Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Diffuse palmoplantar keratoderma, Bothnian type ?
Answer: What are the signs and symptoms of Diffuse palmoplantar keratoderma, Bothnian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse palmoplantar keratoderma, Bothnian 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) Palmoplantar keratoderma 90% Abnormal blistering of the skin 50% Pruritus 50% Skin ulcer 50% Autosomal dominant inheritance - Diffuse palmoplantar keratoderma - 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 Intellectual deficit - short stature - hypertelorism ?
Answer: What are the signs and symptoms of Intellectual deficit - short stature - hypertelorism? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual deficit - short stature - hypertelorism. 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% Broad forehead 90% Frontal bossing 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Long philtrum 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) Epidermolysis bullosa acquisita ?
Answer: Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. EBA is not inherited and usually occurs in adulthood. Treatment aims to protect the skin, stop the formation of blisters, and promote healing. Immunosuppressive drugs may be used to reduce the body's autoimmune response.
Question:  What are the symptoms of Epidermolysis bullosa acquisita ?
Answer: What are the signs and symptoms of Epidermolysis bullosa acquisita? Symptoms of epidermolysis bullosa acquisita (EBA) usually occur in a person's 30s or 40s. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset. For example: Non-inflammatory or mildly inflammatory EBA affecting only trauma-prone skin (the "classic" form) may cause: tense, blood- or pus-filled blisters, mostly on the hands, knees, knuckles, elbows and ankles mucous-membrane blisters that rupture easily healing with significant scarring and small white spots (milia) Generalized inflammatory EBA may cause: widespread blisters that are not localized to trauma-prone sites generalized redness and itching healing with minimal scarring The mucous membrane form of EBA may cause: blisters on various mucous membranes significant scarring and dysfunction The features of the condition may change during the course of the disease or may represent two forms at the same time. The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa acquisita. 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 blistering of the skin 90% Abnormality of the oral cavity 90% Abnormality of the nail 50% Abdominal pain 7.5% Abnormality of the intestine 7.5% Atypical scarring of skin 7.5% Pruritus 7.5% Thickened skin 7.5% Urticaria 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 Epidermolysis bullosa acquisita ?
Answer: What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in "anchoring" the skin. In some milder cases of EBA, the immune proteins involved are thought to be IgA, rather than IgG autoantibodies. The initiating event that leads to autoantibody production is unknown. EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic autoimmune disease, develop a generalized blistering skin disease with the features of EBA. EBA has also been associated with Crohn's disease.
Question:  Is Epidermolysis bullosa acquisita inherited ?
Answer: Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. There have been a couple of reports of families with more than one affected person, suggesting a genetic component may be involved. This could mean that EBA may develop in a person who is "genetically susceptible." However, the condition is not thought to be due to any specific gene(s).
Question:  What are the treatments for Epidermolysis bullosa acquisita ?
Answer: How might epidermolysis bullosa acquisita be treated?
Question:  What are the symptoms of Spinocerebellar ataxia 17 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. 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) Aggressive behavior - Apraxia - Autosomal dominant inheritance - Bradykinesia - Broad-based gait - Cerebellar atrophy - Chorea - Confusion - Depression - Diffuse cerebral atrophy - Dysarthria - Dysmetria - Dysphagia - Dystonia - Frontal lobe dementia - Frontal release signs - Gait ataxia - Gaze-evoked nystagmus - Gliosis - Hallucinations - Impaired pursuit initiation and maintenance - Intention tremor - Lack of insight - Limb ataxia - Mutism - Myoclonus - Neuronal loss in central nervous system - Paranoia - Parkinsonism - Positive Romberg sign - Progressive - Rigidity - Seizures - Urinary incontinence - 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) Omenn syndrome ?
Answer: Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels. Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired. Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes. Additional causative genes have been identified. Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved  with early diagnosis and treatment with  compatible bone marrow or cord blood stem cell transplantation.
Question:  What are the symptoms of Omenn syndrome ?
Answer: What are the signs and symptoms of Omenn syndrome? Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive often precede the onset of infections. Life-threatening infections caused by common viral, bacterial, and fungal pathogens occur next. Lymphadenopathy and hepatosplenomegaly, both symptoms unique to Omenn syndrome, develop next. The Human Phenotype Ontology provides the following list of signs and symptoms for Omenn 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) Alopecia 90% Hepatomegaly 90% Lymphadenopathy 90% Malabsorption 90% Severe combined immunodeficiency 90% Abnormality of eosinophils 50% Abnormality of temperature regulation 50% Aplasia/Hypoplasia of the eyebrow 50% Dry skin 50% Edema 50% Leukocytosis 50% Pruritus 50% Splenomegaly 50% Thickened skin 50% Abnormality of the fingernails 7.5% Abnormality of the metaphyses 7.5% Anemia 7.5% Autoimmunity 7.5% Hypothyroidism 7.5% Lymphoma 7.5% Nephrotic syndrome 7.5% Sepsis 7.5% Thyroiditis 7.5% Autosomal recessive inheritance - B lymphocytopenia - Diarrhea - Eosinophilia - Erythroderma - Failure to thrive - Hypoplasia of the thymus - Hypoproteinemia - Pneumonia - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Severe B lymphocytopenia - 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 causes Omenn syndrome ?
Answer: What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations. Omenn syndrome caused by mutations in ARTEMIS, ADA, ILRA2, ILRA7, CHD7, and DNA ligase 4 have been described in the medical literature. Some cases of Omenn syndrome have also been found in association with 22q11 microdeletion syndrome.
Question:  What are the treatments for Omenn syndrome ?
Answer: How might Omenn syndrome be treated? The standard treatment for Omenn syndrome is bone marrow transplantation or cord blood stem cell transplantation. General care for any patient with severe combined immunodeficiency (SCID), including Omenn syndrome, includes isolation to prevent infection and meticulous skin and mucosal hygienic practices while the patient is awaiting stem cell reconstitution. Broad-spectrum antibiotics may be administered parenterally while cultures and body fluid analyses are in progress. Parenteral nutrition may also be provided as therapy for diarrhea and failure to thrive. A detailed description of therapeutic options is provided in the referenced eMedicine article.
Question:  What is (are) Eosinophilic enteropathy ?
Answer: Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown.When eosinophils build up in the gastrointestinal tract, this begins to affect the body by causing polyps, tissue break down, inflammation, and ulcers. Eosinophilic enteropathy can occur in children or adults and is characterized by intolerance to some foods. Eosinophilic enteropathy can affect any part of the gastrointestinal tract, and is often named by the part affected: colon (colitis), esophagus (esophagitis), stomach (gastritis), or both the stomach and small intestine (gastroenteritis).
Question:  What are the symptoms of Eosinophilic enteropathy ?
Answer: What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach cramps, bleeding, nausea, vomiting, loss of appetite, blood loss in stools, and choking. Symptoms can occur at any age, although they usually develop between ages 20 and 50 years. The symptoms of eosinophilic enteropathy overlap with other gastrointestinal disorders, such as ulcerative colitis, which makes diagnosis difficult. It is common for individuals with this disorder to have symptoms for many years before an accurate diagnosis is made.
Question:  How to diagnose Eosinophilic enteropathy ?
Answer: How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number of eosinophils suggests the diagnosis of eosinophilic enteropathy. The pathologist will also look at the location of the eosinophils, changes in the tissue layers, and degranulation (spilling of the contents of the eosinophils). Eosinophils may be normally found in small numbers in all areas of the gastrointestinal tract except the esophagus. However, the number of eosinophils seen in individuals with eosinophilic enteropathy is much higher. Once the diagnosis of eosinophilic enteropathy is confirmed, food allergy testing is typically recommended to guide treatment. Tests for food allergies include skin prick testing, patch testing, and a Radioallergosorbent test (RAST).
Question:  What are the treatments for Eosinophilic enteropathy ?
Answer: How might eosinophilic enteropathy be treated? There is no "cure" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medical problems the child or adult may have. In most cases, dietary restrictions and medications can significantly improve the problematic symptoms of this condition. Food allergy testing is used as a guide for restriction or elimination diets. An elimination diet means strictly avoiding all foods to which the patient has tested positive on allergy testing. Skin and patch testing are used to guide elimination diets. Sometimes a stricter diet, called an elemental diet, is needed. Skin and patch testing are used to guide elimination diets, but it only takes one false negative food for the diet to "fail". Elemental diets are diets that do not include whole or broken-down forms of protein. Instead, special elemental formulas are used, which are made of amino acids (the building blocks of proteins), fats, sugars, vitamins and minerals. Amino acids do not cause allergic reactions but whole or partial proteins can. Children and adults who rely in part, or completely, on an elemental amino acid based formula may have a difficult time drinking enough of the formula. To maintain proper nutrition, some require tube feedings directly into the stomach (enteral feeds). In the most severe cases, nutrition is administered directly into the blood stream (parenteral feeds). The American Partnership for Eosinophilic Disorders provides more information about treatment for eosinophilic enteropathy. This organization also provides more details on restricted or elimination diets and elemental diets.
Question:  What is (are) Benign multicystic peritoneal mesothelioma ?
Answer: Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely, constipation and/or urinary hesitancy. Since it was first described in 1979, there have been approximately 130 cases described in the medical literature. BMPM is not related to prior asbestos exposure. The specific cause is unknown.
Question:  What are the treatments for Benign multicystic peritoneal mesothelioma ?
Answer: How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign.
Question:  What is (are) Moyamoya disease ?
Answer: Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affects children, but can affect adults. Affected people are at increased risk for blood clots, strokes, and transient ischemic attacks (TIAs) which are frequently accompanied by seizures and muscular weakness, or paralysis on one side of the body. Affected people may also have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems. Researchers believe that Moyamoya disease is an inherited condition because it tends to run in families. Moyamoya syndrome is a related term that refers to cases of moyamoya disease that occur in association with other conditions or risk factors, such as neurofibromatosis, tuberculosis meningitis, sickle cell disease, leptospirosis, brain tumors, Sturge-Weber syndrome, and tuberous sclerosis.
Question:  What are the symptoms of Moyamoya disease ?
Answer: What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya 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 cerebral vasculature 50% Cognitive impairment 50% Seizures 50% Ventriculomegaly 50% Autosomal recessive inheritance - Inflammatory arteriopathy - Telangiectasia - 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.