | Freeman Sheldon syndrome |
What is (are) Steatocystoma multiplex ? | Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be ca... | Steatocystoma multiplex |
What are the symptoms of Steatocystoma multiplex ? | What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as we... | Steatocystoma multiplex |
What causes Steatocystoma multiplex ? | What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is du... | Steatocystoma multiplex |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.