Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Meesmann corneal dystrophy ?
Answer: What are the signs and symptoms of Meesmann corneal dystrophy? Patients are usually asymptomatic until adulthood when rupture of the tiny cysts on the cornea cause recurrent erosions. Symptoms may include light sensitivity, contact lens intolerance, redness, pain, and occasionally blurred vision (i.e., irregular corneal astigmatism). Some people with Meesman corneal dystrophy experience no symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Meesmann corneal dystrophy. 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 - Corneal dystrophy - Nonprogressive - Punctate opacification of the cornea - 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 Meesmann corneal dystrophy ?
Answer: What causes Meesmann corneal dystrophy? Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function. Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion.
Question: What are the treatments for Meesmann corneal dystrophy ?
Answer: How might Meesmann corneal dystrophy be treated? Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). Hypertonic saline may be given if symptoms get worse when a person wakes up. Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA. This therapy may be able to silence the mutated gene that causes Meesman corneal dystrophy.
Question: What is (are) Congenital pulmonary lymphangiectasia ?
Answer: Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a network of tubular channels that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph, which is made up of proteins, fats and certain white blood cells called lymphocytes, accumulates in the tiny spaces between tissue cells. Infants with congenital pulmonary lymphangiectasia often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis, a condition caused by low levels of circulating oxygen in the blood which causes the skin to have a bluish tint. The exact cause of the condition is unknown. Congenital pulmonary lymphangiectasia can occur as a primary or secondary disorder. Primary congenital pulmonary lymphangiectasia can occur as an isolated defect within the lungs or as part of a a generalized form of lymphatic vessel malformation that affects the entire body. Secondary congenital pulmonary lymphangiectasia occurs secondary to another condition, often involving the heart.
Question: What are the symptoms of ICF syndrome ?
Answer: What are the signs and symptoms of ICF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ICF 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) Decreased antibody level in blood 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neutrophils 50% Anemia 50% Cellular immunodeficiency 50% Cognitive impairment 50% Communicating hydrocephalus 50% Depressed nasal bridge 50% Lymphopenia 50% Macrocephaly 50% Malabsorption 50% Abnormality of the tongue 7.5% Epicanthus 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Umbilical hernia 7.5% Anteverted nares - Autosomal recessive inheritance - Bronchiectasis - Chronic bronchitis - Diarrhea - Failure to thrive - Flat face - Immunodeficiency - Intellectual disability - Low-set ears - Macroglossia - Pneumonia - Protruding tongue - Sinusitis - T lymphocytopenia - 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) Schindler disease type 1 ?
Answer: Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance.
Question: What causes Schindler disease type 1 ?
Answer: What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.
Question: Is Schindler disease type 1 inherited ?
Answer: How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically so not show signs and symptoms of the condition.
Question: What is (are) Diffuse gastric cancer ?
Answer: Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term "signet ring cell" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called "hereditary diffuse gastric cancer." Treatment depends on the stage at which the cancer is found and may include chemotherapy, radiation therapy, or operations to remove the stomach (gastrectomy).
Question: What causes Diffuse gastric cancer ?
Answer: Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thought that regular drinking may increase the risk in smokers. You can visit the following information pages develped by the National Cancer Insitute and Cancer Research UK to learn more about these risks. http://www.cancer.gov/cancertopics/wyntk/stomach/page4 http://www.cancerhelp.org.uk/help/default.asp?page=3903
Question: Is Diffuse gastric cancer inherited ?
Answer: Can diffuse gastric cancer be inherited? Diffuse gastric cancer can be inherited or can happen sporadically in a family. Sporadic means that the cancer occurred randomly for the first time in a individual and was not inherited from a parent. Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 gene. Individuals with a CDH1 mutation typically develop cancer before age 40.
Question: What are the symptoms of IMAGe syndrome ?
Answer: What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe 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 the adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - 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 X-linked thrombocytopenia ?
Answer: What are the signs and symptoms of X-linked thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked thrombocytopenia. 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 musculature - Bruising susceptibility - Congenital thrombocytopenia - Decreased mean platelet volume - Eczema - Epistaxis - Increased IgA level - Increased IgE level - Intermittent thrombocytopenia - Joint hemorrhage - Petechiae - 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 are the symptoms of Crisponi syndrome ?
Answer: What are the signs and symptoms of Crisponi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crisponi 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) Anteverted nares 90% Camptodactyly of finger 90% Full cheeks 90% Hyperhidrosis 90% Hypertonia 90% Hypohidrosis 90% Kyphosis 90% Large face 90% Long philtrum 90% Malignant hyperthermia 90% Respiratory insufficiency 90% Scoliosis 90% Sudden cardiac death 90% Abnormality of the palate 50% Cognitive impairment 50% Limitation of joint mobility 50% Narrow mouth 7.5% Seizures 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 causes TARP syndrome ?
Answer: What causes TARP syndrome? TARP syndrome is a genetic condition caused by mutations in the RBM10 gene, which is located on the X chromosome. There is little information available about how mutations in this gene specifically cause TARP syndrome. However, in 2010 researchers showed that the RBM10 gene is expressed in mouse embryos in the branchial arches (embryonic structures that give rise to parts of the head and neck) and limbs, which is consistent with body parts known to be affected in individuals with TARP syndrome. The signs and symptoms of TARP syndrome occur when this gene does not function correctly.
Question: Is TARP syndrome inherited ?
Answer: How is TARP syndrome inherited? TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. If a female has one mutated copy of RBM10 and one normal copy, she would typically be an unaffected carrier of this condition. Occasionally, female carriers of an X-linked recessive condition may have varying degrees of signs or symptoms of the condition; this is due to differences in X chromosome inactivation. When a female carrier of an X-linked condition has children, each daughter has a 50% (1 in 2) risk to also be a carrier, and a 50% risk to not be a carrier (and have 2 normal copies of the gene). Each son has a 50% risk to be affected and a 50% risk to be unaffected.
Question: How to diagnose TARP syndrome ?
Answer: Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title "Test for TARP syndrome" to find out more information about each test. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Question: What is (are) Milroy disease ?
Answer: Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. Treatment may include lymphedema therapy to improve function and alleviate symptoms.
Question: What are the symptoms of Milroy disease ?
Answer: What are the signs and symptoms of Milroy disease? The most common symptom of Milroy disease is build-up of fluids (lymphedema) in the lower limbs, which is usually present from birth or before birth. However, the degree and distribution of swelling varies among affected people. It sometimes progresses, but may improve in some cases. Other signs and symptoms may include hydrocele and/or urethral abnormalities in males; prominent veins; upslanting toenails; papillomatosis (development of wart-like growths); and cellulitis. Cellulitis may cause additional swelling. The Human Phenotype Ontology provides the following list of signs and symptoms for Milroy 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 the amniotic fluid - Abnormality of the nail - Autosomal dominant inheritance - Congenital onset - Hemangioma - Hydrocele testis - Hyperkeratosis over edematous areas - Hypoplasia of lymphatic vessels - Nonimmune hydrops fetalis - Predominantly lower limb lymphedema - 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 Milroy disease inherited ?
Answer: How is Milroy disease inherited? Milroy disease is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance.
Question: How to diagnose Milroy disease ?
Answer: Is genetic testing available for Milroy disease? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for Milroy disease. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional. If a mutation in the responsible gene has been identified in a family, genetic testing for at-risk relatives may identify those who may benefit from treatment early in the disease course. Prenatal testing for pregnancies at increased risk may also be available.
Question: What are the treatments for Milroy disease ?
Answer: How might Milroy disease be treated? There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. Good skin care is essential. These measures may improve the cosmetic appearance of the affected areas, decrease their size, and reduce the risk of complications. Decongestive physiotherapy, which combines compression bandaging, manual lymphatic drainage (a specialized massage technique), exercise, breathing exercises, dietary measures and skin care, has become the standard of care for primary lymphedema. People with recurrent cellulitis may benefit from prophylactic antibiotics. Surgical intervention is considered a last option when other medical management fails. When possible, people with Milroy disease should avoid: wounds to swollen areas (because of their reduced resistance to infection) long periods of immobility prolonged standing elevation of the affected limb certain medications (particularly calcium channel-blocking drugs that can cause increased leg swelling in some people)