Timbrt/Liver-Text-OA huggingface dataset:
Question: What are the symptoms of Autosomal recessive polycystic kidney disease ?
Answer: What are the signs and symptoms of Autosomal recessive polycystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive polycystic kidney 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) Congenital hepatic fibrosis 90% Depressed nasal ridge 90% Hypoplasia of the ear cartilage 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Polycystic kidney dysplasia 90% Renal insufficiency 90% Respiratory insufficiency 90% Abnormality of the pancreas 50% Biliary tract abnormality 50% Cystic liver disease 50% Renal hypoplasia/aplasia 50% Neonatal death 5% Absence of renal corticomedullary differentiation - Autosomal recessive inheritance - Dehydration - Enlarged kidneys - Esophageal varix - Hepatic cysts - Hepatomegaly - Oligohydramnios - Pancreatic cysts - Periportal fibrosis - Portal hypertension - Potter facies - Pulmonary hypoplasia - Renal cyst - Splenomegaly - Tubulointerstitial fibrosis - 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 treatments for Autosomal recessive polycystic kidney disease ?
Answer: Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors. Medical management is currently symptomatic and involves supportive care. Mechanical ventilation may be used to treat the underdevelopment of the lungs and breathing issues caused by the kidneys that are enlarged due to the numerous cysts. When the kidneys are severely enlarged, one or both kidneys may be removed (nephrectomy). Dialysis may be required during the first days of life if the infant is producing little urine (oliguria) or no urine (anuria). Low levels of sodium (hyponatremia) may occur and is treated with diuresis and/or sodium supplementation depending on the individual's specific levels. High blood pressure (hypertension) is treated with medication. Kidney failure requires dialysis, and kidney transplantation is another option. Poor eating and growth failure may be managed with gastrostomy tubes. Growth hormone therapy may be used to treat the growth failure and kidney insufficiency. Urinary tract infections are treated with antibiotics. Those with liver involvement may require shunt to treat the progressive high blood pressure and possibly liver transplantation.
Question: What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?
Answer: What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. 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) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - 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 Scheie syndrome ?
Answer: What are the signs and symptoms of Scheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for Scheie 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 aortic valve 90% Cerebral palsy 90% Decreased nerve conduction velocity 90% Glaucoma 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Coarse facial features 50% Hepatomegaly 50% Splenomegaly 50% Thick lower lip vermilion 50% Hemiplegia/hemiparesis 7.5% Hypertonia 7.5% Sensorineural hearing impairment 7.5% Sinusitis 7.5% Wide mouth 7.5% Retinal degeneration 5% Aortic regurgitation - Aortic valve stenosis - Autosomal recessive inheritance - Broad face - Corneal opacity - Depressed nasal bridge - Full cheeks - Genu valgum - Mandibular prognathia - Obstructive sleep apnea - Pes cavus - Short neck - Wide nose - 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) Neonatal intrahepatic cholestasis caused by citrin deficiency ?
Answer: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
Question: What are the symptoms of Neutral lipid storage disease with myopathy ?
Answer: What are the signs and symptoms of Neutral lipid storage disease with myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutral lipid storage disease with 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) Areflexia 5% Cardiomyopathy 5% Diabetes mellitus 5% Hypertriglyceridemia 5% Neck muscle weakness 5% Sensorineural hearing impairment 5% Short stature 5% Adult onset - Autosomal recessive inheritance - Difficulty running - Difficulty walking - Easy fatigability - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Fasciculations - Gowers sign - Hepatic steatosis - Hepatomegaly - Increased muscle lipid content - Muscular hypotonia - Myalgia - Myopathy - Proximal muscle weakness - Slow progression - 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.
Question: What are the symptoms of Schindler disease type 1 ?
Answer: What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease type 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) Abnormal pyramidal signs 90% Autism 90% Cataract 90% Cognitive impairment 90% Developmental regression 90% Hearing impairment 90% Hypertonia 90% Muscle weakness 90% Seizures 90% Strabismus 90% Visual impairment 90% Hemiplegia/hemiparesis 50% Hepatomegaly 50% Hyperkeratosis 50% Hypertrophic cardiomyopathy 50% Involuntary movements 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Telangiectasia of the skin 50% Vertigo 50% Aplasia/Hypoplasia of the cerebellum 7.5% Lymphedema 7.5% Paresthesia 7.5% Autosomal recessive inheritance - Cortical visual impairment - Generalized amyotrophy - Hyperreflexia - Increased urinary O-linked sialopeptides - Infantile onset - Intellectual disability, severe - Myoclonus - Osteopenia - Spasticity - 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) Lemierre syndrome ?
Answer: Lemierre syndrome is a rare and potentially life-threatening illness. The bacterium responsible for this disease is typically Fusobacterium necrophorum, although a wide variety of bacteria have been reported as causing the disease.  The bacterial infection begins in the oropharynx then spreads through the lymphatic vessels. Following this primary infection, thrombophlebitis of the internal jugular vein (IJV) develops. The final phase of the disease occurs when septic emboli (pus-containing tissue) migrate from their original location in the body to various organs. The lungs are most commonly involved, however other sites may include the joints, muscle, skin and soft tissue, liver, and spleen.  The symptoms of Lemierre syndrome include fever, sore throat, neck swelling, pulmonary involvement and joint pain. It is an uncommon disease that occurs in about one person per million per year. The disease primarily affects healthy young people before age 40. Diagnosis of Lemierre syndrome rests on the presence of a blood clot (or clots) in the IJV and blood cultures that show the presence of Fusobacterium necrophorum. Intravenous antibiotics are the mainstay of treatment.
Question: What are the symptoms of Lemierre syndrome ?
Answer: What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the internal jugular vein.[ If undiagnosed, the next stage is the "metastasis" of septic emboli to the lungs, abdominal organs, brain or heart. Lung involvement typically results in a productive cough (a cough that brings up mucus or phlegm) and chest pain. Girls may report abdominal pain and have enlargement of the liver (hepatomegaly) and jaundice, all of which indicate involvement of the liver.
Question: What are the treatments for Afibrinogenemia ?
Answer: How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.
Question: What are the symptoms of Congenital toxoplasmosis ?
Answer: What are the signs and symptoms of Congenital toxoplasmosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital toxoplasmosis. 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 retinal pigmentation 90% Premature birth 90% Visual impairment 50% Anemia 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Ascites 7.5% Cardiomegaly 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Diarrhea 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypermelanotic macule 7.5% Intrauterine growth retardation 7.5% Lymphadenopathy 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Seizures 7.5% Thrombocytopenia 7.5% Ventriculomegaly 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.
Question: What are the symptoms of Hemochromatosis type 4 ?
Answer: What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 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) Abnormality of iron homeostasis 90% Arthralgia 90% Generalized hyperpigmentation 90% Joint swelling 90% Limitation of joint mobility 90% Abdominal pain 50% Hepatic steatosis 50% Cirrhosis 7.5% Congenital hepatic fibrosis 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.
Question: What are the symptoms of Hyper-IgD syndrome ?
Answer: 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.
Question: What is (are) Mitochondrial complex IV deficiency ?
Answer: Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood.