Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Priapism ?
Answer: What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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 - Priapism - 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) Oral leukoplakia ?
Answer: Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cancerous at the time of biopsy and another 8-15% become cancerous over time. The exact cause of oral leukoplakia is not known. Factors that may increase the risk of developing oral leukoplakia include smoking, alcohol use, vitamin deficiencies, malocclusion, and a weakened immune system.Treatment depends on the biopsy results and the size, appearance, and location of the oral leukoplakia. Removal or ablation of the lesion by surgery, laser, or cryotherapy (use of low temperature) may be recommended.
Question:  What are the symptoms of Neutropenia lethal congenital with eosinophilia ?
Answer: What are the signs and symptoms of Neutropenia lethal congenital with eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia lethal congenital with eosinophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital neutropenia - Eosinophilia - Neonatal death - 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) Muscular dystrophy ?
Answer: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.
Question:  What is (are) Thyroglossal tract cyst ?
Answer: A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development.
Question:  What causes Thyroglossal tract cyst ?
Answer: Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.
Question:  What are the treatments for Thyroglossal tract cyst ?
Answer: How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and increase the chance for regrowth.
Question:  What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ?
Answer: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
Question:  What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ?
Answer: What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. 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 temperature regulation 90% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent nose - 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 Osteoporosis-pseudoglioma syndrome ?
Answer: What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia affecting the eye 90% Bowing of the long bones 90% Cataract 90% Delayed skeletal maturation 90% Joint hypermobility 90% Muscular hypotonia 90% Recurrent fractures 90% Reduced bone mineral density 90% Visual impairment 90% Abnormality of the pupil 50% Cognitive impairment 50% Short stature 50% Abnormal hair quantity 7.5% Depressed nasal bridge 7.5% Kyphosis 7.5% Low posterior hairline 7.5% Obesity 7.5% Optic atrophy 7.5% Absent anterior eye chamber - Autosomal recessive inheritance - Barrel-shaped chest - Blindness - Glioma - Intellectual disability, mild - Iris atrophy - Kyphoscoliosis - Metaphyseal widening - Microcephaly - Microphthalmia - Osteoporosis - Pathologic fracture - Phthisis bulbi - Platyspondyly - Ventricular septal defect - Vitreoretinopathy - 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 Ataxia - hypogonadism - choroidal dystrophy ?
Answer: What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. 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 retinal pigmentation 90% Abnormality of the genital system 90% Incoordination 90% Abnormal upper motor neuron morphology 5% Spasticity 5% Abnormality of metabolism/homeostasis - Areflexia - Autosomal recessive inheritance - Cerebellar atrophy - Chorioretinal dystrophy - Distal amyotrophy - Hypogonadotrophic hypogonadism - Hyporeflexia - Intention tremor - Juvenile onset - Photophobia - Progressive - Progressive visual loss - Retinal dystrophy - Scanning speech - Spinocerebellar atrophy - 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 Mutiple parosteal osteochondromatous proliferations ?
Answer: What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - 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) Lesch Nyhan syndrome ?
Answer: Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.
Question:  What are the symptoms of Lesch Nyhan syndrome ?
Answer: What are the signs and symptoms of Lesch Nyhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lesch Nyhan 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) Abnormality of movement 90% Arthritis 90% Behavioral abnormality 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Hyperuricemia 90% Anemia 50% Hematuria 50% Renal insufficiency 50% Abnormality of extrapyramidal motor function - Choreoathetosis - Dysarthria - Dysphagia - Dystonia - Gout (feet) - Hyperreflexia - Hyperuricosuria - Intellectual disability - Megaloblastic anemia - Motor delay - Muscular hypotonia - Nephrolithiasis - Opisthotonus - Short stature - Spasticity - Testicular atrophy - Vomiting - X-linked recessive 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:  Is Lesch Nyhan syndrome inherited ?
Answer: How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have one X and one Y chromosome. Females who have one mutated copy of the responsible gene (on one of their X chromosomes) usually do not have the condition and are referred to as carriers. This is because they still have a working copy of the responsible gene on their other X chromosome. Males with one mutated copy of the responsible gene have signs and symptoms of the condition (they are affected) because they do not have another X chromosome with a working copy of the gene. This is why X-linked recessive disorders, including Lesch Nyhan syndrome, occur much more frequently in males. Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. A female who is a carrier of Lesch Nyhan syndrome has a 50% chance of passing on the mutated HPRT1 gene in each pregnancy. This is because a carrier female will randomly pass on one of her X chromosome to each child. Sons who inherit the mutated gene will be affected, and daughters who inherit the mutated gene will be carriers. This means that with each pregnancy, a female who is a carrier has a: 50% (1 in 2) chance of having an unaffected son or daughter 25% (1 in 4) chance of having an affected son 25% chance of having a carrier daughter
Question:  What are the symptoms of Focal facial dermal dysplasia ?
Answer: What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal 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) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - 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) Bilateral perisylvian polymicrogyria ?
Answer: Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. In most cases, mild to severe intellectual disability is also present. While the exact cause of BPP is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder; however, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.