randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : exams and tests 
 How to diagnose Rotor syndrome ? 
 How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin. To confirm a disgnosis of Rotor syndrome, a person may have the following performed: testing for serum bilirubin concentration testing for bilirubin in the urine testing for hemolysis and liver enzyme activity (to rule out other conditions) cholescintigraphy (also called an HIDA scan) testing for total urinary porphyrins
This is a medical question of type : treatment 
 What are the treatments for Rotor syndrome ? 
 How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people. People with Rotor syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their health care providers regarding drugs that should be avoided.
This is a medical question of type : information 
 What is (are) PURA syndrome ? 
 PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. The reason for this is unknown. Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy. Early intervention is key.
This is a medical question of type : symptoms 
 What are the symptoms of Renal dysplasia diffuse cystic ? 
 What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. 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) Vesicoureteral reflux 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Cystic renal dysplasia - Hyperechogenic kidneys - Pulmonary hypoplasia - Renal dysplasia - Renal insufficiency - 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 Deafness enamel hypoplasia nail defects ? 
 What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. 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) Abnormal hair quantity 90% Abnormality of dental enamel 90% Abnormality of nail color 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Diabetes mellitus 90% Pili torti 90% Sensorineural hearing impairment 90% Taurodontia 90% Arrhythmia 50% Large hands 50% Primary amenorrhea 50% Round face 50% Short stature 50% Acanthosis nigricans 7.5% Camptodactyly of finger 7.5% Cerebral calcification 7.5% Delayed skeletal maturation 7.5% High anterior hairline 7.5% Ichthyosis 7.5% Muscle weakness 7.5% Peripheral neuropathy 7.5% Macular dystrophy 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Hypoplasia of dental enamel - Leukonychia - 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) Mitochondrial neurogastrointestinal encephalopathy syndrome ? 
 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern.
This is a medical question of type : symptoms 
 What are the symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome ? 
 What are the signs and symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial neurogastrointestinal encephalopathy 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) Abdominal pain - Areflexia - Autosomal recessive inheritance - Cachexia - Constipation - Death in early adulthood - Decreased activity of cytochrome C oxidase in muscle tissue - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Gastrointestinal dysmotility - Gastroparesis - Hypointensity of cerebral white matter on MRI - Intermittent diarrhea - Lactic acidosis - Leukoencephalopathy - Malabsorption - Malnutrition - Mitochondrial myopathy - Multiple mitochondrial DNA deletions - Progressive - Progressive external ophthalmoplegia - Ptosis - Ragged-red muscle fibers - Sensorineural hearing impairment - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vomiting - 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 : exams and tests 
 How to diagnose Mitochondrial neurogastrointestinal encephalopathy syndrome ? 
 How might mitochondrial neurogastrointestinal encephalopathy syndrome be diagnosed? The clinical diagnosis of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is based on the presence of severe gastrointestinal dysmotility (when the muscles and nerves of the digestive system do not move food through the digestive tract efficiently), cachexia (wasting away of muscle and fat tissue), ptosis, external ophthalmoplegia (weakness in the muscles that control eye movement), sensorimotor neuropathy, asymptomatic leukoencephalopathy (observed on brain MRI), and a family history consistent with autosomal recessive inheritance. Direct evidence of MNGIE syndrome can be provided by one of the following:  A blood test showing an increase in plasma thymidine concentration (greater than 3 mol/L) and an increase in plasma deoxyuridine concentration (greater than 5 mol/L). This is sufficient to make the diagnosis of MNGIE disease. Thymidine phosphorylase enzyme activity in leukocytes (white blood cells) less than 10% of the control mean. Genetic testing of TYMP, the gene for thymidine phosphorylase (the enzyme deficient in individuals with MNGIE syndrome), detects mutations in approximately all of affected individuals.
This is a medical question of type : treatment 
 What are the treatments for Mitochondrial neurogastrointestinal encephalopathy syndrome ? 
 How might mitochondrial neurogastrointestinal encephalopathy syndrome be treated? References John M Shoffner. Mitochondrial Neurogastrointestinal Encephalopathy Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1179/. Accessed 3/27/2011.
This is a medical question of type : information 
 What is (are) Catecholaminergic polymorphic ventricular tachycardia ? 
 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age.  If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT.  An Implantable Cardioverter Defibrillator (ICD) may also be needed.
This is a medical question of type : symptoms 
 What are the symptoms of Catecholaminergic polymorphic ventricular tachycardia ? 
 What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic ventricular tachycardia. 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) Vertigo 50% Sudden cardiac death 7.5% Autosomal dominant inheritance - Seizures - Sudden death - Syncope - Ventricular tachycardia - 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 : treatment 
 What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ? 
 Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We recommend that you speak with your healthcare provider regarding your treatment options.
This is a medical question of type : information 
 What is (are) Nonspherocytic hemolytic anemia due to hexokinase deficiency ? 
 Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.
This is a medical question of type : symptoms 
 What are the symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency ? 
 What are the signs and symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency? Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin.. However, the anemia associated with hexokinase deficiency is generally more severe. There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Nonspherocytic hemolytic anemia due to hexokinase 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Congenital onset - Hyperbilirubinemia - Jaundice - Nonspherocytic hemolytic anemia - Normochromic anemia - Normocytic anemia - Reticulocytosis - Splenomegaly - 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 Nonspherocytic hemolytic anemia due to hexokinase deficiency ? 
 What causes nonspherocytic hemolytic anemia due to hexokinase deficiency? Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase. This enzyme plays an important role in the chemical processes involved in the breakdown of sugar molecules (glycolysis). Red blood cells depend on this process for energy; if an enzyme is defective in any one of the stages, the red blood cell cannot function properly and hemolysis takes place. When red blood cells cannot be replaced faster than they destroy themselves, anemia results.
This is a medical question of type : inheritance 
 Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited ? 
 How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The parents of an individual with an autosomal recessive condition each have one mutated copy of the gene in each cell and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to be unaffected and have 2 normal copies of the gene.
This is a medical question of type : treatment 
 What are the treatments for Nonspherocytic hemolytic anemia due to hexokinase deficiency ? 
 How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated? When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified.
This is a medical question of type : symptoms 
 What are the symptoms of Boomerang dysplasia ? 
 What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral ossification 90% Abnormality of bone mineral density 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the tibia 90% Limb undergrowth 90% Narrow chest 90% Abnormality of the femur 50% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Finger syndactyly 50% Hydrops fetalis 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the ulna 7.5% Absent radius - Autosomal dominant inheritance - Fibular aplasia - Hypoplastic iliac body - Hypoplastic nasal septum - Neonatal death - Severe short stature - Underdeveloped nasal alae - Wide nasal bridge - 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 Medium-chain 3-ketoacyl-coa thiolase deficiency ? 
 What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased liver function - Dehydration - Metabolic acidosis - Myoglobinuria - Neonatal death - Rhabdomyolysis - Vomiting - 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.