sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Mucopolysaccharidosis type IIIB ?

Answer:
What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. 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) Aggressive behavior - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cardiomegaly - Coarse facial features - Coarse hair - Dense calvaria - Diarrhea - Dysostosis multiplex - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Juvenile onset - Ovoid thoracolumbar vertebrae - Progressive neurologic deterioration - Recurrent upper respiratory tract infections - Seizures - Sleep disturbance - Splenomegaly - Synophrys - Thickened ribs - 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 symptoms of Charcot-Marie-Tooth disease type 2J ?

Answer:
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. 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 - Abnormality of the respiratory system - Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal muscle weakness - Distal sensory impairment - Dysphagia - Foot dorsiflexor weakness - Hyporeflexia - Peripheral demyelination - Pes cavus - Progressive sensorineural hearing impairment - Sensorineural hearing impairment - Steppage 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.
Question:
What are the symptoms of Epidermolysis bullosa, lethal acantholytic ?

Answer:
What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. 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 blistering of the skin 90% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - 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) VLCAD deficiency ?

Answer:
VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Question:
What are the symptoms of VLCAD deficiency ?

Answer:
What are the signs and symptoms of VLCAD deficiency? There are three forms of VLCAD deficiency: a severe, early-onset form; a hepatic (liver) or hypoketotic hypoglycemic form; and a later-onset episodic myopathic form. Signs and symptoms of the severe, early-onset form occur in the first few months of life and include cardiomyopathy (heart disease), pericardial effusion (fluid around the heart), heart arrhythmias (abnormal heart beat), low muscle tone, enlarged liver, and intermittent hypoglycemia (low blood sugar). The heart problems can be life threatening, but are often improved with early treatment and diet modifications. People affected by the hepatic or hypoketotic hypoglycemic form typically develop symptoms during early childhood. These features may include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy). "Hypoketotic" refers to a low level of ketones, which are produced during the breakdown of fats and used for energy. Hypoglycemia refers to low blood sugar. Together, these signs are called "hypoketotic hypoglycemia." The episodes of hypoglycemia seen in the early-onset form and hepatic/hypoketotic hypoglycemia form can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death. Periods of hypoglycemia can also occur with other symptoms as part of a metabolic crisis. Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance. It is the most common form of VLCAD deficiency.
Question:
What causes VLCAD deficiency ?

Answer:
What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. Because very long-chain fatty acids are an important source of energy, particularly for the heart and muscles, this may result in certain symptoms such as lethargy and hypoglycemia. Fats that are not properly broken down can also build-up and damage tissues such as the heart, liver, and muscles, which can cause the other features seen in people with VLCAD deficiency.
Question:
Is VLCAD deficiency inherited ?

Answer:
Is VLCAD deficiency inherited? VLCAD deficiency 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.
Question:
How to diagnose VLCAD deficiency ?

Answer:
How is VLCAD deficiency diagnosed? A diagnosis of VLCAD deficiency may be suspected based on an abnormal newborn screen or the presence of characteristic signs and symptoms. In both of these cases, additional testing can then be ordered to further investigate the diagnosis. This testing may include specialized tests performed on a sample of blood, urine, skin cells, muscle, and/or liver tissue. Genetic testing for changes (mutations) in the ACADVL gene can confirm the diagnosis. GeneReview's Web site offers more specific information about the diagnosis of VLCAD deficiency. Please click on the link to access this resource.
Question:
What are the treatments for VLCAD deficiency ?

Answer:
How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet.
Question:
What are the symptoms of Irons Bhan syndrome ?

Answer:
What are the signs and symptoms of Irons Bhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Irons Bhan 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 nail - Atria septal defect - Atrial flutter - Autosomal recessive inheritance - Broad nasal tip - Delayed speech and language development - Depressed nasal bridge - Epicanthus - High forehead - Hydrocele testis - Lymphedema - Oligohydramnios - Omphalocele - Overriding aorta - Patent ductus arteriosus - Prominent forehead - Round face - Severe hydrops fetalis - Telecanthus - Upslanted palpebral fissure - Vascular ring - Ventricular septal defect - 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) Dermatofibrosarcoma protuberans ?

Answer:
Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.
Question:
What are the symptoms of Dermatofibrosarcoma protuberans ?

Answer:
What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. 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) Neoplasm of the skin 90% Sarcoma 90% Thickened skin 90% Skin ulcer 50% 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 Dermatofibrosarcoma protuberans ?

Answer:
What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited.
Question:
What is (are) Familial amyloidosis, Finnish type ?

Answer:
Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.
Question:
What are the symptoms of Dystonia 16 ?

Answer:
What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 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) Cognitive impairment 5% Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Delayed speech and language development - Dysarthria - Dysphagia - Gait disturbance - Hyperreflexia - Involuntary movements - Laryngeal dystonia - Limb dystonia - Lower limb pain - Morphological abnormality of the pyramidal tract - Motor delay - Parkinsonism - Postural tremor - Progressive - Retrocollis - 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) Erythema multiforme ?

Answer:
Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).
Question:
What are the symptoms of Tricho-dento-osseous syndrome 1 ?

Answer:
What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 1. 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% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - 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.
Question:
What is (are) Tracheobronchomalacia ?

Answer:
Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and most people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Most cases of primary TBM are caused by genetic conditions that weaken the walls of the airway, while the secondary form often occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways. Treatment is generally only required in those who have signs and symptoms of the condition and may include stenting, surgical correction, continuous positive airway pressure (CPAP), and tracheostomy.
Question:
What are the symptoms of Tracheobronchomalacia ?

Answer:
What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typically develops during infancy or early childhood, while secondary TBM (also called acquired TBM) is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and many people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Symptoms may become worse during periods of stress (i.e. illness), when reclining, or when forcing a cough. Infants and young children with TBM tend to have more frequent respiratory infections and delayed recovery from these illnesses.