sarnsrun/medquad huggingface dataset:
Topic: Adult-onset Still's disease
Question: What are the symptoms of Adult-onset Still's disease ?
Answer: What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's 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 temperature regulation 90% Arthralgia 90% Arthritis 90% Hepatomegaly 90% Joint swelling 90% Leukocytosis 90% Pruritus 90% Restrictive lung disease 90% Skin rash 90% Splenomegaly 90% Urticaria 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Mediastinal lymphadenopathy 50% Myalgia 50% Abnormality of lipid metabolism 7.5% Abnormality of the myocardium 7.5% Bone marrow hypocellularity 7.5% Cartilage destruction 7.5% Elevated hepatic transaminases 7.5% Meningitis 7.5% Recurrent pharyngitis 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.
Source: GARD
Topic: Adult-onset Still's disease
Question: What causes Adult-onset Still's disease ?
Answer: What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove or disprove either theory.
Source: GARD
Topic: Menetrier disease
Question: What is (are) Menetrier disease ?
Answer: Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of stomach acid) or achlorhydia (absent levels of stomach acid).   Symptoms usually include vomiting, diarrhea, and weight loss. The disease may increase an individual's risk of developing stomach cancer.
Source: GARD
Topic: Menetrier disease
Question: What are the symptoms of Menetrier disease ?
Answer: What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier 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% Edema of the lower limbs 90% Nausea and vomiting 90% Anorexia 50% Gastrointestinal hemorrhage 50% Hypoproteinemia 50% Iron deficiency anemia 50% Weight loss 50% Sepsis 7.5% Giant hypertrophic gastritis - 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.
Source: GARD
Topic: Menetrier disease
Question: What causes Menetrier disease ?
Answer: What causes Mntrier disease? The exact cause of Mntrier disease is unknown.  However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-, which is found in a specific part of the stomach, the superficial gastric epithelium, might play a role.
Source: GARD
Topic: Menetrier disease
Question: What are the treatments for Menetrier disease ?
Answer: What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally recommended for those patients who continue to have protein loss or who have signs of pre-cancer or cancer. You can locate additional treatment information by searching 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 "menetrier disease AND 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.
Source: GARD
Topic: Salivary gland cancer, adult
Question: What is (are) Salivary gland cancer, adult ?
Answer: Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands.  Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2]
Source: GARD
Topic: Myofibrillar myopathy
Question: What is (are) Myofibrillar myopathy ?
Answer: Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC,  and BAG3; the signs and symptoms of MFM can vary widely depending on the condition's genetic cause. It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness.
Source: GARD
Topic: Myofibrillar myopathy
Question: What are the symptoms of Myofibrillar myopathy ?
Answer: What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts). The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar myopathy. 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) Arrhythmia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bulbar palsy - Constipation - Diarrhea - Dilated cardiomyopathy - Distal muscle weakness - EMG: myopathic abnormalities - Facial palsy - Hypertrophic cardiomyopathy - Hyporeflexia of lower limbs - Late-onset proximal muscle weakness - Neck muscle weakness - Phenotypic variability - Respiratory insufficiency due to muscle weakness - Restrictive heart failure - 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.
Source: GARD
Topic: Hypertrichosis lanuginosa, acquired
Question: What are the symptoms of Hypertrichosis lanuginosa, acquired ?
Answer: What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. 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 eye 90% Abnormality of the eyebrow 90% Congenital, generalized hypertrichosis 90% Fine hair 90% Hypopigmentation of hair 90% Glossitis 50% Acanthosis nigricans 7.5% Ichthyosis 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Ovarian neoplasm 7.5% Weight loss 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.
Source: GARD
Topic: Kohlschutter Tonz syndrome
Question: What are the symptoms of Kohlschutter Tonz syndrome ?
Answer: What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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 dental color 90% Abnormality of dental enamel 90% Developmental regression 90% EEG abnormality 90% Hypertonia 90% Seizures 90% Hypohidrosis 50% Hydrocephalus 7.5% Short stature 7.5% Amelogenesis imperfecta - Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Dementia - Epileptic encephalopathy - Hypoplasia of dental enamel - Hypsarrhythmia - Intellectual disability, severe - Spasticity - Variable expressivity - Ventriculomegaly - 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.
Source: GARD
Topic: Cataract and cardiomyopathy
Question: What are the symptoms of Cataract and cardiomyopathy ?
Answer: What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - Variable expressivity - 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.
Source: GARD
Topic: Angelman syndrome
Question: What is (are) Angelman syndrome ?
Answer: Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services.
Source: GARD
Topic: Angelman syndrome
Question: What are the symptoms of Angelman syndrome ?
Answer: What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tongue 90% Behavioral abnormality 90% Broad-based gait 90% Cerebral cortical atrophy 90% Clumsiness 90% Cognitive impairment 90% EEG abnormality 90% Incoordination 90% Mandibular prognathia 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Sporadic 75% Abnormality of the teeth 50% Hyperreflexia 50% Malar flattening 50% Wide mouth 50% Hernia of the abdominal wall 7.5% Strabismus 7.5% Absent speech - Autosomal dominant inheritance - Blue irides - Brachycephaly - Constipation - Deeply set eye - Drooling - Exotropia - Fair hair - Feeding difficulties in infancy - Flat occiput - Hyperactivity - Hypopigmentation of the skin - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Limb tremor - Macroglossia - Motor delay - Myopia - Nystagmus - Obesity - Paroxysmal bursts of laughter - Progressive gait ataxia - Protruding tongue - Scoliosis - Sleep-wake cycle disturbance - Widely spaced teeth - 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.
Source: GARD
Topic: Angelman syndrome
Question: What causes Angelman syndrome ?
Answer: What causes Angelman syndrome? Angelman syndrome is caused by a loss of function of a gene called UBE3A on chromosome 15. The exact mechanism that causes this loss of function is complex. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother is active. This parent-specific gene activation is known as genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain. Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases, Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a small percentage of cases, a person with Angelman syndrome inherits two copies of chromosome 15 from his or her father, instead of one copy from each parent. This is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15. The cause of Angelman syndrome is unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the condition in these individuals.
Source: GARD