pandaresiddhi/test-small-dataset huggingface dataset:
Question: What are the symptoms of Brooke-Spiegler syndrome ?
Answer: What are the signs and symptoms of BrookeSpiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BrookeSpiegler 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) Adult onset  Autosomal dominant inheritance  Milia  Neoplasm  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.
Question: What causes Diabetic Neuropathies: The Nerve Damage of Diabetes ?
Answer: The causes are probably different for different types of diabetic neuropathy. Researchers are studying how prolonged exposure to high blood glucose causes nerve damage. Nerve damage is likely due to a combination of factors:  metabolic factors, such as high blood glucose, long duration of diabetes, abnormal blood fat levels, and possibly low levels of insulin  neurovascular factors, leading to damage to the blood vessels that carry oxygen and nutrients to nerves  autoimmune factors that cause inflammation in nerves  mechanical injury to nerves, such as carpal tunnel syndrome  inherited traits that increase susceptibility to nerve disease  lifestyle factors, such as smoking or alcohol use
Question: What is the outlook for Repetitive Motion Disorders ?
Answer: Most individuals with RMDs recover completely and can avoid reinjury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected area.
Question: What is (are) Microcephalic osteodysplastic primordial dwarfism type 1 ?
Answer: Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and postnatal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.
Question: What are the symptoms of Spastic paraplegia 16 ?
Answer: What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. 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) Babinski sign  Facial hypotonia  Hyperreflexia  Hypoplasia of the maxilla  Intellectual disability  Juvenile onset  Low frustration tolerance  Lower limb amyotrophy  Lower limb muscle weakness  Mood swings  Motor aphasia  Restlessness  Short distal phalanx of finger  Shuffling gait  Spastic paraplegia  Strabismus  Urinary bladder sphincter dysfunction  Urinary incontinence  Urinary urgency  Visual impairment  Xlinked recessive inheritance  The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
Answer: Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an Xlinked recessive manner. Treatment is based on the signs and symptoms present in each person.
Question: What are the treatments for Chronic Neutrophilic Leukemia ?
Answer: Treatment of chronic neutrophilic leukemia may include the following:  Donor bone marrow transplant.  Chemotherapy.  Biologic therapy using interferon alfa.  A clinical trial of a new treatment. Check the list of NCIsupported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Question: What is (are) Exstrophy-epispadias complex ?
Answer: Exstrophyepispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fetal tissue known as the cloacal membrane during the first trimester of pregnancy. This results in the abnormal development of the abdominal wall of the fetus. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy or cloacal exstrophy. Therefore, depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for this condition. Treatment may involve several surgeries to repair the abdominal wall and any associated malformation. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.
Question: what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ?
Answer: Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.   New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients.
Question: How to prevent Parasites - Babesiosis ?
Answer: Steps can be taken to reduce the risk for babesiosis and other tickborne infections. The use of prevention measures is especially important for people at increased risk for severe babesiosis (for example, people who do not have a spleen). Avoiding exposure to tick habitats is the best defense. Babesia microti is spread by Ixodes scapularis ticks, which are mostly found in wooded, brushy, or grassy areas, in certain regions and seasons. No vaccine is available to protect people against babesiosis. However, people who live, work, or travel in tickinfested areas can take simple steps to help protect themselves against tick bites and tickborne infections.    During outdoor activities in tick habitats, take precautions to keep ticks off the skin.   Walk on cleared trails and stay in the center of the trail, to minimize contact with leaf litter, brush, and overgrown grasses, where ticks are most likely to be found.  Minimize the amount of exposed skin, by wearing socks, long pants, and a longsleeved shirt. Tuck the pant legs into the socks, so ticks cannot crawl up the inside of the pants. Wear lightcolored clothing, to make it easier to see and remove ticks before they attach to skin.  Apply repellents to skin and clothing. Follow the instructions on the product label.    Products that contain DEET (N,Ndiethylmetatoluamide) can be directly applied to exposed skin and to clothing, to help keep ticks away (by repelling them). The product label includes details about how and where to apply the repellent, how often to reapply it, and how to use it safely on children.  Permethrin products can be applied to clothing/boots (not to skin), actually kill ticks that come in contact with the treated clothing, and usually stay effective through several washings.      After outdoor activities, conduct daily tick checks and promptly remove any ticks that are found. Thorough, daily tick checks are very important. The I. scapularis nymphs that typically spread B. microti are so small (about the size of a poppy seed) that they are easily overlooked. But they usually must stay attached to a person for more than 3648 hours to be able to transmit the parasite.   Remove ticks from clothing and pets before going indoors.  Conduct a fullbody exam for ticks. Use a handheld or fulllength mirror to view all parts of the body. Be sure to check behind the knees, between the legs (groin/thighs), between the toes, under the arms (armpits), around the waist, inside the belly button, the back of the neck, behind and in the ears, as well as in and around the scalp, hairline, and hair. Remember to check children and pets, too.  Remove ticks that are attached to the skin as soon as possible, preferably by using pointed (finetipped) tweezers. Grab the tick���s mouth parts close to the skin, and slowly pull the tick straight out (with steady outward pressure), until the tick lets go. More on: Removing Ticks More on: Ticks
Question: What is (are) Melkersson-Rosenthal Syndrome ?
Answer: MelkerssonRosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddishbrown discoloration. The cause of MelkerssonRosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.
Question: What are the symptoms of Neuroferritinopathy ?
Answer: What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. 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) Chorea 90% Hypertonia 90% Incoordination 90% Abnormality of eye movement 50% Feeding difficulties in infancy 50% Gait disturbance 50% Constipation 7.5% Developmental regression 7.5% Hypotension 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Anarthria  Ataxia  Autosomal dominant inheritance  Babinski sign  Blepharospasm  Bradykinesia  Cavitation of the basal ganglia  Choreoathetosis  Decreased serum ferritin  Dementia  Disinhibition  Dysarthria  Dysphagia  Emotional lability  Hyperreflexia  Laryngeal dystonia  Mutism  Neurodegeneration  Parkinsonism  Phenotypic variability  Progressive  Rigidity  Spasticity  Writer's cramp  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.
Question: What are the treatments for purine nucleoside phosphorylase deficiency ?
Answer: These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency:  Baby's First Test: Severe Combined Immunodeficiency  Genetic Testing Registry: Purinenucleoside phosphorylase deficiency  National Marrow Donor Program These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  Diagnostic Tests  Drug Therapy  Surgery and Rehabilitation  Genetic Counseling  Palliative Care
Question: What is (are) aminoacylase 1 deficiency ?
Answer: Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 deficiency have no health problems related to the condition. A key feature common to all people with aminoacylase 1 deficiency is high levels of modified protein building blocks (amino acids), called Nacetylated amino acids, in the urine.
Question: What are the symptoms of Brachycephalofrontonasal dysplasia ?
Answer: What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal 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) Highly arched eyebrow 90% Hypertelorism 90% Long philtrum 90% Prominent nasal bridge 90% Thick eyebrow 90% Thin vermilion border 90% Abnormality of periauricular region 50% Abnormality of the helix 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Finger syndactyly 50% Frontal bossing 50% High anterior hairline 50% Lowset, posteriorly rotated ears 50% Ptosis 50% Round face 50% Shawl scrotum 50% Short nose 50% Short toe 50% Umbilical hernia 50% Abnormal localization of kidney 7.5% Advanced eruption of teeth 7.5% Arrhythmia 7.5% Atria septal defect 7.5% Chin dimple 7.5% Female pseudohermaphroditism 7.5% Omphalocele 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Proptosis 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance  Broad palm  Depressed nasal bridge  Prominent forehead  Wide nasal bridge  Widow's peak  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.
Question: What are the treatments for congenital insensitivity to pain ?
Answer: These resources address the diagnosis or management of congenital insensitivity to pain:  Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  Diagnostic Tests  Drug Therapy  Surgery and Rehabilitation  Genetic Counseling  Palliative Care
Question: What are the treatments for bradyopsia ?
Answer: These resources address the diagnosis or management of bradyopsia:  Children's Hospital of Pittsburgh: Electroretinogram  Genetic Testing Registry: Prolonged electroretinal response suppression  MedlinePlus Encyclopedia: Electroretinography  Prevent Blindness: Living Well with Low Vision These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  Diagnostic Tests  Drug Therapy  Surgery and Rehabilitation  Genetic Counseling  Palliative Care
Question: What is (are) ZAP70-related severe combined immunodeficiency ?
Answer: ZAP70related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or lifethreatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. Most individuals with ZAP70related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections.
Question: What are the symptoms of Omsk Hemorrhagic Fever (OHF) ?
Answer: After an incubation period of 38 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 34 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts.  After 12 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and encephalitis (inflammation of the brain).  The case fatality rate of OHF is low (0.5% to 3%).
Question: What is (are) Myasthenia Gravis ?
Answer: Myasthenia gravis is disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nervetomuscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke
Question: What are the genetic changes related to primary ciliary dyskinesia ?
Answer: Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps establish the leftright axis (the imaginary line that separates the left and right sides of the body) during embryonic development. Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. Mutations in the DNAI1 and DNAH5 genes account for up to 30 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.