umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Microcephaly brain defect spasticity hypernatremia ?

Answer: What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. 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 metabolism/homeostasis 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 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 are the treatments for Pyoderma gangrenosum ?

Answer: How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here.
Question: What causes Pontocerebellar hypoplasia type 1 ?

Answer: What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. Mutations in RARS2 were also identified in one case with PCH1. In general, there is no known genetic cause for the majority of PCH1 cases and no other genes have been linked to PCH1 yet, with the exception of rare cases associated with TSEN54, RARS2 and VRK1 mutations. In fact, only fifteen families with PCH1 have been published thus far; of these, mutations were only identified in 3 families. Further research on these and other candidate genes in PCH1 is necessary to identify mutations involved in the remaining majority of the PCH1 cases.Specific mutations in other genes have been shown to cause the various other forms of pontocerebellar hypoplasia and include the RARS2, TSEN2, TSEN34, and TSEN54 genes. Mutations in three related genes, TSEN2, TSEN34, and TSEN54, can result in PCH2. TSEN54 gene mutations can also cause PCH4 and PCH5.[2951] Mutations in the RARS2 gene can cause PCH6. The genetic cause of PCH3 is unknown.
Question: What are the symptoms of Paralysis agitans, juvenile, of Hunt ?

Answer: What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. 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 metabolism/homeostasis - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - 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 Pleurisy and Other Pleural Disorders ?

Answer: Pleurisy
                
The main symptom of pleurisy is a sharp or stabbing pain in your chest that gets worse when you breathe in deeply or cough or sneeze.
                
The pain may stay in one place or it may spread to your shoulders or back. Sometimes the pain becomes a fairly constant dull ache.
                
Depending on what's causing the pleurisy, you may have other symptoms, such as:
                
Shortness of breath or rapid, shallow breathing
                
Coughing
                
Fever and chills
                
Unexplained weight loss
                
Pneumothorax
                
The symptoms of pneumothorax include:
                
Sudden, sharp chest pain that gets worse when you breathe in deeply or cough
                
Shortness of breath
                
Chest tightness
                
Easy fatigue (tiredness)
                
A rapid heart rate
                
A bluish tint to the skin caused by lack of oxygen
                
Other symptoms of pneumothorax include flaring of the nostrils; anxiety, stress, and tension; and hypotension (low blood pressure).
                
Pleural Effusion
                
Pleural effusion often has no symptoms.
                
Hemothorax
                
The symptoms of hemothorax often are similar to those of pneumothorax. They include:
                
Chest pain
                
Shortness of breath
                
Respiratory failure
                
A rapid heart rate
                
Anxiety
                
Restlessness
Question: What is (are) Megalencephaly ?

Answer: Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesnt necessarily indicate abnormality. Large head size is passed down through the generations in some families.
Question: What are the genetic changes related to 22q13.3 deletion syndrome ?

Answer: 22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.  A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 22 are lost when the ring chromosome 22 forms. If one of the chromosome break points is at position 22q13.3, people with ring chromosome 22 have similar signs and symptoms as those with a simple deletion.  Researchers are working to identify all of the genes that contribute to the features of 22q13.3 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, SHANK3, is likely to be responsible for many of the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted region probably contribute to the varied features of 22q13.3 deletion syndrome.
Question: What are the genetic changes related to primary sclerosing cholangitis ?

Answer: Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis have an increased risk of developing the condition. It is likely that specific genetic variations increase a person's risk of developing primary sclerosing cholangitis, and then exposure to certain environmental factors triggers the disorder. However, the genetic changes that increase susceptibility and the environmental triggers remain unclear.  There is evidence that variations in certain genes involved in immune function influence the risk of developing primary sclerosing cholangitis. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to be present more often in people with primary sclerosing cholangitis than in people who do not have the disorder. These variations may dysregulate the body's immune response, leading to the inflammation of the bile ducts in people with primary sclerosing cholangitis. However, the mechanism is not well understood. Researchers are also studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing this condition.
Question: What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ?

Answer: 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).  Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year.  Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
Question: What are the symptoms of Cone dystrophy X-linked with tapetal-like sheen ?

Answer: What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. 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 light-adapted electroretinogram - Abnormality of metabolism/homeostasis - Adult onset - Cone/cone-rod dystrophy - Retinal detachment - 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 Pfeiffer Mayer syndrome ?

Answer: What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer 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) Abnormal nasal morphology 90% Abnormality of the pinna 90% Cognitive impairment 90% Optic atrophy 90% Preaxial hand polydactyly 90% Short stature 90% Chorioretinal coloboma 50% Iris coloboma 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 are the symptoms of Apparent mineralocorticoid excess ?

Answer: What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. 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 - Decreased circulating aldosterone level - Decreased circulating renin level - Failure to thrive - Hypertension - Hypertensive retinopathy - Hypokalemia - Metabolic alkalosis - Short stature - Small for gestational age - Variable expressivity - 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: Is Pyruvate carboxylase deficiency inherited ?

Answer: How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.
Question: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ?

Answer: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. 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 - Axonal regeneration - Distal sensory impairment - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Slow progression - Steppage 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 Jejunal atresia ?

Answer: What are the signs and symptoms of Jejunal atresia? Signs and symptoms of jejunal atresia vary but may include: Feeding difficulties Failure to thrive Vomiting bile (a bitter-tasting yellowish-green fluid) Abdominal swelling, especially the upper middle part just below the breast bone Absence of bowel movements after birth The Human Phenotype Ontology provides the following list of signs and symptoms for Jejunal atresia. 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 - Jejunal atresia - 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.