Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of D-glycericacidemia ?
Answer: What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. 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) Sensorineural hearing impairment 5% Aminoaciduria - Autosomal recessive inheritance - Cerebral cortical atrophy - Delayed myelination - Encephalopathy - Failure to thrive - Growth delay - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Metabolic acidosis - Microcephaly - Muscular hypotonia of the trunk - Myoclonus - Neonatal hypotonia - Nonketotic hyperglycinemia - Opisthotonus - Phenotypic variability - Seizures - Spastic tetraplegia - 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 Congenital torticollis ?
Answer: What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. 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 - Facial asymmetry - Torticollis - 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) Pseudohypoparathyroidism type 1C ?
Answer: Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition 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. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.
Question:  What are the symptoms of Pseudohypoparathyroidism type 1C ?
Answer: What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. 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 - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - Short stature - 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 Leber congenital amaurosis 4 ?
Answer: What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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) Keratoconus 5% Attenuation of retinal blood vessels - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Macular atrophy - Nyctalopia - Optic disc pallor - Pendular nystagmus - Reduced visual acuity - Undetectable light- and dark-adapted electroretinogram - 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 Immune defect due to absence of thymus ?
Answer: What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. 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 recessive inheritance - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - 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 Absent patella ?
Answer: What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. 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 skin - Autosomal dominant inheritance - Patellar aplasia - Patellar hypoplasia - 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) Prurigo nodularis ?
Answer: Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely.  The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging.
Question:  What are the treatments for Prurigo nodularis ?
Answer: Is there treatment for prurigo nodularis? Prurigo nodularis can be challenging to treat.  Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. Several treatments may need to be tried.  You can read further treatment information by visiting the American Osteopathic College of Dermatology (ACOD) information page on prurigo nodularis.  Click here to view the page from the ACOD.
Question:  What are the symptoms of Spinocerebellar ataxia 14 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. 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) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - 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) Isovaleric acidemia ?
Answer: Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.
Question:  What are the symptoms of Isovaleric acidemia ?
Answer: What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Isovaleric acidemia. 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) Aminoaciduria 90% Cognitive impairment 90% Seizures 50% Cerebellar hemorrhage 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Coma - Dehydration - Hyperglycinuria - Ketoacidosis - Lethargy - Leukopenia - Metabolic acidosis - Pancytopenia - Thrombocytopenia - 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.
Question:  What causes Isovaleric acidemia ?
Answer: What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.
Question:  Is Isovaleric acidemia inherited ?
Answer: How is isovaleric acidemia inherited? Isovaleric acidemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question:  What are the treatments for Isovaleric acidemia ?
Answer: How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.
Question:  What is (are) Malignant peripheral nerve sheath tumor ?
Answer: A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue.  The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation.  MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung.  Treatment of MPNST begins with surgery to remove as much of the tumor as possible.  Radiation therapy may be used to decrease the chance of a recurrence.  Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis.  MPNSTs are quite rare, occurring in 0.001% of the general population.  Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
Question:  What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ?
Answer: BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
Question:  What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ?
Answer: What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer 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) Autosomal dominant inheritance - Breast carcinoma - Multifactorial 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.