randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of X-linked intellectual disability, Najm type ? 
 What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm type. 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) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Abnormality of the nose 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Gait disturbance 50% Hypertelorism 50% Long philtrum 50% Macrotia 50% Microcephaly 50% Myopia 50% Nystagmus 50% Seizures 50% Sensorineural hearing impairment 50% Strabismus 50% Visual impairment 50% Chorioretinal coloboma 7.5% Hypertonia 7.5% Macrogyria 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Optic disc pallor 7.5% Optic nerve hypoplasia 7.5% Scoliosis 7.5% Absent speech - Broad nasal tip - Cerebellar hypoplasia - Decreased body weight - Dilated fourth ventricle - Epicanthus - Generalized hypotonia - High palate - Hyperreflexia - Hypohidrosis - Intellectual disability, moderate - Large eyes - Muscle weakness - Muscular hypotonia of the trunk - Oval face - Postnatal growth retardation - Prominent nasal bridge - Short nose - Short stature - Spasticity - Wide nasal bridge - X-linked dominant 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 Coenzyme Q10 deficiency ? 
 What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 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) Anemia - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Dysarthria - Elevated serum creatine phosphokinase - Encephalopathy - Glomerulosclerosis - Hepatic failure - Hypergonadotropic hypogonadism - Hypertrophic cardiomyopathy - Intellectual disability - Lactic acidosis - Motor delay - Nephrotic syndrome - Nystagmus - Onset - Pancytopenia - Phenotypic variability - Postural instability - Progressive muscle weakness - Ragged-red muscle fibers - Recurrent myoglobinuria - Rod-cone dystrophy - Scanning speech - Seizures - Sensorineural hearing impairment - Specific learning disability - 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 Charcot-Marie-Tooth disease type 2B1 ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B1? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B1. 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 - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hyporeflexia - Kyphoscoliosis - Onion bulb formation - Onset - Peripheral axonal atrophy - Pes cavus - Steppage gait - Upper limb muscle weakness - 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 Upington disease ? 
 What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington 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 femur 90% Exostoses 90% Limitation of joint mobility 90% Multiple enchondromatosis 90% Arthralgia - Arthralgia of the hip - Autosomal dominant inheritance - Broad femoral neck - Flattened femoral head - 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) Kawasaki syndrome ? 
 Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. Sometimes the condition affects the coronary arteries (which carry oxygen-rich blood to the heart). This can lead to serious heart problems. Kawasaki syndrome occurs most often in people of Asian and Pacific Island descent. The cause of Kawasaki disease is unknown. An infection along with genetic factors may be involved. Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting.
This is a medical question of type : symptoms 
 What are the symptoms of Kawasaki syndrome ? 
 What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki 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) Cheilitis 90% Glossitis 90% Inflammatory abnormality of the eye 90% Lymphadenopathy 90% Proteinuria 90% Recurrent pharyngitis 90% Skin rash 90% Vasculitis 90% Abdominal pain 50% Abnormality of nail color 50% Abnormality of temperature regulation 50% Abnormality of the heart valves 50% Abnormality of the pericardium 50% Arthritis 50% Diarrhea 50% Dry skin 50% Edema 50% Leukocytosis 50% Abnormality of the myocardium 7.5% Arrhythmia 7.5% Arthralgia 7.5% Aseptic leukocyturia 7.5% Behavioral abnormality 7.5% Biliary tract abnormality 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Dilatation of the ascending aorta 7.5% Meningitis 7.5% Migraine 7.5% Nausea and vomiting 7.5% Ptosis 7.5% Restrictive lung disease 7.5% 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 Kawasaki syndrome ? 
 What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder. What causes Kawasaki syndrome? The cause of Kawasaki syndrome isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics is not well understood. Kawasaki syndrome is not contagious; it can't be passed from one child to another.
This is a medical question of type : inheritance 
 Is Kawasaki syndrome inherited ? 
 Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown.
This is a medical question of type : treatment 
 What are the treatments for Kawasaki syndrome ? 
 How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. We found limited information on the management of Kawasaki disease specifically in adults, however you may find the following articles to be helpful: Dauphin C. et al., Kawasaki disease is also a disease of adults: report of six cases. Arch Mal Coeur Vaiss [serial online]. 2007;100(5):439-447. Sve P, Stankovic K, Smail A, Durand DV, Marchand G, and Broussolle C. Adult Kawasaki disease: report of two cases and literature review. Semin Arthritis Rheum. 2005;34(6):785-792. Sve P, Bui-Xuan C, Charhon A, and Broussolle C. Adult Kawasaki disease. Rev Med Interne [serial online]. 2003;24(9):577-584.In the article listed above by Dauphin C. et al. the authors describe that of the five adult patients with Kawasaki disease who were treated, all progressed favorably after a course of immunoglobulins.  In addition, in the article by Sve P. et al., the authors comment that 'although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease.'
This is a medical question of type : information 
 What is (are) GM1 gangliosidosis ? 
 GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
This is a medical question of type : causes 
 What causes GM1 gangliosidosis ? 
 What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain. Mutations in the GLB1 gene may lower or eliminate the activity of the -galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels.
This is a medical question of type : inheritance 
 Is GM1 gangliosidosis inherited ? 
 How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.
This is a medical question of type : exams and tests 
 How to diagnose GM1 gangliosidosis ? 
 Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results. However, enzyme activity may not be predictive of carrier status in relatives of affected people. Carrier testing for at-risk family members is done with molecular genetic testing, and is possible if the disease-causing mutations in the family are already known. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
This is a medical question of type : treatment 
 What are the treatments for GM1 gangliosidosis ? 
 How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open. Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.
This is a medical question of type : information 
 What is (are) GRACILE syndrome ? 
 GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the urine (aminoaciduria). They will also have problems with the flow of bile from the liver (cholestasis) and too much iron in their blood. Affected individuals arent typically born with unique physical features. Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment. GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern. The BCS1L gene provides instructions needed by the mitochondria in cells to help produce energy.
This is a medical question of type : symptoms 
 What are the symptoms of GRACILE syndrome ? 
 What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE 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 iron homeostasis 90% Abnormality of the renal tubule 90% Aminoaciduria 90% Cirrhosis 90% Hearing impairment 90% Hepatic steatosis 90% Abnormality of hair texture 50% Aminoaciduria 20/20 Cholestasis 19/20 Neonatal hypotonia 3/20 Chronic lactic acidosis - Increased serum ferritin - Increased serum iron - Increased serum pyruvate - Intrauterine growth retardation - 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.