randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of Complement component 2 deficiency ? 
 What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 deficiency. 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 - Purpura - Systemic lupus erythematosus - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Early-onset myopathy, areflexia, respiratory distress and dysphagia ? 
 What are the signs and symptoms of Early-onset myopathy, areflexia, respiratory distress and dysphagia? The Human Phenotype Ontology provides the following list of signs and symptoms for Early-onset myopathy, areflexia, respiratory distress and dysphagia. 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) Seizures 5% Areflexia - Autosomal recessive inheritance - Camptodactyly of finger - Cleft palate - Congenital onset - Decreased fetal movement - Diaphragmatic paralysis - Difficulty running - Dysphagia - Facial palsy - Failure to thrive - High palate - Hyporeflexia - Motor delay - Nasal speech - Neonatal hypotonia - Pectus excavatum - Poor head control - Respiratory failure - Restrictive lung disease - Scoliosis - Talipes equinovarus - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 ? 
 What are the signs and symptoms of Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2. 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) Amelogenesis imperfecta - X-linked 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.
This is a medical question of type : symptoms 
 What are the symptoms of Weyers ulnar ray/oligodactyly syndrome ? 
 What are the signs and symptoms of Weyers ulnar ray/oligodactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers ulnar ray/oligodactyly 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) Absent thumb - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - High palate - Hydronephrosis - Hypoplasia of the radius - Hypotelorism - Long face - Mesomelia - Narrow face - Oligodactyly (hands) - Proximal placement of thumb - Proximal radial head dislocation - 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.
This is a medical question of type : information 
 What is (are) Citrullinemia type I ? 
 Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern.
This is a medical question of type : symptoms 
 What are the symptoms of Citrullinemia type I ? 
 What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants with the acute neonatal form typically appear normal at birth, but as ammonia builds up in the body they become progressively lethargic, feed poorly, vomit, and develop signs of increased intracranial pressure, which can lead to seizures and loss of consciousness. Less commonly, a milder form of citrullinemia type I can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, slurred speech, problems with balance and muscle coordination (ataxia), behavior problems, and lethargy. Episodes of high blood ammonia often happen after going without food for long periods of time, during illness or infection or after high-protein meals. Some people with gene mutations that cause citrullinemia type I never experience signs and symptoms of the disorder and are only found to be affected after a brother or sister is diagnosed. The Human Phenotype Ontology provides the following list of signs and symptoms for Citrullinemia type I. 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) Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hepatomegaly - Hyperammonemia - Hyperglutaminemia - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Neonatal onset - Oroticaciduria - Phenotypic variability - Protein avoidance - Respiratory alkalosis - Seizures - 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.
This is a medical question of type : causes 
 What causes Citrullinemia type I ? 
 What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition.
This is a medical question of type : inheritance 
 Is Citrullinemia type I inherited ? 
 How is citrullinemia type I inherited? Citrullinemia type I 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.
This is a medical question of type : treatment 
 What are the treatments for Citrullinemia type I ? 
 What happens when citrullinemia type I is not treated?  Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life.
This is a medical question of type : information 
 What is (are) Hyper-IgD syndrome ? 
 Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case.  Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK). It is inherited in an autosomal recessive manner.
This is a medical question of type : symptoms 
 What are the symptoms of Hyper-IgD syndrome ? 
 What are the signs and symptoms of Hyper-IgD syndrome? Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. The first attack usually takes place during infancy. Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist. The Human Phenotype Ontology provides the following list of signs and symptoms for Hyper-IgD 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) Abdominal pain 90% Abnormality of temperature regulation 90% Arthralgia 90% Gastrointestinal hemorrhage 90% Hepatomegaly 90% Lymphadenopathy 90% Myalgia 90% Abnormality of the oral cavity 50% Arthritis 50% Diarrhea 50% Migraine 50% Urticaria 50% Vasculitis 50% Abnormal immunoglobulin level 7.5% Acrocyanosis 7.5% Cognitive impairment 7.5% Incoordination 7.5% Intestinal obstruction 7.5% Limitation of joint mobility 7.5% Peritonitis 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Rod-cone dystrophy 5% Autosomal recessive inheritance - Elevated erythrocyte sedimentation rate - Headache - Hypermelanotic macule - Increased IgA level - Leukocytosis - Nyctalopia - Optic disc pallor - Skin rash - Splenomegaly - Vertigo - 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.
This is a medical question of type : causes 
 What causes Hyper-IgD syndrome ? 
 What causes hyper IgD syndrome? Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene. The gene is located at chromosome 12q24.
This is a medical question of type : inheritance 
 Is Hyper-IgD syndrome inherited ? 
 Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, 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. About one half of patients have a positive family history.
This is a medical question of type : treatment 
 What are the treatments for Hyper-IgD syndrome ? 
 How might hyper IgD syndrome be treated? There is no cure for hyper IgD syndrome and currently no established treatment.  Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks.   Consultations with the following specialists may be helpful: dermatologist, rheumatologist, and infectious disease specialist (to evaluate periodic fever).
This is a medical question of type : symptoms 
 What are the symptoms of WT limb blood syndrome ? 
 What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood 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 metacarpal bones 90% Anemia 90% Aplasia/Hypoplasia of the thumb 90% Abnormality of leukocytes 50% Abnormality of the ulna 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Elbow dislocation 50% Lymphoma 50% Thrombocytopenia 50% Abnormality of the wrist 7.5% Brachydactyly syndrome 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Single transverse palmar crease 7.5% Absent thumb - Autosomal dominant inheritance - Hypoplastic anemia - Irregular hyperpigmentation - Joint contracture of the 5th finger - Leukemia - Pancytopenia - Radioulnar synostosis - Retrognathia - Sensorineural hearing impairment - Short phalanx of finger - Short thumb - Ulnar deviation of the 3rd finger - Ulnar deviation of thumb - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Nelson syndrome ? 
 What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson 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 skin - Autosomal dominant 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.
This is a medical question of type : symptoms 
 What are the symptoms of Conductive deafness with malformed external ear ? 
 What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Brachydactyly types B and E combined ? 
 What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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 - Brachydactyly syndrome - Broad distal phalanx of finger - Broad thumb - Concave nail - Short 4th finger - Short 4th metacarpal - Short 5th finger - Short 5th metacarpal - Short fifth metatarsal - Short thumb - 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.