Timbrt/Liver-Text-OA huggingface dataset:
Question: What are the symptoms of Congenital generalized lipodystrophy type 4 ?
Answer: What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy 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) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - 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 are the symptoms of Diffuse palmoplantar keratoderma, Bothnian type ?
Answer: What are the signs and symptoms of Diffuse palmoplantar keratoderma, Bothnian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse palmoplantar keratoderma, Bothnian type. 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) Palmoplantar keratoderma 90% Abnormal blistering of the skin 50% Pruritus 50% Skin ulcer 50% Autosomal dominant inheritance - Diffuse palmoplantar keratoderma - 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) Fibrolamellar carcinoma ?
Answer: Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection.
Question: What are the symptoms of Fibrolamellar carcinoma ?
Answer: What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain Weight loss Malaise Abdominal mass Hepatomegaly    The Human Phenotype Ontology provides the following list of signs and symptoms for Fibrolamellar carcinoma. 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 Fibrolamellar carcinoma ?
Answer: What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis. However, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. Recent research suggests that a deletion on chromosome 19 may play a key role in the formation of FLC. This deletion is called a "somatic mutation" since it is only present in the cells of the liver. Somatic mutations accumulate during a person's lifetime and are not inherited or passed on to future generations.
Question: How to diagnose Fibrolamellar carcinoma ?
Answer: How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC. Medscape Reference's Web site offers more specific information on the diagnosis of FLC. Please click on the link to access this resource.
Question: What are the treatments for Fibrolamellar carcinoma ?
Answer: How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be considered if surgical resection isn't an option. For example, liver transplantation may be considered in patients who are not candidates for partial resection (removing a portion of the liver). Medscape Reference's Web site offers more specific information on the treatment and management of FLC. Please click the link to access this resource.
Question: What causes Joubert syndrome ?
Answer: What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems.
Question: What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ?
Answer: What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. 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 ureter 90% Hypoplasia of penis 90% Oligohydramnios 90% Respiratory insufficiency 90% Sandal gap 90% Abnormality of coagulation 50% Aplasia/Hypoplasia of the lungs 50% Ascites 50% Depressed nasal ridge 50% Displacement of the external urethral meatus 50% Microcephaly 50% Muscular hypotonia 50% Narrow mouth 50% Polyhydramnios 50% Renal hypoplasia/aplasia 50% Splenomegaly 50% Thin vermilion border 50% Abnormal external genitalia - Abnormality of earlobe - Deep plantar creases - Flat occiput - Hemolytic anemia - Hepatosplenomegaly - 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 Bone dysplasia lethal Holmgren type ?
Answer: What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. 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 femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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 Nephropathic cystinosis ?
Answer: What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. 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 voice - Autosomal recessive inheritance - Cerebral atrophy - Corneal crystals - Decreased plasma carnitine - Dehydration - Delayed puberty - Delayed skeletal maturation - Diabetes mellitus - Dysphagia - Elevated intracellular cystine - Episodic metabolic acidosis - Exocrine pancreatic insufficiency - Failure to thrive in infancy - Frontal bossing - Generalized aminoaciduria - Genu valgum - Glycosuria - Hepatomegaly - Hypohidrosis - Hyponatremia - Hypophosphatemic rickets - Hypopigmentation of hair - Hypopigmentation of the skin - Male infertility - Metaphyseal widening - Microscopic hematuria - Myopathy - Nephrolithiasis - Photophobia - Pigmentary retinopathy - Polydipsia - Polyuria - Primary hypothyroidism - Progressive neurologic deterioration - Proteinuria - Rachitic rosary - Recurrent corneal erosions - Reduced visual acuity - Renal Fanconi syndrome - Renal insufficiency - Retinal pigment epithelial mottling - Short stature - Skeletal muscle atrophy - Splenomegaly - Visual impairment - 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 Cold urticaria ?
Answer: What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis.
Question: What are the symptoms of Osteopetrosis autosomal recessive 3 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 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) Abnormality of epiphysis morphology 90% Abnormality of the renal tubule 90% Anemia 90% Aseptic necrosis 90% Bone pain 90% Cognitive impairment 90% Genu valgum 90% Hepatomegaly 90% Increased bone mineral density 90% Recurrent fractures 90% Reduced bone mineral density 90% Splenomegaly 90% Abnormality of dental morphology 50% Carious teeth 50% Cerebral calcification 50% Mandibular prognathia 50% Peripheral neuropathy 50% Thrombocytopenia 50% Optic atrophy 7.5% Visual impairment 7.5% Autosomal recessive inheritance - Basal ganglia calcification - Cranial hyperostosis - Dental malocclusion - Diaphyseal sclerosis - Distal renal tubular acidosis - Elevated serum acid phosphatase - Extramedullary hematopoiesis - Hepatosplenomegaly - Intellectual disability - Optic nerve compression - Osteopetrosis - Periodic hypokalemic paresis - Short stature - Visual loss - 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 Triploidy ?
Answer: What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. 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 chromosome segregation 90% Abnormality of the fontanelles or cranial sutures 90% Cryptorchidism 90% Decreased skull ossification 90% Displacement of the external urethral meatus 90% Hypertelorism 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Wide mouth 90% Abnormality of the tongue 50% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cleft palate 50% Finger syndactyly 50% Hepatomegaly 50% Iris coloboma 50% Narrow chest 50% Non-midline cleft lip 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the cardiac septa 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pancreas 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Macrocephaly 7.5% Meningocele 7.5% Narrow mouth 7.5% Short neck 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 is (are) Hemophagocytic lymphohistiocytosis ?
Answer: Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition.
Question: What is (are) Hereditary fructose intolerance ?
Answer: Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.