randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : exams and tests 
 How to diagnose Multiple endocrine neoplasia type 1 ? 
 Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is multiple endocrine neoplasia, type 1 diagnosed? A diagnosis of multiple endocrine neoplasia, type 1 (MEN1) is based on the presence of two of the following endocrine tumors: parathyroid tumors; pituitary tumors; and/or stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors. People with only one of the tumors may also receive a diagnosis of MEN1 if they have other family members with the condition. Identification of a change (mutation) in the MEN1 gene can be used to confirm the diagnosis. In addition to a complete physical exam and medical history, laboratory tests that evaluate the levels of certain hormones in the blood or urine are often used detect the different types of tumors found in MEN1. Imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), and/or endoscopic ultrasound may be recommended to confirm the location and size of the tumors. Some people may also need a biopsy of the tumor to confirm the diagnosis.
This is a medical question of type : treatment 
 What are the treatments for Multiple endocrine neoplasia type 1 ? 
 How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life. Recommended screening includes specific types of imaging studies every 3-5 years: Head magnetic resonance imaging (MRI scan) begining at age 5. Abdominal computed tomography (CT scan) or abdominal MRI scan beginning at age 20. Annual blood tests are also recommended, which evaluate the levels of certain substances that can be elevated if an MEN1-associated tumor is present: Prolactin concentrations, which can be used to screen for pituitary tumors, are measured beginning at age 5. Calcium concentrations, which can be used to screen for parathyroid tumors, are measured beginning at age 8. Gastrin concentrations, which can be used to screen for gastrinomas (a specific type of gastro-entero-pancreatic tract tumor) are measured beginning at age 20. When a tumor is detected through screening, the best treatment options depend on many factors, including the size, location, and type of tumor; and whether or not the tumor is "functional" (releasing hormones). Many tumors are treated with surgery. If a tumor is functional, removal of the affected endocrine gland often resolves health problems that may be present as a result of elevated hormones. In some cases, functional tumors can be treated with medications that block the function or lower the levels of the overproduced hormone. Chemotherapy or radiation therapy may also be used to to shrink or destroy tumors.
This is a medical question of type : information 
 What is (are) Beare-Stevenson cutis gyrata syndrome ? 
 Beare-Stevenson  cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.
This is a medical question of type : symptoms 
 What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? 
 What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata 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) Abnormality of the pancreas 90% Acanthosis nigricans 90% Aplasia/Hypoplasia of the earlobes 90% Choanal atresia 90% Depressed nasal bridge 90% Dolichocephaly 90% Hearing abnormality 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Melanocytic nevus 90% Palmoplantar keratoderma 90% Proptosis 90% Ptosis 90% Reduced number of teeth 90% Respiratory insufficiency 90% Visceral angiomatosis 90% Bifid scrotum 50% Craniosynostosis 50% Abnormality of the nail 7.5% Anteverted nares 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Hypertension 7.5% Narrow mouth 7.5% Optic atrophy 7.5% Thickened helices 7.5% Umbilical hernia 7.5% Agenesis of corpus callosum - Anteriorly placed anus - Autosomal dominant inheritance - Choanal stenosis - Cloverleaf skull - Hypoplasia of midface - Limited elbow extension - Low-set, posteriorly rotated ears - Narrow palate - Palmoplantar cutis laxa - Preauricular skin furrow - Prominent scrotal raphe - Respiratory distress - Small nail - 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 Retinal cone dystrophy 1 ? 
 What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 1. 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 electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% Autosomal dominant inheritance - Bull's eye maculopathy - Diffuse retinal cone degeneration - Progressive visual loss - 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 Johnston Aarons Schelley syndrome ? 
 What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% 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) Cerulean cataract ? 
 Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia. In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress.
This is a medical question of type : symptoms 
 What are the symptoms of Cerulean cataract ? 
 What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. 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) Cerulean cataract 100% Macular hypoplasia 5% Retinal detachment 5% Autosomal dominant inheritance - Congenital cataract - Cortical pulverulent cataract - Iris coloboma - Microcornea - Sutural cataract - Visual loss - 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 Cerulean cataract ? 
 How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.
This is a medical question of type : symptoms 
 What are the symptoms of Pancreatic cancer, childhood ? 
 What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. 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) Neoplasm of the pancreas - 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) Ehlers-Danlos syndrome, progeroid type ? 
 Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face; these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children. The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern.
This is a medical question of type : causes 
 What causes Ehlers-Danlos syndrome, progeroid type ? 
 What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue. Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type.
This is a medical question of type : inheritance 
 Is Ehlers-Danlos syndrome, progeroid type inherited ? 
 How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. One copy is inherited from each parent. If an individual has only one non-functional B4GALT7 gene (such as each parent), he or she is a "carrier". Carriers do not typically show any signs or symptoms of a recessive condition. When two carriers for a recessive condition have children, with each pregnancy there is a 25% (1 in 4) risk for the child to be affected, a 50%  (1 in 2) risk for the child to be a carrier (like each parent) and a 25% risk that the child will be unaffected and also not be a carrier. An individual with a recessive condition will generally have unaffected children, except in the rare circumstance where his or her partner is a carrier of a nonfunctional B4GALT7 gene.
This is a medical question of type : treatment 
 What are the treatments for Ehlers-Danlos syndrome, progeroid type ? 
 How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. Affected individuals with joint pain might benefit from anti-inflammatory drugs. Lifestyle changes or precautions during exercise or intense physical activity may be advised to reduce the chance of accidents to the skin and bone. It is recommended that affected individuals discuss treatment options with their healthcare provider.
This is a medical question of type : information 
 What is (are) Gray platelet syndrome ? 
 Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner.
This is a medical question of type : symptoms 
 What are the symptoms of Gray platelet syndrome ? 
 What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Gray platelet 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) Abnormality of coagulation 90% Bruising susceptibility 90% Thrombocytopenia 90% Abnormality of the menstrual cycle 50% Epistaxis 50% Myelodysplasia 50% Splenomegaly 50% Autosomal dominant inheritance - Autosomal recessive inheritance - Impaired collagen-induced platelet aggregation - Impaired thrombin-induced platelet aggregation - Menorrhagia - Myelofibrosis - Progressive - Prolonged bleeding time - Reduced quantity of Von Willebrand factor - Reduced von Willebrand factor activity - 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 Gray platelet syndrome ? 
 How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. Prognosis is generally good early in life when thrombocytopenia is mild. Those with platelets counts less than 30,000/microliter are at risk for life-threatening bleeding.
This is a medical question of type : symptoms 
 What are the symptoms of Episodic ataxia with nystagmus ? 
 What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. 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 - Cerebellar vermis atrophy - Diplopia - Downbeat nystagmus - Dysarthria - Dystonia - Episodic ataxia - Gaze-evoked nystagmus - Incomplete penetrance - Migraine - Muscle weakness - Myotonia - Paresthesia - Progressive cerebellar ataxia - Saccadic smooth pursuit - Tinnitus - Vertigo - Vestibular dysfunction - 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.