randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of Oculo skeletal renal syndrome ? 
 What are the signs and symptoms of Oculo skeletal renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo skeletal renal 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 pelvic girdle bone morphology 90% Abnormality of retinal pigmentation 90% Abnormality of the humeroulnar joint 90% Abnormality of the metacarpal bones 90% Abnormality of the renal tubule 90% Abnormality of the toenails 90% Astigmatism 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Deviation of finger 90% Dolichocephaly 90% Hypertension 90% Madelung deformity 90% Micromelia 90% Myopia 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Upslanted palpebral fissure 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) Lafora disease ? 
 Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
This is a medical question of type : symptoms 
 What are the symptoms of Lafora disease ? 
 What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood. The most common feature of Lafora disease is recurrent seizures. Several different types of seizures have been reported including generalized tonic-clonic seizures, occipital seizures (which can cause temporary blindness and visual hallucinations) and myoclonic seizures. These seizures are considered "progressive" because they generally become worse and more difficult to treat over time. With the onset of seizures, people with Lafora disease often begin showing signs of cognitive decline. This may include behavioral changes, depression, confusion, ataxia (difficulty controlling muscles), dysarthria, and eventually, dementia. By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care. The Human Phenotype Ontology provides the following list of signs and symptoms for Lafora 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 metabolism/homeostasis - Absence seizures - Apraxia - Autosomal recessive inheritance - Bilateral convulsive seizures - Cutaneous photosensitivity - Dementia - Gait disturbance - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Hepatic failure - Heterogeneous - Myoclonus - Progressive neurologic deterioration - Psychosis - Rapidly progressive - Visual auras - Visual hallucinations - 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 : causes 
 What causes Lafora disease ? 
 What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one important role is to help regulate the production of a complex sugar called glycogen (an important source of stored energy in the body). Mutations in the EPM2A gene or the NHLRC1 gene interfere with the production of functional proteins, leading to the formation of Lafora bodies (clumps of abnormal glycogen that cannot be broken down and used for fuel) within cells. A build up of Lafora bodies appears to be especially toxic to the cells of the nervous system and leads to the signs and symptoms of Lafora disease.
This is a medical question of type : inheritance 
 Is Lafora disease inherited ? 
 Is Lafora disease inherited? Lafora disease 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. 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 : exams and tests 
 How to diagnose Lafora disease ? 
 How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to detect "Lafora bodies" (clumps of abnormal glycogen that cannot be broken down and used for fuel) which are found in most people with the condition. Genetic testing for changes (mutations) in either the EPM2A gene or the NHLRC1 gene may be used to confirm the diagnosis in some cases. An EEG and an MRI of the brain are generally recommended in all people with recurrent seizures and are useful in investigating other conditions in the differential diagnosis. GeneReview's Web site offers more specific information regarding the diagnosis of Lafora disease. Please click on the link to access this resource.
This is a medical question of type : treatment 
 What are the treatments for Lafora disease ? 
 How might Lafora disease be treated? Unfortunately, there is currently no cure for Lafora disease or way to slow the progression of the condition. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to managed generalized seizures. In the advanced stages of the condition, a gastrostomy tube may be placed for feeding. Drugs that are known to worsen myoclonus (i.e. phenytoin) are generally avoided. GeneReview's Web site offers more specific information regarding the treatment and management of Lafora disease. Please click on the link to access this resource.
This is a medical question of type : information 
 What is (are) Granulomatous Amebic Encephalitis ? 
 Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.
This is a medical question of type : information 
 What is (are) Hypocomplementemic urticarial vasculitis syndrome ? 
 Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with this condition are likely to have systemic involvement, including angioedema, arthralgias, pulmonary disease, abdominal or chest pain, fever, renal disease, and episcleritis. Hypocomplementemic urticarial vasculitis is thought be an autoimmune response involving a specific region of complement 1 (C1). It can present as or precede a syndrome that includes obstructive pulmonary disease , uveitis, systemic lupus erythematous (SLE), Sjgren's syndrome, or cryoglobulinemia (which is closely linked with hepatitis B or hepatitis C virus infection). Some cases of hypocomplementemic urticarial vasculitis respond to therapies commonly used for the treatment of SLE, including low-dose prednisone, hydroxychloroquine, dapsone, or other immunomodulatory agents.
This is a medical question of type : exams and tests 
 How to diagnose Hypocomplementemic urticarial vasculitis syndrome ? 
 How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected).  People with HUV syndrome have hives (urticaria) for at least six months and low levels of proteins (complement) in the blood. Complement levels can be determined through a blood test. Click here to visit the American Association for Clinical Chemistry's Web site Lab Tests Online to learn more about this test.  In addition to these major criteria, people with HUV syndrome must also have at least two of the following minor criteria: Inflammation in the small veins of the dermis (diagnosed by biopsy) Joint pain or arthritis Mild glomerulonephritis Inflammation in the eye (uvea or episclera) Recurrent abdominal pain The presence of anti-C1q antibodies (this test is not widely available) Some people have urticarial vasculitis and low complement levels (hypocomplementemia), but do not meet diagnostic criteria for HUV syndrome. These individuals may be diagnosed as having HUV (where symptoms are limited to the skin), versus HUV syndrome. Differential diagnoses for HUV syndrome include, Schnitzler's syndrome, Cogan's syndrome, and Muckle-Wells syndrome.
This is a medical question of type : information 
 What is (are) Hemochromatosis ? 
 Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.
This is a medical question of type : symptoms 
 What are the symptoms of Hemochromatosis ? 
 What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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 Hemochromatosis ? 
 What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAMP gene type 3 hemochromatosis - the TFR2 gene type 4 hemochromatosis - the SLC40A1 gene These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs. Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions. The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.
This is a medical question of type : inheritance 
 Is Hemochromatosis inherited ? 
 Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 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. 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, and a 25% chance to be unaffected and not be a carrier. Type 4 is inherited in an autosomal dominant manner. This means having only one mutated copy of the responsible gene in each cell is enough to cause the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. In most cases, a person with type 4 hemochromatosis has one affected parent. Acquired hemochromatosis is not inherited. Neonatal hemochromatosis is also not inherited, but it does appear to be familial. A woman with an affected child has approximately an 80% chance to have another affected child. However, this likelihood of recurrence is not explained by normal inheritance patterns. The underlying cause of this type is not fully understood.
This is a medical question of type : symptoms 
 What are the symptoms of Retinopathy pigmentary mental retardation ? 
 What are the signs and symptoms of Retinopathy pigmentary mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinopathy pigmentary mental retardation. 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) Arachnodactyly - Autosomal recessive inheritance - Cataract - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Joint hypermobility - Microcephaly - Moderately short stature - Myopia - Narrow palm - Pigmentary retinal degeneration - Reduced visual acuity - Retinopathy - Scoliosis - Truncal obesity - Visual impairment - 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 Polyneuropathy mental retardation acromicria premature menopause ? 
 What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. 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) Brachydactyly syndrome 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Micromelia 90% Secondary amenorrhea 90% Short stature 90% Skeletal muscle atrophy 90% Camptodactyly of finger 50% Truncal obesity 50% Ulnar deviation of finger 50% Abnormality of pelvic girdle bone morphology 7.5% Arrhythmia 7.5% Furrowed tongue 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.