umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Pseudohypoparathyroidism type 1A ?

Answer: What are the signs and symptoms of Pseudohypoparathyroidism type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1A. 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 - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - 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 Polyglucosan body disease, adult ?

Answer: What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. 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 pyramidal signs 90% Abnormal renal physiology 90% Cognitive impairment 90% Erectile abnormalities 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Peripheral neuropathy 90% Behavioral abnormality 50% Skin ulcer 50% Abnormality of extrapyramidal motor function 7.5% Developmental regression 7.5% EMG abnormality 7.5% Incoordination 7.5% Limitation of joint mobility 7.5% Abnormal upper motor neuron morphology - Abnormality of metabolism/homeostasis - Adult onset - Autosomal recessive inheritance - Distal sensory impairment - Paresthesia - Slow progression - Tetraparesis - 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 Lipidosis with triglycerid storage disease ?

Answer: What are the signs and symptoms of Lipidosis with triglycerid storage disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipidosis with triglycerid storage disease. 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 lipid metabolism 90% Dry skin 90% Ichthyosis 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Cognitive impairment 50% EMG abnormality 50% Hepatomegaly 50% Muscle weakness 50% Myopathy 50% Ptosis 50% Retinopathy 50% Short stature 50% Skeletal muscle atrophy 50% Abnormality of the aortic valve 7.5% Cataract 7.5% Cranial nerve paralysis 7.5% Diabetes mellitus 7.5% Incoordination 7.5% Nystagmus 7.5% Opacification of the corneal stroma 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 Lysinuric protein intolerance ?

Answer: What are the signs and symptoms of Lysinuric protein intolerance? The Human Phenotype Ontology provides the following list of signs and symptoms for Lysinuric protein intolerance. 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) Psychotic episodes 5% Alveolar proteinosis - Aminoaciduria - Anemia - Autosomal recessive inheritance - Cutis laxa - Delayed skeletal maturation - Diarrhea - Failure to thrive - Fine hair - Hemophagocytosis - Hepatomegaly - Hyperammonemia - Hyperextensible skin - Increased serum ferritin - Infantile onset - Leukopenia - Malnutrition - Muscle weakness - Muscular hypotonia - Nausea - Oroticaciduria - Osteoporosis - Pancreatitis - Phenotypic variability - Respiratory insufficiency - Short stature - Skeletal muscle atrophy - Sparse hair - Splenomegaly - Stage 5 chronic kidney disease - Thrombocytopenia - Truncal obesity - 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 are the symptoms of Systemic capillary leak syndrome ?

Answer: What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak 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) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 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 Holes in the Heart ?

Answer: Atrial Septal Defect
                
Many babies who are born with atrial septal defects (ASDs) have no signs or symptoms. However, as they grow, these children may be small for their age. 
                
When signs and symptoms do occur, a heart murmur is the most common. A heart murmur is an extra or unusual sound heard during a heartbeat.
                
Often, a heart murmur is the only sign of an ASD. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs. Doctors can listen to heart murmurs and tell whether they're harmless or signs of heart problems.
                
If a large ASD isn't repaired, the extra blood flow to the right side of the heart can damage the heart and lungs and cause heart failure. This generally doesn't occur until adulthood. Signs and symptoms of heart failure include:
                
Fatigue (tiredness)
                
Tiring easily during physical activity
                
Shortness of breath
                
A buildup of blood and fluid in the lungs
                
Swelling in the ankles, feet, legs, abdomen, and veins in the neck
                
Ventricular Septal Defect
                
Babies born with ventricular septal defects (VSDs) usually have heart murmurs. Murmurs may be the first and only sign of a VSD. Heart murmurs often are present right after birth in many infants. However, the murmurs may not be heard until the babies are 6 to 8 weeks old.
                
Most newborns who have VSDs don't have heart-related symptoms. However, babies who have medium or large VSDs can develop heart failure. Signs and symptoms of heart failure usually occur during the baby's first 2 months of life.
                
The signs and symptoms of heart failure due to VSD are similar to those listed above for ASD, but they occur in infancy.
                
A major sign of heart failure in infancy is poor feeding and growth. VSD signs and symptoms are rare after infancy. This is because the defects either decrease in size on their own or they're repaired.
Question: What is (are) Coronary Microvascular Disease ?

Answer: Coronary microvascular disease (MVD) is heart disease that affects the tiny coronary (heart) arteries. In coronary MVD, the walls of the heart's tiny arteries are damaged or diseased.
                
Coronary MVD is different from traditional coronary heart disease (CHD), also called coronary artery disease. In CHD, a waxy substance called plaque (plak) builds up in the large coronary arteries.
                
Plaque narrows the heart's large arteries and reduces the flow of oxygen-rich blood to your heart muscle. The buildup of plaque also makes it more likely that blood clots will form in your arteries. Blood clots can mostly or completely block blood flow through a coronary artery.
                
In coronary MVD, however, the heart's tiny arteries are affected. Plaque doesn't create blockages in these vessels as it does in the heart's large arteries.
                
Coronary Microvascular Disease
                

                
Overview
                
Both men and women who have coronary microvascular disease often have diabetes or high blood pressure. Some people who have coronary microvascular disease may have inherited heart muscle diseases.
                
Diagnosing coronary microvascular disease has been a challenge for doctors. Standard tests used to diagnose coronary heart disease arent designed to detect coronary microvascular disease. More research is needed to find the best diagnostic tests and treatments for thedisease.
                
Outlook
                
Most of what is known about coronary MVD comes from the National Heart, Lung, and Blood Institute's Wise study (Women's Ischemia Syndrome Evaluation).
                
The WISE study started in 1996. The goal of the study was to learn more about how heart disease develops in women.
                
Currently, research is ongoing to learn more about the role of hormones in heart disease and to find better ways to diagnose coronary MVD.
                
Studies also are under way to learn more about the causes of coronary MVD, how to treat the disease, and the expected health outcomes for people with coronary MVD.
Question: What is (are) glycogen storage disease type III ?

Answer: Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.  GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.  Beginning in infancy, individuals with any type of GSDIII may have low blood sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver.  Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.
Question: What are the symptoms of Norum disease ?

Answer: What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hemolytic anemia, and proteinuria are other common findings. This condition may also present with: Papilledema (swelling of the optic nerve) with impaired ocular blood supply, leading to functional visual loss Signs of renal insufficiency, including hypertension Signs of atherosclerosis Xanthelasma (in end-stage disease) Hepatomegaly Splenomegaly Lymphadenopathy The Human Phenotype Ontology provides the following list of signs and symptoms for Norum disease. 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 - Hemolytic anemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Normochromic anemia - Opacification of the corneal stroma - Proteinuria - Renal insufficiency - 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 the risk for my pet for Rabies ?

Answer: Any animal bitten or scratched by either a wild, carnivorous mammal or a bat that is not available for testing should be regarded as having been exposed to rabies.
  
Unvaccinated dogs, cats, and ferrets exposed to a rabid animal should be euthanized immediately. If the owner is unwilling to have this done, the animal should be placed in strict isolation for 6 months and vaccinated 1 month before being released.
  
Animals with expired vaccinations need to be evaluated on a case-by-case basis. Dogs and cats that are currently vaccinated are kept under observation for 45 days.
  
Small mammals such as squirrels, rats, mice, hamsters, guinea pigs, gerbils, chipmunks, rabbits, and hares are almost never found to be infected with rabies and have not been known to cause rabies among humans in the United States. Bites by these animals are usually not considered a risk of rabies unless the animal was sick or behaving in any unusual manner and rabies is widespread in your area.
  
However, from 1985 through 1994, woodchucks accounted for 86% of the 368 cases of rabies among rodents reported to CDC. Woodchucks or groundhogs (Marmota monax) are the only rodents that may be frequently submitted to state health department because of a suspicion of rabies. In all cases involving rodents, the state or local health department should be consulted before a decision is made to initiate postexposure prophylaxis (PEP).
  Is there rabies in my area?
  
Each state collects specific information about rabies, and is the best source for information on rabies in your area. In addition, the CDC publishes rabies surveillance data every year for the United States. The report, entitled Rabies Surveillance in the United States, contains information about the number of cases of rabies reported to CDC during the year, the animals reported rabid, maps showing where cases were reported for wild and domestic animals, and distribution maps showing outbreaks of rabies associated with specific animals.
Question: What are the genetic changes related to multiple pterygium syndrome ?

Answer: Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits. The  subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the  subunit is replaced by another subunit to form adult AChR protein. The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth.  CHRNG gene mutations result in an impaired or missing  subunit. The severity of the CHRNG gene mutation influences the severity of the condition. Typically, mutations that prevent the production of any  subunit will result in the lethal type, while mutations that allow the production of some  subunit will lead to the Escobar type. Without a functional  subunit, the fetal AChR protein cannot be assembled or properly placed in the muscle cell membrane. As a result, the fetal AChR protein cannot function and the communication between nerve cells and muscle cells in the developing fetus is impaired. A lack of signaling between nerve and muscle cells leads to akinesia and pterygium before birth, and may result in many of the other signs and symptoms of multiple pterygium syndrome.  Mutations in other genes, most providing instructions for other AChR protein subunits, have been found to cause multiple pterygium syndrome. Changes in these genes can cause both the lethal and Escobar types of this condition, although they account for only a small number of cases. Some people with multiple pterygium syndrome do not have an identified mutation in any of the known genes associated with this condition. The cause of the disease in these individuals is unknown.