randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of Aniridia absent patella ? 
 What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. 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) Aplasia/Hypoplasia of the iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : information 
 What is (are) Cerebellar degeneration ? 
 Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.
This is a medical question of type : symptoms 
 What are the symptoms of Cerebellar degeneration ? 
 What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration. Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.
This is a medical question of type : causes 
 What causes Cerebellar degeneration ? 
 What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.
This is a medical question of type : inheritance 
 Is Cerebellar degeneration inherited ? 
 Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.
This is a medical question of type : exams and tests 
 How to diagnose Cerebellar degeneration ? 
 How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an option if the disease-causing gene for that particular condition is known. In cerebellar degeneration caused by acquired (non-genetic and non-inherited) conditions or conditions with an unknown genetic cause, imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities found in people with cerebellar degeneration. Is genetic testing available for cerebellar degeneration? Genetic testing is only available for cerebellar degeneration that is caused by an inherited change (mutation) in a disease-causing gene. For example, genetic testing is available for many different genes known to cause spinocerebellar ataxia (SCA) which is one cause of inherited cerebellar degeneration. For more information on genetic testing for SCA, please click here. For many conditions known to cause cerebellar ataxia, the genetic cause is unknown or the condition is acquired (non-genetic and non-inherited). Genetic testing is not an option for people with these conditions.
This is a medical question of type : treatment 
 What are the treatments for Cerebellar degeneration ? 
 How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. In acquired (non-genetic and non-inherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause. For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.
This is a medical question of type : information 
 What is (are) Brachydactyly type B ? 
 Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.
This is a medical question of type : symptoms 
 What are the symptoms of Brachydactyly type B ? 
 What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% Cutaneous finger syndactyly 5% Abnormality of the foot - Aplasia/Hypoplasia of the distal phalanges of the hand - Autosomal dominant inheritance - Broad thumb - Camptodactyly - Delayed cranial suture closure - Delayed eruption of permanent teeth - Hemivertebrae - Hypoplastic sacrum - Joint contracture of the hand - Micropenis - Short long bone - Short middle phalanx of finger - Syndactyly - Thoracolumbar scoliosis - Type B brachydactyly - Ventricular septal defect - Vertebral fusion - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : inheritance 
 Is Brachydactyly type B inherited ? 
 How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children.
This is a medical question of type : symptoms 
 What are the symptoms of Holzgreve syndrome ? 
 What are the signs and symptoms of Holzgreve syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Holzgreve 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) Aplasia/Hypoplasia of the lungs 90% Cleft palate 90% Hand polydactyly 90% Intrauterine growth retardation 90% Oligohydramnios 90% Renal hypoplasia/aplasia 90% Abnormal vertebral ossification 50% Abnormality of calvarial morphology 50% Abnormality of the mesentery 50% Abnormality of the metacarpal bones 50% Abnormality of the ribs 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the tongue 50% Bifid tongue 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Macrotia 50% Single umbilical artery 50% Webbed neck 50% Autosomal recessive inheritance - Cleft upper lip - Hypoplastic left heart - Renal agenesis - Renal hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : symptoms 
 What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ? 
 What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This is a medical question of type : information 
 What is (are) Dihydrolipoamide dehydrogenase deficiency ? 
 Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; and various other health issues. Liver problems can range from hepatomegaly to life-threatening liver failure. Symptoms often occur in episodes that may be triggered by illness or other stresses on the body. Many affected infants do not survive the first few years of life; those who survive through early childhood often have growth delay and intellectual disability. Some with onset later in childhood may have neurological dysfunction with normal cognitive development. DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner.
This is a medical question of type : causes 
 What causes Dihydrolipoamide dehydrogenase deficiency ? 
 What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work together (enzyme complexes). These enzyme complexes are involved in breaking down amino acids commonly found in protein-rich foods, and in other reactions that help to convert energy from food into a form that our cells can use. Mutations in the DLD gene impair the function of DLD, preventing the 3 enzyme complexes from functioning properly. This causes a build-up of molecules that are normally broken down, which in turn leads to tissue damage, lactic acidosis and other chemical imbalances. The brain is especially sensitive to the buildup of molecules and lack of cellular energy, which is why there are neurological problems associated with DLD deficiency.
This is a medical question of type : inheritance 
 Is Dihydrolipoamide dehydrogenase deficiency inherited ? 
 How is dihydrolipoamide dehydrogenase deficiency inherited? Dihydrolipoamide dehydrogenase (DLD) deficiency is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% to be unaffected and not be a carrier.
This is a medical question of type : treatment 
 What are the treatments for Dihydrolipoamide dehydrogenase deficiency ? 
 How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathways vary depending on the specific mutation(s) each affected person has. Unfortunately, the treatments that have been attempted in children with the early-onset neurologic form do not appear to significantly alter the course of the disease. Even with treatment, children often do not survive infancy or have varying degrees of chronic neurologic impairment if they survive the initial episode. Depending on individual enzyme complex deficiencies, treatment may involve certain dietary restrictions or certain diets; use of medical foods; and/or supplementation of specific amino acids or other substances. There is limited data for the chronic management of people with the primarily hepatic (liver-related) form of the disease. Management typically involves supportive therapy during times of acute liver injury or failure, and may include nutritional support; IV glucose for hypoglycemia; correction of metabolic acidosis; correction of coagulopathy; and avoidance of liver-toxic medications. More detailed information about the management of DLD deficiency can be viewed on the GeneReviews Web site. GeneReviews is intended for use by genetics professionals. Those not familiar with the principles discussed on the GeneReviews Web site are encouraged to speak with a genetics professional or other healthcare provider regarding information of interest.
This is a medical question of type : information 
 What is (are) Nephrogenic diabetes insipidus ? 
 Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.