randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of 3-Hydroxyisobutyric aciduria ? 
 What are the signs and symptoms of 3-Hydroxyisobutyric aciduria? The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include: Developmental delay Intellectual disability Failure to thrive Characteristic facial features including a long philtrum and small, low-set ears Unusually small head (microcephaly) Congenital brain abnormalities Nausea Diarrhea Dehydration Lethargy The severity of the condition can also vary significantly from person to person. Some affected people may only experience mild attacks of vomiting with normal development, while others experience failure to thrive with severe intellectual disability and early death. The Human Phenotype Ontology provides the following list of signs and symptoms for 3-Hydroxyisobutyric aciduria. 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 up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Abnormality of the outer ear 50% Long philtrum 50% Triangular face 50% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Intrauterine growth retardation 7.5% Microcephaly 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of neuronal migration - Autosomal recessive inheritance - Congenital intracerebral calcification - Episodic ketoacidosis - Failure to thrive - Lactic acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : causes 
 What causes 3-Hydroxyisobutyric aciduria ? 
 What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, which helps the body break down certain amino acids (the building blocks of protein) found in food. If this gene isn't working properly, the body is unable to break down the amino acids valine and thymine which leads to a build-up of toxic substances in the body and the many signs and symptoms of 3-hydroxyisobutyric aciduria.
This is a medical question of type : inheritance 
 Is 3-Hydroxyisobutyric aciduria inherited ? 
 Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
This is a medical question of type : treatment 
 What are the treatments for 3-Hydroxyisobutyric aciduria ? 
 How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success.
This is a medical question of type : information 
 What is (are) Kienbock's disease ? 
 Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. As the disease progresses, signs and symptoms may include a painful and/or swollen wrist; stiffness; decreased grip strength; tenderness directly over the bone; and pain or difficulty in turning the hand upward. The underlying cause of Kienbock's disease is unknown. Treatment aims to relieve the pressure on the bone and restore blood flow within the bone. Surgery may be recommended.
This is a medical question of type : symptoms 
 What are the symptoms of Kienbock's disease ? 
 What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. Rarely, the condition may occur in both hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Kienbock's 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 up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Arthralgia 90% Aseptic necrosis 90% Bone pain 90% Limitation of joint mobility 90% Osteoarthritis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : inheritance 
 Is Kienbock's disease inherited ? 
 Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition.
This is a medical question of type : treatment 
 What are the treatments for Kienbock's disease ? 
 What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation.
This is a medical question of type : information 
 What is (are) Tyrosinemia type 3 ? 
 Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.
This is a medical question of type : symptoms 
 What are the symptoms of Tyrosinemia type 3 ? 
 What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Abnormality of the liver - Autosomal recessive inheritance - Hypertyrosinemia - Intellectual disability, mild - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : information 
 What is (are) Neutral lipid storage disease with myopathy ? 
 Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern. There is currently no treatment to correct the underlying metabolic problem.
This is a medical question of type : symptoms 
 What are the symptoms of Neutral lipid storage disease with myopathy ? 
 What are the signs and symptoms of Neutral lipid storage disease with myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutral lipid storage disease with myopathy. 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 up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia 5% Cardiomyopathy 5% Diabetes mellitus 5% Hypertriglyceridemia 5% Neck muscle weakness 5% Sensorineural hearing impairment 5% Short stature 5% Adult onset - Autosomal recessive inheritance - Difficulty running - Difficulty walking - Easy fatigability - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Fasciculations - Gowers sign - Hepatic steatosis - Hepatomegaly - Increased muscle lipid content - Muscular hypotonia - Myalgia - Myopathy - Proximal muscle weakness - Slow progression - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : causes 
 What causes Neutral lipid storage disease with myopathy ? 
 What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.
This is a medical question of type : inheritance 
 Is Neutral lipid storage disease with myopathy inherited ? 
 How is neutral lipid storage disease with myopathy inherited? This condition 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 symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for Neutral lipid storage disease with myopathy ? 
 How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity. Additional studies into this therapy are needed.
This is a medical question of type : symptoms 
 What are the symptoms of Melanoma astrocytoma syndrome ? 
 What are the signs and symptoms of Melanoma astrocytoma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Melanoma astrocytoma 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Medulloblastoma 50% Meningioma 50% Astrocytoma - Autosomal dominant inheritance - Cutaneous melanoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : information 
 What is (are) Familial exudative vitreoretinopathy ? 
 Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
This is a medical question of type : inheritance 
 Is Familial exudative vitreoretinopathy inherited ? 
 How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
This is a medical question of type : treatment 
 What are the treatments for Familial exudative vitreoretinopathy ? 
 How might familial exudative vitreoretinopathy be treated? Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment.
This is a medical question of type : information 
 What is (are) X-linked sideroblastic anemia ? 
 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.
This is a medical question of type : symptoms 
 What are the symptoms of X-linked sideroblastic anemia ? 
 What are the signs and symptoms of X-linked sideroblastic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked sideroblastic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Abnormality of the cardiovascular system 7.5% Abnormality of the spleen 7.5% Irregular hyperpigmentation 7.5% Respiratory insufficiency 7.5% Type II diabetes mellitus 7.5% Hypochromic microcytic anemia - Macrocytic anemia - Sideroblastic anemia - Variable expressivity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : symptoms 
 What are the symptoms of Medulloblastoma ? 
 What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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 up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Medulloblastoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.