Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Ankylosis of teeth ?
Answer: What are the signs and symptoms of Ankylosis of teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosis of teeth. 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) Reduced number of teeth 90% Abnormality of dental enamel 50% Clinodactyly of the 5th finger 7.5% Mandibular prognathia 7.5% Abnormality of the teeth - 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 symptoms of Panhypopituitarism X-linked ?
Answer: What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. 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) Panhypopituitarism - Pituitary dwarfism - X-linked 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) Familial exudative vitreoretinopathy ?
Answer: Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
Question: Is Familial exudative vitreoretinopathy inherited ?
Answer: How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
Question: What are the treatments for Familial exudative vitreoretinopathy ?
Answer: How might familial exudative vitreoretinopathy be treated? Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment.
Question: What are the symptoms of STING-associated vasculopathy with onset in infancy ?
Answer: What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. 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) Arthralgia 5% Joint stiffness 5% Myalgia 5% Myositis 5% Anemia - Cutis marmorata - Elevated erythrocyte sedimentation rate - Erythema - Failure to thrive - Fever - Follicular hyperplasia - Growth delay - Increased antibody level in blood - Interstitial pulmonary disease - Leukopenia - Nail dystrophy - Pustule - Recurrent respiratory infections - Telangiectasia - Thrombocytosis - 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 Gastroschisis ?
Answer: What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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) Gastroschisis 90% Abnormality of the mesentery 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 is (are) Thiamine responsive megaloblastic anemia syndrome ?
Answer: Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called "thiamine-responsive" because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by mutations in the SLC19A2 gene and is inherited in an autosomal recessive fashion.
Question: What is (are) De Barsy syndrome ?
Answer: De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. The genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. Treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures.
Question: What are the symptoms of Atrial septal defect ostium primum ?
Answer: What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. 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) Atria septal defect - 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) Centronuclear myopathy ?
Answer: Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype. For more information, click on the link of interest above. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.
Question: What is (are) Tietze syndrome ?
Answer: Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders. The cause of this condition is unknown. In some cases, Tietze syndrome may resolve on its own without treatment. Management for others may include minimizing physical activity; applying local heat; and taking pain medications and/or nonsteroidal anti-inflammatory drugs. Of note, this syndrome is different from Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair.
Question: What are the symptoms of Tietze syndrome ?
Answer: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. More than 70% of cases occur on only one side (unilateral) and affect one joint. The affected joint is typically tender and swollen. While the pain associated with Tietze syndrome usually subsides after several weeks or months, the swelling may persist.
Question: What causes Tietze syndrome ?
Answer: What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition.
Question: Is Tietze syndrome inherited ?
Answer: Is Tietze syndrome inherited? Tietze syndrome is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.
Question: How to diagnose Tietze syndrome ?
Answer: How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A thorough physical exam and various tests (i.e. electrocardiogram, x-ray, CT scan) may be necessary to exclude other conditions.
Question: What are the treatments for Tietze syndrome ?
Answer: How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections. Although the pain usually subsides after several weeks or months, swelling may persist.
Question: What is (are) Medullary cystic kidney disease 1 ?
Answer: Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.
Question: What are the symptoms of Medullary cystic kidney disease 1 ?
Answer: What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 1. 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) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - 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) Congenital muscular dystrophy ?
Answer: Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes. Most forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Question: What are the symptoms of Salcedo syndrome ?
Answer: What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo 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) Glomerulopathy 90% Hematuria 90% Hypertension 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Abnormality of the skeletal system - Autosomal recessive inheritance - Nephropathy - 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) Cluttering ?
Answer: Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech.
Question: What is (are) Lichen planus pigmentosus ?
Answer: Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the exact underlying cause of LPP is unknown, studies suggest that UV light, viral infections, and certain topical (applied to the skin) agents such as mustard oil and amla oil, may trigger the condition. Treatment for LPP is symptomatic.
Question: What are the symptoms of Lichen planus pigmentosus ?
Answer: What are the signs and symptoms of lichen planus pigmentosus? Lichen planus pigmentosus (LPP), a rare form of lichen planus, is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the skin findings of LPP are usually not associated with any additional symptoms, some affected people may experience mild itching and/or burning or develop other features of lichen planus. Please click here to learn more about the signs and symptoms that may be found in lichen planus. LPP usually affects young to middle-aged adults who have dark skin, especially those of Indian, Latin American, and the Middle Eastern descent.
Question: What causes Lichen planus pigmentosus ?
Answer: What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i.e. mustard oil, amla oil).
Question: How to diagnose Lichen planus pigmentosus ?
Answer: How is lichen planus pigmentosus diagnosed? A diagnosis of lichen planus pigmentosus is usually suspected based on the presence of characteristic signs and symptoms. A skin biopsy may then be ordered to confirm the diagnosis.
Question: What are the treatments for Lichen planus pigmentosus ?
Answer: How might lichen planus pigmentosus be treated? Treatment for lichen planus pigmentosus is generally symptomatic and may include: Topical (applied to the skin) corticosteroids Topical calcineurin inhibitors (medications that are typically used to treat eczema) Skin lightening agents Laser therapy