Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Osteomesopyknosis ?
Answer: What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in affected people is normal. There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteomesopyknosis. 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) Increased bone mineral density 90% Abnormal form of the vertebral bodies 50% Kyphosis 50% Scoliosis 50% Abnormal cortical bone morphology 7.5% Abnormality of metabolism/homeostasis 7.5% Autosomal dominant inheritance - Infertility - Low back pain - 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 Osteomesopyknosis inherited ?
Answer: How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear.
Question: What is (are) Lymphomatoid papulosis ?
Answer: Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system).
Question: What are the symptoms of Lymphomatoid papulosis ?
Answer: What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. They may develop into blood or pus-filled blisters that break and form a crusty sore before healing completely. Lesions tend to spontaneously heal with or without scarring within 2-8 weeks of appearing.
Question: What causes Lymphomatoid papulosis ?
Answer: What causes lymphomatoid papulosis? The cause of lymphomatoid papulosis is unknown, but it is associated with a proliferation of atypical T-cells. T-cells are specific white blood cells involved in immune responses.
Question: What are the treatments for Lymphomatoid papulosis ?
Answer: How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. Low-dose weekly methotrexate has been used to suppress the condition with some success, however the treatment effects are not lasting. Oral psoralen plus UVA phototherapy may also effectively treat and suppresses the disease. A few reports have found that following treatments may also help with disease suppression: Topical carmustine Topical nitrogen mustard Topical MTX Topical imiquimod cream Intralesional interferon Low-dose cyclophosphamide Chlorambucil Medium-dose UVA-1 therapy Excimer laser therapy Dapsone
Question: What is (are) Factor XI deficiency ?
Answer: Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. The condition is generally inherited in an autosomal recessive manner; however, it may follow an autosomal dominant pattern in some families. Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries.
Question: What are the symptoms of Factor XI deficiency ?
Answer: What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI 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) Abnormal bleeding - Autosomal dominant inheritance - Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced factor XI activity - 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) Rh deficiency syndrome ?
Answer: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene . The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.
Question: What are the symptoms of Cataract Hutterite type ?
Answer: What are the signs and symptoms of Cataract Hutterite type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract Hutterite type. 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 cataract - Juvenile cataract - 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 Acromegaloid facial appearance syndrome ?
Answer: What are the signs and symptoms of Acromegaloid facial appearance syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid facial appearance 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 nasal alae 90% Abnormality of the tongue 90% Blepharophimosis 90% Coarse facial features 90% Gingival overgrowth 90% Hypertelorism 90% Joint hypermobility 90% Large hands 90% Palpebral edema 90% Thick lower lip vermilion 90% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Craniofacial hyperostosis 50% Highly arched eyebrow 50% Sloping forehead 50% Synophrys 50% Thick eyebrow 50% Thickened skin 50% Intellectual disability, mild 7.5% Seizures 7.5% Specific learning disability 7.5% Tapered finger 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Bulbous nose - Large for gestational age - 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) Lymphocytic colitis ?
Answer: Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lining of the colon are of normal thickness, but an increase in the number of lymphocytes (a type of white blood cell) is observed. Signs and symptoms of the condition may include chronic, watery diarrhea; abdominal pain, cramping, and bloating; weight loss; nausea; dehydration; and/or fecal incontinence. The underlying cause of lymphocytic colitis is currently unknown; however, scientists suspect that autoimmune conditions, medications, infections, genetic factors, and/or bile acid malabsorption may contribute to the development of the condition. Treatment is based on the signs and symptoms present in each person and may include certain medications, dietary modifications, and in rare cases, surgery.
Question: What are the symptoms of Supraumbilical midabdominal raphe and facial cavernous hemangiomas ?
Answer: What are the signs and symptoms of Supraumbilical midabdominal raphe and facial cavernous hemangiomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Supraumbilical midabdominal raphe and facial cavernous hemangiomas. 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 nipple 90% Atypical scarring of skin 90% Cavernous hemangioma 90% Hernia of the abdominal wall 50% Strabismus 50% Autosomal dominant inheritance - Cavernous hemangioma of the face - 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 Ghosal hematodiaphyseal dysplasia syndrome ?
Answer: What are the signs and symptoms of Ghosal hematodiaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ghosal hematodiaphyseal dysplasia 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 cortical bone morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Bowing of the long bones 90% Craniofacial hyperostosis 90% Neurological speech impairment 7.5% Splenomegaly 7.5% Hyperostosis cranialis interna 5% Leukopenia 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Diaphyseal dysplasia - Increased bone mineral density - Myelofibrosis - Phenotypic variability - Refractory anemia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ?
Answer: What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. 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 - Epiphyseal stippling - Failure to thrive - Rhizomelia - Short femur - Short humerus - 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) Amelogenesis imperfecta ?
Answer: Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.
Question: What are the symptoms of Amelogenesis imperfecta ?
Answer: What are the signs and symptoms of amelogenesis imperfecta? In general, the both primary and permanent teeth are affected. The enamel tends to be soft and weak, and the teeth appear yellow and damage easily. The defects associated with amelogeneis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is not mineralized and is thus described as hypomineralized. Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance. There are four principal types based on the defects in the tooth enamel. These types are subdivided into 14 different subtypes based on the clinical presentation and the mode of inheritance. Detailed information about the signs and symptoms associated with the four major types of amelogenesis imperfecta is available from the UNC School of Dentistry.
Question: What causes Amelogenesis imperfecta ?
Answer: What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder. Click on each gene name to learn more about the role it plays in the development of tooth enamel.
Question: Is Amelogenesis imperfecta inherited ?
Answer: How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.
Question: How to diagnose Amelogenesis imperfecta ?
Answer: How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed. Intraoral X-rays (X-rays taken inside the mouth) show contrast between the enamel and dentin in cases in which mineralization is affected. Genetic testing is available for the genes AMELX, ENAM, and MMP20. You can visit the Genetic Testing Registry to locate laboratories performing genetic testing for these genes. The American Academy of Pediatric Dentistry is a source of information to find a pediatric dentist. The National Dental Association can also assist people in locating a dentist.