Timbrt/Liver-Text-OA huggingface dataset:
Question: What are the symptoms of Tylosis with esophageal cancer ?
Answer: What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. Esophageal carcinoma usually develops in the lower two-thirds of the esophagus at an average age of 45 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Tylosis with esophageal cancer. 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 intestine 90% Esophageal neoplasm 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Palmoplantar keratoderma 90% Abnormality of the mediastinum 50% Ascites 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Weight loss 50% Clubbing of toes 7.5% Vocal cord paresis 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Diffuse palmoplantar hyperkeratosis - Esophageal carcinoma - Parakeratosis - 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 DCMA syndrome ?
Answer: What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - 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) COACH syndrome ?
Answer: COACH syndrome is a condition that mainly affects the brain and liver.  Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia).  Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).  This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene.  COACH syndrome is considered a rare form of another condition, Joubert syndrome.
Question: How to diagnose COACH syndrome ?
Answer: How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis).
Question: What is (are) Amyloidosis AA ?
Answer: Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount of a specific protein called serum amyloid A (SAA) protein. In this disease, part of the SAA protein forms deposits called "amyloid fibrils". These desposits occur in the space around the cells of certain tissues of the body. Amyloidosis AA usually begins as a disease in the kidneys, but other organs can be affected such as the liver and spleen. Medical or surgical treatment of the underlying infection or inflammatory disease can slow down or stop the progression of this condition.
Question: What are the treatments for Glycogen storage disease type 4 ?
Answer: How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.
Question: What are the treatments for Wandering spleen ?
Answer: How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. Splenopexy (surgically fixing the floating spleen) is associated with a high risk of recurrence and complications and is not the preferred treatment choice.
Question: What is (are) Immunotactoid glomerulopathy ?
Answer: Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID),  is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron microscopy, immunotactoid glomerulopathy is characterized by the formation of microtubules which are much larger than the fibrils observed in fibrillary glomerulonephritis (30 to 50 versus 16 to 24 nm in diameter). The signs and symptoms include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease. Also, patients with immunotactoid glomerulopathy have a greater risk to have chronic lymphocytic leukemia and B cell lymphomas and should be screened for all of these conditions. Treatment is generally determined by the severity of the kidney problems.
Question: What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ?
Answer: What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.
Question: What are the symptoms of Galactose epimerase deficiency ?
Answer: What are the signs and symptoms of Galactose epimerase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Galactose epimerase 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) Aminoaciduria 90% Cataract 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hepatomegaly 90% Muscular hypotonia 90% Nausea and vomiting 90% Splenomegaly 90% Weight loss 90% Autosomal recessive inheritance - Delayed gross motor development - Delayed speech and language development - Failure to thrive - Galactosuria - Hypergalactosemia - Intellectual disability - Jaundice - Sensorineural hearing impairment - 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) Toxocariasis ?
Answer: Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis - when the larvae infect the eye and cause vision loss, eye inflammation, and/or damage to the retina. Visceral Toxocariasis - when the larvae infect various organs of the body (i.e. the liver or the central nervous system) and cause fever, fatigue, coughing, wheezing, and/or abdominal pain. Toxocariasis is generally spread through dirt that has been contaminated with animal feces that contain infectious Toxocara eggs. Young children and owners of dogs and cats have a higher chance of becoming infected. Visceral toxocariasis is treated with antiparasitic medications. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye.
Question: What are the symptoms of Congenital rubella ?
Answer: What are the signs and symptoms of Congenital rubella? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital rubella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Intrauterine growth retardation 90% Neurological speech impairment 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the pulmonary artery 50% Anemia 50% Aplasia/Hypoplasia of the iris 50% Atria septal defect 50% Cognitive impairment 50% Glaucoma 50% Hepatomegaly 50% Hypertonia 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Patent ductus arteriosus 50% Short stature 50% Skin rash 50% Splenomegaly 50% Strabismus 50% Thrombocytopenia 50% Ventricular septal defect 50% Visual impairment 50% Abnormality of the metaphyses 7.5% Opacification of the corneal stroma 7.5% Seizures 7.5% Type I diabetes mellitus 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 treatments for Familial hypercholesterolemia ?
Answer: How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozygous form (also called the autosomal dominant form) is changing the diet to reduce the total amount of fat eaten. This may be accomplished by limiting the amount of beef, pork, and lamb in the diet; cutting out butter, whole milk, fatty cheeses and oils; and eliminating egg yolks, organ meats and other sources of saturated fat from animals. Dietary counseling is often recommended to help individuals change their eating habits. Exercise and weight loss may also help in lowering cholesterol levels. Drug therapy is also often necessary lifestyle changes may not be enough to lower cholesterol levels. Several different cholesterol-lowering medications may be used alone or in combination; they may include statins, bile acid sequestrants, ezetemibe, niacin, gemfibrozil, and fenofibrate. Individuals with the more severe, homozygous form of FH (also called the autosomal recessive form) need more aggressive therapies to treat their significantly elevated levels of cholesterol. Drug therapy is often not effective enough at lowering LDL cholesterol levels. Therefore, individuals with this form may need periodical LDL apheresis, a procedure that removes LDL from the blood. In some cases, major surgery such as a liver transplant is necessary.
Question: What are the symptoms of HELLP syndrome ?
Answer: What are the signs and symptoms of HELLP syndrome? Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands. Vision problems may also be observed. Rarely, they may have bleeding from the gums or other places.  Because healthy pregnant women may also have these symptoms late in pregnancy, it may be hard to know for sure if they are attributable to HELLP syndrome. A doctor may order blood tests to determine if these symptoms are the result of HELLP syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for HELLP 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 - Eclampsia - Edema - Elevated hepatic transaminases - Hypertension - Intrauterine growth retardation - Maternal hypertension - Preeclampsia - Proteinuria - Seizures - Thrombocytopenia - 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) Zellweger spectrum ?
Answer: Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.
Question: What is (are) Wolman disease ?
Answer: Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. The condition is severe and life-threatening, however new therapies, such as bone marrow transplantation, have shown promise in improving the outlook of children with this disease. Enzyme replacement therapy is also being developed.
Question: What is (are) Hemochromatosis type 1 ?
Answer: Hemochromatosis type 1 is a disease in which too much iron builds up in the body.  This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about other types of hereditary hemochromatosis click on the disease names below: Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
Question: What are the symptoms of Hemochromatosis type 1 ?
Answer: What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular 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.