Druvith/medqa1 huggingface dataset:
Question:  What causes Pemphigus vulgaris ?
Answer: What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary.
Question:  What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ?
Answer: What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser 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 dominant inheritance - Foot dorsiflexor weakness - Peroneal muscle atrophy - Scapuloperoneal weakness - Shoulder girdle muscle atrophy - Talipes equinovarus - 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 Bixler Christian Gorlin syndrome ?
Answer: What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin 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) Atresia of the external auditory canal 90% Hypertelorism 90% Microcephaly 90% Oral cleft 90% Abnormal localization of kidney 50% Cognitive impairment 50% Conductive hearing impairment 50% Short stature 50% 2-3 toe syndactyly - Abnormality of cardiovascular system morphology - Abnormality of the vertebrae - Autosomal recessive inheritance - Bifid nose - Broad nasal tip - Cleft palate - Cleft upper lip - Ectopic kidney - Facial cleft - Microtia - Narrow mouth - Short 5th finger - Small thenar eminence - 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 Symmetrical thalamic calcifications ?
Answer: What are the signs and symptoms of Symmetrical thalamic calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Symmetrical thalamic calcifications. 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 voice 90% Cerebral calcification 90% Cognitive impairment 90% EEG abnormality 90% Hypertonia 90% Microcephaly 50% Polyhydramnios 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 is (are) Laing distal myopathy ?
Answer: Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk.  Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.
Question:  What are the symptoms of Laing distal myopathy ?
Answer: What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. 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) Dilated cardiomyopathy 7.5% Proximal muscle weakness 7.5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - 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) Inflammatory breast cancer ?
Answer: Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.
Question:  What is (are) Osteogenesis imperfecta type I ?
Answer: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
Question:  What are the symptoms of Osteogenesis imperfecta type I ?
Answer: What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. 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) Dentinogenesis imperfecta 5% Aortic dilatation - Autosomal dominant inheritance - Biconcave flattened vertebrae - Blue sclerae - Bruising susceptibility - Femoral bowing - Growth abnormality - Hearing impairment - Increased susceptibility to fractures - Joint hypermobility - Mitral valve prolapse - Osteopenia - Otosclerosis - Recurrent fractures - Thin skin - Wormian bones - 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 Immunodeficiency with hyper IgM type 5 ?
Answer: What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. 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 - Epididymitis - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Increased IgM level - Lymphadenopathy - Recurrent bacterial infections - Recurrent upper and lower respiratory tract infections - 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) Turner syndrome ?
Answer: Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a "webbed" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.
Question:  What causes Turner syndrome ?
Answer: What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.
Question:  Is Turner syndrome inherited ?
Answer: Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional.
Question:  What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?
Answer: What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie 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) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - 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 Cardiomyopathy dilated with woolly hair and keratoderma ?
Answer: What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. 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) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - 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) Glioma ?
Answer: Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy.
Question:  What is (are) Pelizaeus-Merzbacher disease ?
Answer: Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.