Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Holocarboxylase synthetase deficiency ?
Answer: What are the signs and symptoms of Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase 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) Abnormal blistering of the skin 90% Behavioral abnormality 90% Cheilitis 90% Cognitive impairment 90% Hearing impairment 90% Hypertrichosis 90% Inflammatory abnormality of the eye 90% Muscular hypotonia 90% Nausea and vomiting 90% Reduced consciousness/confusion 90% Seizures 90% Skin rash 90% Weight loss 90% Abnormal pattern of respiration 50% Hyperammonemia 50% Respiratory insufficiency 50% Alopecia 7.5% Dry skin 7.5% Incoordination 7.5% Thrombocytopenia 7.5% Autosomal recessive inheritance - Coma - Feeding difficulties in infancy - Hypertonia - Hyperventilation - Irritability - Lethargy - Metabolic acidosis - Organic aciduria - Tachypnea - Vomiting - 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 Metaphyseal chondrodysplasia Spahr type ?
Answer: What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr 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) Abnormality of the hip bone 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu varum 90% Hyperlordosis 90% Reduced bone mineral density 90% Short stature 90% Abnormality of epiphysis morphology 50% Carious teeth 50% Scoliosis 50% Abnormality of the head - Autosomal recessive inheritance - Disproportionate short stature - Genu valgum - Metaphyseal chondrodysplasia - Metaphyseal sclerosis - Metaphyseal widening - Motor delay - Progressive leg bowing - Short lower limbs - Waddling gait - 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) Dermatofibrosarcoma protuberans ?
Answer: Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.
Question:  What are the symptoms of Dermatofibrosarcoma protuberans ?
Answer: What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. 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) Neoplasm of the skin 90% Sarcoma 90% Thickened skin 90% Skin ulcer 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 causes Dermatofibrosarcoma protuberans ?
Answer: What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited.
Question:  What is (are) Cap myopathy ?
Answer: Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question:  What are the symptoms of Chromosome 8p23.1 deletion ?
Answer: What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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) Cognitive impairment 90% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Chanarin-Dorfman syndrome ?
Answer: Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
Question:  What are the symptoms of Chanarin-Dorfman syndrome ?
Answer: What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman 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 blood and blood-forming tissues - Alopecia - Ataxia - Autosomal recessive inheritance - Congenital nonbullous ichthyosiform erythroderma - Ectropion - Hepatic steatosis - Hepatomegaly - Intellectual disability - Microtia - Muscle weakness - Myopathy - Nystagmus - Sensorineural hearing impairment - Strabismus - Subcapsular cataract - 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) Spondylocostal dysostosis 3 ?
Answer: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.  Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Question:  What are the symptoms of Spondylocostal dysostosis 3 ?
Answer: What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. 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% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Slender finger - Supernumerary vertebral ossification centers - 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) Serpiginous choroiditis ?
Answer: Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.
Question:  What causes Serpiginous choroiditis ?
Answer: What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.
Question:  Is Serpiginous choroiditis inherited ?
Answer: Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.
Question:  What are the treatments for Serpiginous choroiditis ?
Answer: Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role of cyclosporine alone has been investigated. These treatments may be administered for a long period of time to prevent recurrences. A serious complication of serpiginous choroiditis is choroidal neovascularization. Laser photocoagulation or surgery may be helpful in some of these cases.
Question:  What are the symptoms of Facio thoraco genital syndrome ?
Answer: What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital 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) Anteverted nares - Autosomal recessive inheritance - Glandular hypospadias - Long philtrum - Microphthalmia - Pectus excavatum - Prominent scrotal raphe - Shawl scrotum - Small nail - Smooth philtrum - Wide intermamillary distance - 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) Buschke Lowenstein tumor ?
Answer: Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus.  This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues.  These tumors rarely spread to other parts of the body.  Treatment of these tumors begins with removal by surgery.  Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type.
Question:  What are the symptoms of Congenital myasthenic syndrome with episodic apnea ?
Answer: What are the signs and symptoms of Congenital myasthenic syndrome with episodic apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome with episodic apnea. 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 immune system - Apneic episodes precipitated by illness, fatigue, stress - Autosomal recessive inheritance - Bulbar palsy - Congenital onset - Decreased miniature endplate potentials - Dysphagia - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Generalized hypotonia due to defect at the neuromuscular junction - Ophthalmoparesis - Poor suck - Ptosis - Respiratory distress - Respiratory insufficiency due to muscle weakness - Strabismus - Sudden episodic apnea - Type 2 muscle fiber atrophy - Weak cry - 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.