text
stringlengths
385
1.2k
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome 3 ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome 3 ? ### Response: What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome 3 ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Costocoracoid ligament congenitally short ? ### Response: What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 5q deletion ? ### Response: Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wilson-Turner syndrome ? ### Response: What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple epiphyseal dysplasia ? ### Response: Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple epiphyseal dysplasia ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: Is Multiple epiphyseal dysplasia inherited ? ### Response: How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic inflammatory myopathy ? ### Response: Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic inflammatory myopathy ? ### Response: What are the signs and symptoms of Idiopathic inflammatory myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic inflammatory myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Split hand foot malformation ? ### Response: Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Split hand foot malformation ? ### Response: What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What causes Split hand foot malformation ? ### Response: What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital dyserythropoietic anemia type 2 ? ### Response: Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital dyserythropoietic anemia type 2 ? ### Response: What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital dyserythropoietic anemia type 2 ? ### Response: How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhabdomyosarcoma alveolar ? ### Response: What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital contractural arachnodactyly ? ### Response: What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils.
Below is an instruction from Human. Write a response. ### Instruction: Is Congenital contractural arachnodactyly inherited ? ### Response: How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Congenital contractural arachnodactyly ? ### Response: How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pellagra like syndrome ? ### Response: What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fraser like syndrome ? ### Response: What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Geroderma osteodysplastica ? ### Response: Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Geroderma osteodysplastica ? ### Response: What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? ### Response: What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency ? ### Response: What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 11 ? ### Response: What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation ? ### Response: What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth retardation.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Radio-ulnar synostosis type 2 ? ### Response: What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pulmonary vein stenosis ? ### Response: Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pulmonary vein stenosis ? ### Response: What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Kuskokwim disease ? ### Response: Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kuskokwim disease ? ### Response: What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Kuskokwim disease ? ### Response: How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beta-thalassemia ? ### Response: Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beta-thalassemia ? ### Response: What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: Is Beta-thalassemia inherited ? ### Response: How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leucine-sensitive hypoglycemia of infancy ? ### Response: What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Logopenic progressive aphasia ? ### Response: Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Logopenic progressive aphasia ? ### Response: How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Duodenal atresia ? ### Response: What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyotonia congenita ? ### Response: What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lymphedema-distichiasis syndrome ? ### Response: Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lymphedema-distichiasis syndrome ? ### Response: What are the signs and symptoms of Lymphedema-distichiasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema-distichiasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuropathy, congenital, with arthrogryposis multiplex ? ### Response: What are the signs and symptoms of Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemophilia B ? ### Response: 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.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemophilia B ? ### Response: 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.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ? ### Response: What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kozlowski Celermajer Tink syndrome ? ### Response: 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.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 34 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myofibrillar myopathy ? ### Response: Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myofibrillar myopathy ? ### Response: What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyruvate decarboxylase deficiency ? ### Response: What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rippling muscle disease, 1 ? ### Response: What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 2q deletion ? ### Response: Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Herrmann syndrome ? ### Response: What are the signs and symptoms of Herrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Herrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Richieri Costa Da Silva syndrome ? ### Response: What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myocarditis ? ### Response: Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Abdominal aortic aneurysm ? ### Response: Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Abdominal aortic aneurysm ? ### Response: What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: Is Abdominal aortic aneurysm inherited ? ### Response: Is abdominal aortic aneurysm inherited? Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb-girdle muscular dystrophy type 2A ? ### Response: Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb-girdle muscular dystrophy type 2A ? ### Response: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Porokeratosis of Mibelli ? ### Response: Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Porokeratosis of Mibelli ? ### Response: What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Porokeratosis of Mibelli ? ### Response: How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mantle cell lymphoma ? ### Response: Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mantle cell lymphoma ? ### Response: What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss.
Below is an instruction from Human. Write a response. ### Instruction: What causes Mantle cell lymphoma ? ### Response: What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation.
Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mantle cell lymphoma ? ### Response: How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mantle cell lymphoma ? ### Response: How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Linear porokeratosis ? ### Response: Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Linear porokeratosis ? ### Response: How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of the characteristic skin markings.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 1q21.1 microdeletion syndrome ? ### Response: What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chudley-Mccullough syndrome ? ### Response: What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Erythema nodosum, idiopathic ? ### Response: Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Deafness, X-linked 2 ? ### Response: What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epithelial basement membrane corneal dystrophy ? ### Response: 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.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epithelial basement membrane corneal dystrophy ? ### Response: 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 moderate to severe pain lasting as long as several days.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Epithelial basement membrane corneal dystrophy ? ### Response: 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.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Histidinemia ? ### Response: What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Basilar migraine ? ### Response: Basilar migraine is a type of migraine headache with aura that is associated with bilateral (on both sides) pain at the back of the head. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming and may include dizziness and vertigo, slurred speech, ataxia, tinnitus, visual changes, and loss of balance.
Below is an instruction from Human. Write a response. ### Instruction: What causes Basilar migraine ? ### Response: What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors.
Below is an instruction from Human. Write a response. ### Instruction: Is Basilar migraine inherited ? ### Response: Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner.
Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Basilar migraine ? ### Response: How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Basilar migraine ? ### Response: How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mitochondrial DNA-associated Leigh syndrome ? ### Response: Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mitochondrial DNA-associated Leigh syndrome ? ### Response: What are the signs and symptoms of Mitochondrial DNA-associated Leigh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial DNA-associated Leigh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schisis association ? ### Response: What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Central core disease ? ### Response: Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Central core disease ? ### Response: What are the signs and symptoms of Central core disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Central core disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Central core disease ? ### Response: How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.
Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Central core disease ? ### Response: What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb dystonia ? ### Response: Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed.
Below is an instruction from Human. Write a response. ### Instruction: What is (are) Currarino triad ? ### Response: Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Currarino triad ? ### Response: What are the signs and symptoms of Currarino triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Currarino triad. If the information is available, the table below includes how often the symptom is seen in people with this condition.
Below is an instruction from Human. Write a response. ### Instruction: What causes Currarino triad ? ### Response: What causes Currarino triad? Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein.
Below is an instruction from Human. Write a response. ### Instruction: Is Currarino triad inherited ? ### Response: How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent.
Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lubinsky syndrome ? ### Response: What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.