Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What is (are) Parkes Weber syndrome ? | Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arterio... | |
What are the symptoms of Parkes Weber syndrome ? | What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb... | |
What are the treatments for Parkes Weber syndrome ? | How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surg... | |
What are the symptoms of Transaldolase deficiency ? | What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase 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 Med... | |
What are the symptoms of Cervical hypertrichosis peripheral neuropathy ? | What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What is (are) Dihydropteridine reductase deficiency ? | Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is ... | |
What are the symptoms of Dihydropteridine reductase deficiency ? | What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Spondyloepiphyseal dysplasia Maroteaux type ? | Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findin... | |
What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Progeroid syndrome, Penttinen type ? | What are the signs and symptoms of Progeroid syndrome, Penttinen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome, Penttinen type. 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 Patterned dystrophy of retinal pigment epithelium ? | What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. If the information is available, the table below includes how often the symptom is seen in people wi... | |
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... | |
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... | |
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... | |
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. | |
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... | |
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... | |
What is (are) Non-A-E hepatitis ? | Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen,... | |
What is (are) Hemochromatosis type 4 ? | Hemochromatosis type 4 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. Hereditary hemochr... | |
What are the symptoms of Hemochromatosis type 4 ? | What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis 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... | |
What are the symptoms of Porokeratosis, disseminated superficial actinic 1 ? | What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 1. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What is (are) Microhydranencephaly ? | Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocep... | |
What are the symptoms of Microhydranencephaly ? | What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging stu... | |
What causes Microhydranencephaly ? | What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition. | |
Is Microhydranencephaly inherited ? | Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in b... | |
How to diagnose Microhydranencephaly ? | How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and... | |
What causes Primary melanoma of the central nervous system ? | What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inheri... | |
What are the symptoms of Normophosphatemic familial tumoral calcinosis ? | What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What are the symptoms of Pulmonary edema of mountaineers ? | What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. 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 Aplasia cutis congenita intestinal lymphangiectasia ? | What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in peopl... | |
What are the symptoms of Thakker-Donnai syndrome ? | What are the signs and symptoms of Thakker-Donnai syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thakker-Donnai syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What is (are) Spinocerebellar ataxia 13 ? | Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (... | |
What are the symptoms of Spinocerebellar ataxia 13 ? | What are the signs and symptoms of Spinocerebellar ataxia 13? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 13. 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) Talipes equinovarus ? | Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the... | |
What are the symptoms of Talipes equinovarus ? | What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. 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 are the symptoms of Sulfite oxidase deficiency ? | What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase 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... | |
What are the symptoms of Isolated anterior cervical hypertrichosis ? | What are the signs and symptoms of Isolated anterior cervical hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated anterior cervical hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Lattice corneal dystrophy type 3A ? | Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is ... | |
What are the symptoms of Lattice corneal dystrophy type 3A ? | What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Ataxia - hypogonadism - choroidal dystrophy ? | What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Inflammatory linear verrucous epidermal nevus ? | Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to ear... | |
What are the symptoms of Chronic myeloid leukemia ? | What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid 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 MedlinePlus Med... | |
What is (are) Congenital short femur ? | Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surg... | |
What is (are) Crusted scabies ? | Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mite... | |
What is (are) Refsum disease, infantile form ? | Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of ... | |
What are the symptoms of Refsum disease, infantile form ? | What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What are the symptoms of Premature ovarian failure, familial ? | What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. 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) Cherubism ? | Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the... | |
What are the symptoms of Cherubism ? | What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the che... | |
What causes Cherubism ? | How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown. | |
Is Cherubism inherited ? | If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can stil... | |
What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ? | What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Hypohidrotic ectodermal dysplasia ? | Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant mann... | |
How to diagnose Hypohidrotic ectodermal dysplasia ? | Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm t... | |
What are the treatments for Hypohidrotic ectodermal dysplasia ? | How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal... | |
What is (are) Osteopetrosis autosomal recessive 5 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | |
What are the symptoms of Osteopetrosis autosomal recessive 5 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What are the symptoms of 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 ... | |
What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ? | What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the i... | |
What are the symptoms of Paroxysmal cold hemoglobinuria ? | What are the signs and symptoms of Paroxysmal cold hemoglobinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal cold hemoglobinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Primary central nervous system lymphoma ? | Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and sym... | |
What is (are) Eosinophilic fasciitis ? | Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The... | |
What are the symptoms of Eosinophilic fasciitis ? | What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | |
What are the treatments for Eosinophilic fasciitis ? | How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocortic... | |
What is (are) Occipital horn syndrome ? | Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to ... | |
What are the symptoms of Occipital horn syndrome ? | What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
How to diagnose Occipital horn syndrome ? | Is genetic testing available for occipital horn syndrome? | |
What are the symptoms of Tremor hereditary essential, 2 ? | What are the signs and symptoms of Tremor hereditary essential, 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremor hereditary essential, 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 Med... | |
What are the symptoms of Uropathy distal obstructive polydactyly ? | What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What is (are) Embryonal carcinoma ? | Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ ce... | |
What is (are) Isovaleric acidemia ? | Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding... | |
What are the symptoms of Isovaleric acidemia ? | What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of ... | |
What causes Isovaleric acidemia ? | What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a ... | |
Is Isovaleric acidemia inherited ? | How is isovaleric acidemia inherited? Isovaleric acidemia 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, but they typically do not show signs and ... | |
What are the treatments for Isovaleric acidemia ? | How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet a... | |
What are the symptoms of Hypomagnesemia 2, renal ? | What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What are the symptoms of Wiedemann Oldigs Oppermann syndrome ? | What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What are the symptoms of Multiple epiphyseal dysplasia 2 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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 M... | |
What is (are) Mixed connective tissue disease ? | Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect ... | |
What are the symptoms of Mixed connective tissue disease ? | What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. A condition called Raynaud's phenomenon... | |
What causes Mixed connective tissue disease ? | What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune s... | |
Is Mixed connective tissue disease inherited ? | Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of... | |
How to diagnose Mixed connective tissue disease ? | How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD. | |
What are the treatments for Mixed connective tissue disease ? | How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation an... | |
What is (are) Thalassemia ? | Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, a... | |
What are the symptoms of Thalassemia ? | What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to mode... | |
What causes Thalassemia ? | What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provid... | |
Is Thalassemia inherited ? | How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. The parent... | |
How to diagnose Thalassemia ? | Is genetic testing available for thalassemia? Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centrali... | |
What are the treatments for Thalassemia ? | How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron fr... | |
What are the symptoms of Banki syndrome ? | What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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... | |
What are the symptoms of Symmetrical thalamic calcifications ? | What are the signs and symptoms of Symmetrical thalamic calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Symmetrical thalamic calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What are the symptoms of Vestibulocochlear dysfunction, progressive ? | What are the signs and symptoms of Vestibulocochlear dysfunction, progressive? The Human Phenotype Ontology provides the following list of signs and symptoms for Vestibulocochlear dysfunction, progressive. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Pseudoachondroplasia ? | Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudo... | |
What are the symptoms of Pseudoachondroplasia ? | What are the signs and symptoms of Pseudoachondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. 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... | |
Is Pseudoachondroplasia inherited ? | How is pseudoachondroplasia inherited? Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new muta... | |
What is (are) Primary lateral sclerosis ? | Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance... | |
What are the symptoms of Primary lateral sclerosis ? | What are the signs and symptoms of Primary lateral sclerosis? Primary lateral sclerosis (PLS) causes weakness in the voluntary muscles, such as those used to control the legs, arms and tongue. PLS can happen at any age, but it is more common after age 40. A subtype of PLS, known as juvenile primary lateral sclerosis, b... | |
How to diagnose Primary lateral sclerosis ? | How is primary lateral sclerosis diagnosed? There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). Because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS), several tests are done to rule out other d... | |
What is (are) Multiple mitochondrial dysfunctions syndrome ? | Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, fai... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.