umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Leukoencephalopathy with vanishing white matter ?

Answer: What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. 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) Juvenile onset 33% Macrocephaly 33% Blindness 7.5% Autosomal recessive inheritance - Cerebral hypomyelination - Cessation of head growth - CNS demyelination - Decreased serum progesterone - Delusions - Developmental regression - Dysarthria - Emotional lability - Lethargy - Leukoencephalopathy - Memory impairment - Muscular hypotonia - Optic atrophy - Personality changes - Premature ovarian failure - Primary gonadal insufficiency - Secondary amenorrhea - Seizures - Spasticity - Unsteady gait - 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 Kohlschutter Tonz syndrome ?

Answer: What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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 dental color 90% Abnormality of dental enamel 90% Developmental regression 90% EEG abnormality 90% Hypertonia 90% Seizures 90% Hypohidrosis 50% Hydrocephalus 7.5% Short stature 7.5% Amelogenesis imperfecta - Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Dementia - Epileptic encephalopathy - Hypoplasia of dental enamel - Hypsarrhythmia - Intellectual disability, severe - Spasticity - Variable expressivity - Ventriculomegaly - 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 Hemolytic uremic syndrome ?

Answer: What are the signs and symptoms of Hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic 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) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - 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 are the symptoms of Ehlers-Danlos syndrome with periventricular heterotopia ?

Answer: What are the signs and symptoms of Ehlers-Danlos syndrome with periventricular heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome with periventricular heterotopia. 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 coagulation 90% Hernia 90% Pyloric stenosis 90% Scoliosis 90% Abnormality of the aortic valve 50% Cognitive impairment 50% Joint hypermobility 50% Morphological abnormality of the central nervous system 50% Patent ductus arteriosus 50% Seizures 50% Thin skin 50% Dilatation of the ascending aorta 7.5% Patellar dislocation 7.5% Shoulder dislocation 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: How to prevent La Crosse Encephalitis ?

Answer: There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. 
 
 - Use repellent: When outdoors, use insect repellent containing DEET, picaridin, IR3535 or oil of lemon eucalyptus on exposed skin as well as on clothing (mosquitoes will bite through thin cloth). 
   
   - Permethrin is a repellent/insecticide that can be applied to clothing and will provide excellent protection through multiple washes. You can treat clothing yourself (always follow the directions on the package!) or purchase pre-treated clothing. For best protection it is still necessary to apply other repellent to exposed skin.  
    
 - Wear protective clothing: Wear long sleeves, pants and socks when weather permits. 
 - Avoid peak biting hours: Avoid outdoor activity or use protective measures when mosquitoes are active (Aedes triseriatus mosquitoes are most active during daytime—from dawn until dusk). 
 - Install and repair screens: Have secure, intact screens on windows and doors to keep mosquitoes out.  
 - Keep mosquitoes from laying eggs near you: Mosquitoes can lay eggs even in small amounts of standing water. While Aedes triseriatus prefers treeholes, it will also lay eggs in artificial containers. You can fill treeholes in/around your yard with soil. Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets, barrels, and tires. Change the water in pet dishes and replace the water in bird baths weekly. Drill holes in tire swings so water drains out. Empty children's wading pools and store on their side after use.
Question: What are the symptoms of Thrombocytopenia ?

Answer: Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding).
                
Signs and symptoms can appear suddenly or over time. Mild thrombocytopenia often has no signs or symptoms. Many times, it's found during a routine blood test.
                
Check with your doctor if you have any signs of bleeding. Severe thrombocytopenia can cause bleeding in almost any part of the body. Bleeding can lead to a medical emergency and should be treated right away.
                
External bleeding usually is the first sign of a low platelet count. External bleeding may cause purpura (PURR-purr-ah) or petechiae (peh-TEE-key-ay). Purpura are purple, brown, and red bruises. This bruising may happen easily and often. Petechiae are small red or purple dots on your skin.
                
Purpura and Petechiae
                

                
Other signs of external bleeding include:
                
Prolonged bleeding, even from minor cuts
                
Bleeding or oozing from the mouth or nose, especially nosebleeds or bleeding from brushing your teeth
                
Abnormal vaginal bleeding (especially heavy menstrual flow)
                
A lot of bleeding after surgery or dental work also might suggest a bleeding problem.
                
Heavy bleeding into the intestines or the brain (internal bleeding) is serious and can be fatal. Signs and symptoms include:
                
Blood in the urine or stool or bleeding from the rectum. Blood in the stool can appear as red blood or as a dark, tarry color. (Taking iron supplements also can cause dark, tarry stools.)
                
Headaches and other neurological symptoms. These problems are very rare, but you should discuss them with your doctor.
Question: What are the genetic changes related to nephrogenic diabetes insipidus ?

Answer: The hereditary form of nephrogenic diabetes insipidus can be caused by mutations in at least two genes. About 90 percent of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene. Most of the remaining 10 percent of cases are caused by mutations in the AQP2 gene. Both of these genes provide instructions for making proteins that help determine how much water is excreted in urine.  The acquired form of nephrogenic diabetes insipidus can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract.  The kidneys filter the blood to remove waste and excess fluid, which are stored in the bladder as urine. The balance between fluid intake and urine excretion is controlled by a hormone called vasopressin or antidiuretic hormone (ADH). ADH directs the kidneys to concentrate urine by reabsorbing some of the water into the bloodstream. Normally, when a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), increased levels of ADH in the blood tell the kidneys to make less urine. When fluid intake is adequate, lower levels of ADH tell the kidneys to make more urine.  Mutations in the AVPR2 or AQP2 genes prevent the kidneys from responding to signals from ADH. Chronic kidney disease, certain drugs, and other factors can also impair the kidneys' ability to respond to this hormone. As a result, the kidneys do not reabsorb water as they should, and the body makes excessive amounts of urine. These problems with water balance are characteristic of nephrogenic diabetes insipidus.
Question: What is (are) 2-hydroxyglutaric aciduria ?

Answer: 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).  The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.  L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.  Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.
Question: What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ?

Answer: What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - 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 are the symptoms of Hypomelia mullerian duct anomalies ?

Answer: What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. 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 dermatoglyphics 50% Abnormality of female internal genitalia 50% Abnormality of the elbow 50% Abnormality of the humerus 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Hypoplasia of penis 50% Microcephaly 50% Micromelia 50% Short stature 50% Split hand 50% Hypothyroidism 7.5% Postaxial hand polydactyly 7.5% Strabismus 7.5% Autosomal dominant inheritance - Longitudinal vaginal septum - Uterus didelphys - 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 Preaxial polydactyly type 2 ?

Answer: What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 2. 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) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - 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 Merlob Grunebaum Reisner syndrome ?

Answer: What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner 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) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - 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.