Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Neutropenia lethal congenital with eosinophilia ?
Answer: What are the signs and symptoms of Neutropenia lethal congenital with eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia lethal congenital with eosinophilia. 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 - Congenital neutropenia - Eosinophilia - Neonatal death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Syringoma ?
Answer: Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality. They are found more commonly in Caucasians, and in females at puberty or near middle-age.
Question: What are the symptoms of Syringoma ?
Answer: What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. 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 skin - 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.
Question: What are the treatments for Syringoma ?
Answer: How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider.
Question: What is (are) Human T-cell leukemia virus type 1 ?
Answer: Human T-cell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-1 and it is considered a lifelong condition; however, most (95%) infected people remain asymptomatic (show no symptoms) throughout life.
Question: What causes Human T-cell leukemia virus type 1 ?
Answer: What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-1 develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.
Question: How to diagnose Human T-cell leukemia virus type 1 ?
Answer: How is human T-cell leukemia virus, type 1 diagnosed? Human T-cell leukemia virus, type 1 (HTLV-1) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-1 is often never suspected or diagnosed since most people (95%) never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-1-associated condition such as adult T-cell leukemia (ATL) or HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).
Question: What are the treatments for Human T-cell leukemia virus type 1 ?
Answer: How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.
Question: What is (are) Aicardi-Goutieres syndrome type 2 ?
Answer: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
Question: What are the symptoms of Aicardi-Goutieres syndrome type 2 ?
Answer: What are the signs and symptoms of Aicardi-Goutieres syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome 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) Dystonia 5% Microcephaly 5% Spastic paraplegia 5% Autosomal recessive inheritance - Basal ganglia calcification - Cerebral atrophy - Chronic CSF lymphocytosis - Encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Ovarian small cell carcinoma ?
Answer: Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy.
Question: What are the treatments for Ovarian small cell carcinoma ?
Answer: What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. Specifically, platinum and etoposide based chemotherapy is typically used to treat ovarian small cell carcinoma.
Question: What is (are) Pigmented villonodular synovitis ?
Answer: Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is grossly unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.
Question: What causes Pigmented villonodular synovitis ?
Answer: What causes pigmented villonodular synovitis? The exact cause of pigmented villonodular synovitis (PVNS) is unknown. Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual. The association between a history of trauma and the development of PVNS is unclear. One study found that 56% of individuals with PVNS had a history of previous trauma, while other studies have found a much lower incidence. There have been studies suggesting that PVNS could be caused by specific genetic changes in the cells lining the joint. More studies are needed to research this association.
Question: How to diagnose Pigmented villonodular synovitis ?
Answer: How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan findings are additionally often diagnostic, though they might not show the extent of the disease. Other methods that might be utilized in the diagnostic process include joint aspiration, in which a needle is used to remove fluid from the joint and a biopsy, in which a small operation is completed to obtain a tissue sample.
Question: What are the treatments for Pigmented villonodular synovitis ?
Answer: How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. Radiation therapy is sometimes used to treat this condition if surgery is not an option, or if the condition returns (recurs) after an initial surgery.
Question: What are the symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ?
Answer: What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. 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 eyelashes 90% Cognitive impairment 90% Cryptorchidism 90% EEG abnormality 90% Hypoplasia of penis 90% Microcephaly 90% Obesity 90% Sloping forehead 90% Thick lower lip vermilion 90% Attention deficit hyperactivity disorder 50% Downturned corners of mouth 50% Full cheeks 50% Hyperreflexia 50% Hypertonia 50% Muscular hypotonia 50% Nystagmus 50% Reduced number of teeth 50% Seizures 50% Talipes 50% Tapered finger 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 causes Cerebrotendinous xanthomatosis ?
Answer: What causes cerebrotendinous xanthomatosis? Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene. This condition is inherited in an autosomal recessive pattern.
Question: How to diagnose Cerebrotendinous xanthomatosis ?
Answer: Is genetic testing available for cerebrotendinous xanthomatosis? Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition. How is cerebrotendinous xanthomatosis diagnosed? Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. Individuals with cerebrotendinous xanthomatosis have high levels of cholestanol in their blood. Genetic testing of the CYP27A1 gene is also available and can detect mutations in about 98% of patients.
Question: What are the treatments for Cerebrotendinous xanthomatosis ?
Answer: How might cerebrotendinous xanthomatosis be treated? Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can induce muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.
Question: What are the symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency ?
Answer: What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune deficiency. 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) Dysgammaglobulinemia - Ectodermal dysplasia - Immunodeficiency - Recurrent infections - X-linked recessive 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.
Question: What is (are) Tracheoesophageal fistula ?
Answer: Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%.
Question: What are the symptoms of Tracheoesophageal fistula ?
Answer: What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. 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) Esophageal atresia - Tracheoesophageal fistula - 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 Tracheoesophageal fistula inherited ?
Answer: Is tracheoesophageal fistula inherited? In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). However, in most isolated cases, no specific genetic changes or environmental factors have been proven to cause the condition. When TEF occurs as a feature of a specific genetic syndrome or chromosome abnormality, it may follow the inheritance pattern and recurrence risk for the underlying condition. In these cases, it may be caused by changes in single genes or chromosomes, or it may be multifactorial.
Question: What is (are) X-linked congenital stationary night blindness ?
Answer: X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.
Question: What are the symptoms of X-linked congenital stationary night blindness ?
Answer: What are the signs and symptoms of X-linked congenital stationary night blindness? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked congenital stationary night blindness. 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) Congenital stationary night blindness - Hemeralopia - Severe Myopia - X-linked recessive 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.