Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Osteosclerosis with ichthyosis and premature ovarian failure ?
Answer: What are the signs and symptoms of Osteosclerosis with ichthyosis and premature ovarian failure? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteosclerosis with ichthyosis and premature ovarian failure. 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) Chorioretinal abnormality 90% Edema of the lower limbs 90% Ichthyosis 90% Increased bone mineral density 90% Secondary amenorrhea 90% 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) Macular degeneration ?
Answer: Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. There are 2 major types of AMD, known as the dry form and the wet form. The dry form accounts for up to 90% of cases and is characterized by slowly progressive vision loss. The wet form is associated with severe vision loss that can worsen rapidly. AMD is caused by a combination of genetic and environmental factors, some of which have been identified. Increasing age is the most important non-genetic risk factor. The condition appears to run in families in some cases. While there is currently no cure for AMD, there are therapies available to help slow the progression of the condition.
Question:  What are the symptoms of Neuropathy, hereditary motor and sensory, Okinawa type ?
Answer: What are the signs and symptoms of Neuropathy, hereditary motor and sensory, Okinawa type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, hereditary motor and sensory, Okinawa 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) Hand tremor 5% Adult onset - Autosomal dominant inheritance - Decreased number of peripheral myelinated nerve fibers - Degeneration of anterior horn cells - Distal sensory impairment - Fasciculations - Gait disturbance - Gliosis - Hyperlipidemia - Mildly elevated creatine phosphokinase - Peripheral neuropathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Tetraplegia - 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 Beukes familial hip dysplasia ?
Answer: What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. 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 bone mineral density 90% Osteoarthritis 90% Kyphosis 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Childhood onset - Flat capital femoral epiphysis - Hip dysplasia - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - 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) TEMPI syndrome ?
Answer: TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib.
Question:  What is (are) Acromesomelic dysplasia ?
Answer: Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type
Question:  What is (are) Niemann-Pick disease type A ?
Answer: Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.
Question:  What are the symptoms of Niemann-Pick disease type A ?
Answer: What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. 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) Cherry red spot of the macula 50% Athetosis - Autosomal recessive inheritance - Bone-marrow foam cells - Constipation - Diffuse reticular or finely nodular infiltrations - Failure to thrive - Feeding difficulties in infancy - Foam cells with lamellar inclusion bodies - Hepatomegaly - Hyporeflexia - Infantile onset - Intellectual disability - Lymphadenopathy - Microcytic anemia - Muscle weakness - Muscular hypotonia - Osteoporosis - Protuberant abdomen - Recurrent respiratory infections - Rigidity - Sea-blue histiocytosis - Short stature - Spasticity - Splenomegaly - Vomiting - Xanthomatosis - 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 treatments for Niemann-Pick disease type A ?
Answer: How might Niemann-Pick disease type A be treated? There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms:  A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical therapists A gastroenterologist Learning specialists You can learn more about ongoing research efforts to better understand the natural history of this condition and identify treatment options in the Research section of our web page.
Question:  What are the symptoms of Optic atrophy 5 ?
Answer: What are the signs and symptoms of Optic atrophy 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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 dominant inheritance - Central scotoma - Optic atrophy - Slow decrease in visual acuity - Tritanomaly - 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 Jervell and Lange-Nielsen syndrome 2 ?
Answer: What are the signs and symptoms of Jervell and Lange-Nielsen syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell and Lange-Nielsen syndrome 2. 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 - Prolonged QT interval - Sensorineural hearing impairment - Syncope - 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 Methionine adenosyltransferase deficiency ?
Answer: What are the signs and symptoms of Methionine adenosyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Methionine adenosyltransferase 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) Intellectual disability 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - CNS demyelination - Dystonia - Hypermethioninemia - Hyperreflexia - Peripheral demyelination - 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) Littoral cell angioma of the spleen ?
Answer: Littoral cell angioma (LCA)  is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy).
Question:  What are the symptoms of Purpura simplex ?
Answer: What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. 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 - Bruising susceptibility - Epistaxis - Menorrhagia - Ptosis - Purpura - 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 hemiplegic migraine type 2 ?
Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Question:  What are the symptoms of Familial hemiplegic migraine type 2 ?
Answer: What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 2. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - 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 treatments for Familial hemiplegic migraine type 2 ?
Answer: How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.