fenil210/Med-Lamma huggingface dataset:
What is (are) Asthma ?
Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms ("asthma attacks") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack. + GARD + Asthma
What are the symptoms of Asthma ?
What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. 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) Asthma - 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. + GARD + Asthma
What is (are) Wolman disease ?
Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. The condition is severe and life-threatening, however new therapies, such as bone marrow transplantation, have shown promise in improving the outlook of children with this disease. Enzyme replacement therapy is also being developed. + GARD + Wolman disease
What are the symptoms of Wolman disease ?
What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman 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) Abdominal pain 90% Cognitive impairment 90% Hepatic failure 90% Hepatomegaly 90% Hyperkeratosis 90% Malabsorption 90% Nausea and vomiting 90% Anemia 50% Ascites 50% Atherosclerosis 50% Congenital hepatic fibrosis 50% Multiple lipomas 50% Splenomegaly 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the adrenal glands 7.5% Cirrhosis 7.5% Esophageal varix 7.5% Pruritus 7.5% Reduced consciousness/confusion 7.5% Adrenal calcification - Autosomal recessive inheritance - Bone-marrow foam cells - Death in infancy - Diarrhea - Failure to thrive - Hepatic fibrosis - Hepatosplenomegaly - Hypercholesterolemia - Protuberant abdomen - Pulmonary hypertension - Steatorrhea - Vacuolated lymphocytes - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Wolman disease
What are the treatments for Wolman disease ?
How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Wolman syndrome[ti] treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed   The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. + GARD + Wolman disease
What are the symptoms of Infantile spasms broad thumbs ?
What are the signs and symptoms of Infantile spasms broad thumbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile spasms broad thumbs. 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 fontanelles or cranial sutures 90% Abnormality of thumb phalanx 90% Aplasia/Hypoplasia of the corpus callosum 90% Cataract 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Convex nasal ridge 90% EEG abnormality 90% Hypertelorism 90% Hypertrophic cardiomyopathy 90% Microcephaly 90% Seizures 90% Vaginal hernia 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. + GARD + Infantile spasms broad thumbs
What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ?
What are the signs and symptoms of Cholestasis, progressive familial intrahepatic 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. 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) Elevated hepatic transaminases 90% Hepatomegaly 90% Abnormality of coagulation 50% Gastrointestinal hemorrhage 50% Splenomegaly 50% Cirrhosis 7.5% Nyctalopia 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Reduced bone mineral density 7.5% Abnormality of the coagulation cascade - Acholic stools - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Giant cell hepatitis - Hepatic failure - Hyperbilirubinemia - Hypocholesterolemia - Intrahepatic cholestasis - Jaundice - Neonatal onset - Steatorrhea - 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. + GARD + Cholestasis, progressive familial intrahepatic 4
What is (are) Eisenmenger syndrome ?
Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension). + GARD + Eisenmenger syndrome
What are the symptoms of Eisenmenger syndrome ?
What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood. + GARD + Eisenmenger syndrome
What causes Eisenmenger syndrome ?
What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA).  The hole allows blood that has already picked up oxygen from the lungs to flow abnormally back into the lungs, instead of going out to the rest of the body. Over time, this increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart, and oxygen-poor blood travels to the rest of the body. + GARD + Eisenmenger syndrome
What are the treatments for Eisenmenger syndrome ?
How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse. Children with very severe symptoms may need a heart-lung transplant. Adult patients with Eisenmenger syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease. + GARD + Eisenmenger syndrome
What is (are) Pseudohypoparathyroidism type 1A ?
Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner. + GARD + Pseudohypoparathyroidism type 1A
What are the symptoms of Pseudohypoparathyroidism type 1A ?
What are the signs and symptoms of Pseudohypoparathyroidism type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1A. 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 - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - 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. + GARD + Pseudohypoparathyroidism type 1A
What is (are) Muscular dystrophy ?
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities. + GARD + Muscular dystrophy
What are the symptoms of Bixler Christian Gorlin syndrome ?
What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin 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) Atresia of the external auditory canal 90% Hypertelorism 90% Microcephaly 90% Oral cleft 90% Abnormal localization of kidney 50% Cognitive impairment 50% Conductive hearing impairment 50% Short stature 50% 2-3 toe syndactyly - Abnormality of cardiovascular system morphology - Abnormality of the vertebrae - Autosomal recessive inheritance - Bifid nose - Broad nasal tip - Cleft palate - Cleft upper lip - Ectopic kidney - Facial cleft - Microtia - Narrow mouth - Short 5th finger - Small thenar eminence - 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. + GARD + Bixler Christian Gorlin syndrome
What is (are) Collagenous colitis ?
Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may be ongoing or intermittent and may include chronic, watery, non-bloody diarrhea and abdominal pain or cramps. The exact underlying cause is unknown but may relate to a bacteria, a virus, an autoimmune response, and/or a genetic predisposition. Treatment for collagenous colitis varies depending on the symptoms and severity in each individual. In some cases, the condition resolves on its own. + GARD + Collagenous colitis
What are the symptoms of Collagenous colitis ?
What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be intermittent and can occur over weeks, months or years. Other signs and symptoms that commonly occur in affected individuals include abdominal pain or cramping; flatulence; bloating; and weight loss. Incontinence, urgency, nausea, vomiting and fatigue have also been reported. Some individuals with collagenous colitis experience spontaneous remission even without treatment; however, relapses can occur. + GARD + Collagenous colitis
What are the treatments for Collagenous colitis ?
How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usually tried first to alleviate symptoms. These changes may include a reduced-fat diet, eliminating foods that contain caffeine and lactose, and avoiding over-the-counter pain relievers such as ibuprofen or aspirin. If these changes alone are not enough, medications can be used to help control symptoms. However, the response rate to various types of medication reportedly varies. Prescription anti-inflammatory medications such as mesalamine and sulfasalazine may help reduce swelling. Steroids including budesonide and prednisone can be used reduce inflammation, but they are usually only used to control sudden attacks of diarrhea. Long-term use of steroids is typically avoided because of unwanted side effects. Anti-diarrheal medications such as bismuth subsalicylate, diphenoxylate with atropine, and loperamide can offer short-term relief. Immunosuppressive agents such as azathioprine help to reduce inflammation but are rarely needed. In extreme cases where the condition does not respond to medications, surgery to remove all or part of the colon may be necessary. However, surgery is rarely recommended. + GARD + Collagenous colitis
What are the symptoms of Spinocerebellar ataxia 40 ?
What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. 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) Broad-based gait - Dysarthria - Dysdiadochokinesis - Hyperreflexia - Intention tremor - Pontocerebellar atrophy - Spastic paraparesis - Unsteady gait - 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. + GARD + Spinocerebellar ataxia 40