Timbrt/Liver-Text-OA huggingface dataset:
Question: What are the symptoms of Severe combined immunodeficiency, atypical ?
Answer: What are the signs and symptoms of Severe combined immunodeficiency, atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe combined immunodeficiency, atypical. 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 - Diarrhea - Eczematoid dermatitis - Failure to thrive - Hepatomegaly - Panhypogammaglobulinemia - Pneumonia - Recurrent candida infections - Splenomegaly - 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) Light chain deposition disease ?
Answer: Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make  too many light chains which get deposited in many different tissues and organs of the body. While LCDD can occur in any organ, the kidneys are always involved. Deposits of light chains can also occur in the liver, heart, small intestine, spleen, skin, nervous system and bone marrow. Additionally, about 50-60% of patients with LCDD have multiple myeloma and 17% have a disease called monoclonal gammopathy of unknown significance (MGUS). Early signs and symptoms of light chain deposition disease may include protein in the urine, high blood pressure, decreased kidney function, and nephrotic syndrome. The goal of treatment in patients with LCDD is to stop/decrease the production of light chains and damage to organs. Treatment options can include: autologous stem cell transplantation; a drug called Bortezomib; a class of drugs called immunomodulatory drugs; and kidney transplant.
Question: What are the symptoms of Meckel syndrome type 3 ?
Answer: What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 3. 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) Cleft palate 5% Dandy-Walker malformation 5% Hydrocephalus 5% Autosomal recessive inheritance - Bile duct proliferation - Encephalocele - Hepatic fibrosis - Multicystic kidney dysplasia - Polydactyly - Postaxial hand polydactyly - 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) Ornithine transcarbamylase deficiency ?
Answer: Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed.
Question: What causes Ornithine transcarbamylase deficiency ?
Answer: What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In OTC deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so OTC deficiency causes neurological problems as well as eventual damage to the liver.
Question: What is (are) Hepatocellular carcinoma, childhood ?
Answer: Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.
Question: What are the symptoms of Hepatocellular carcinoma, childhood ?
Answer: What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. 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 - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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 Hepatocellular carcinoma, childhood ?
Answer: What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease.  Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease.  Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.
Question: What are the symptoms of Mantle cell lymphoma ?
Answer: What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Mantle cell lymphoma. 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) Hematological neoplasm 90% Lymphadenopathy 90% Anorexia 50% Splenomegaly 50% Weight loss 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Primary gastrointestinal melanoma ?
Answer: Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.
Question: What is (are) Hardikar syndrome ?
Answer: Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. Only four cases have been reported in the medical literature. The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.
Question: What are the symptoms of Hardikar syndrome ?
Answer: What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar 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 retinal pigmentation 90% Abnormality of the cardiovascular system 90% Abnormality of the ureter 90% Cleft palate 90% Extrahepatic biliary duct atresia 90% Non-midline cleft lip 90% Chorioretinal degeneration 5% Blepharophimosis - Cholangitis - Cleft upper lip - Coarctation of aorta - Congenital onset - Elevated hepatic transaminases - Failure to thrive - Growth delay - Hepatomegaly - Hydronephrosis - Hydroureter - Hyperbilirubinemia - Intestinal malrotation - Jaundice - Patent ductus arteriosus - Patent foramen ovale - Pigmentary retinopathy - Portal hypertension - Pruritus - Pulmonary artery stenosis - Recurrent urinary tract infections - Splenomegaly - Sporadic - Ureteral stenosis - Vaginal atresia - Ventricular septal defect - Vesicoureteral reflux - 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 Laron syndrome ?
Answer: What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. When growth hormone is bound to the growth hormone receptors on liver cells, specifically, insulin-like growth factor I (another important growth-promoting hormone) is produced. Mutations in GHR impair the function of growth hormone receptors which interferes with their ability to bind growth hormone. This disrupts normal growth and development of cells and prevents the production of insulin-like growth factor I which causes the many signs and symptoms of Laron syndrome.
Question: What is (are) Congenital disorders of glycosylation ?
Answer: Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.
Question: What are the symptoms of Congenital disorders of glycosylation ?
Answer: What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. 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 adipose tissue 90% Abnormality of coagulation 90% Abnormality of immune system physiology 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Aplasia/Hypoplasia of the nipples 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Elevated hepatic transaminases 90% Strabismus 90% Abnormality of the genital system 50% Abnormality of the pericardium 50% Broad forehead 50% Hypertrophic cardiomyopathy 50% Hypoglycemia 50% Seizures 50% Abnormality of the intestine 7.5% Ascites 7.5% Nephropathy 7.5% Peripheral neuropathy 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 Aicardi-Goutieres syndrome type 1 ?
Answer: What are the signs and symptoms of Aicardi-Goutieres syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome 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) Hepatomegaly 5% Splenomegaly 5% Abnormality of extrapyramidal motor function - Acrocyanosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebral atrophy - Chilblain lesions - Chronic CSF lymphocytosis - Deep white matter hypodensities - Dystonia - Elevated hepatic transaminases - Feeding difficulties in infancy - Fever - Hepatosplenomegaly - Increased CSF interferon alpha - Intellectual disability, profound - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Multiple gastric polyps - Muscular hypotonia of the trunk - Nystagmus - Petechiae - Poor head control - Progressive encephalopathy - Progressive microcephaly - Prolonged neonatal jaundice - Purpura - Seizures - Spasticity - Strabismus - 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 causes Leukonychia totalis ?
Answer: What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern. These inherited forms can be caused by mutations in the PLCD1 gene. In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilaris; pili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells). In a few cases, the cause of leukonychia is unknown (idiopathic).
Question: What is (are) X-linked sideroblastic anemia ?
Answer: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.