randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of Fountain syndrome ? 
 What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain 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) Brachydactyly syndrome 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Edema 90% Round face 90% Sensorineural hearing impairment 90% Thick lower lip vermilion 90% EEG abnormality 50% Full cheeks 50% Hyperextensible skin 50% Malar flattening 50% Wide mouth 50% Abnormality of the metacarpal bones 7.5% Abnormality of the metaphyses 7.5% Abnormality of the palate 7.5% Clubbing of toes 7.5% Cutis marmorata 7.5% Gingival overgrowth 7.5% Kyphosis 7.5% Large hands 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Scoliosis 7.5% Seizures 7.5% Short stature 7.5% Spina bifida occulta 7.5% Thick eyebrow 7.5% Autosomal recessive inheritance - Broad palm - Facial edema - Intellectual disability - Thickened calvaria - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Pediatric ulcerative colitis ? 
 What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. 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) Abdominal pain - Diarrhea - Growth delay - Heterogeneous - Intestinal obstruction - Multifactorial inheritance - Recurrent aphthous stomatitis - Ulcerative colitis - Weight loss - 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.
This is a medical question of type : information 
 What is (are) Brody myopathy ? 
 Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified.
This is a medical question of type : symptoms 
 What are the symptoms of Brody myopathy ? 
 What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather. In people with Brody disease, the term pseudomyotonia is used to describe these muscle symptoms. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. Because of the normal EMG results, the word pseudo-myotonia is used. In addition to the pseudomyotonia, people with Brody disease sometimes develop myoglobinuria. Myoglobinuria is the abnormal breakdown of the muscle protein, myoglobin. Click here to learn more about testing for myoglobinuria. People with Brody disease do not tend to have percussion myotonia. A doctor may test for percussion myotonia by mildly tapping on a muscle and watching how the muscle responds. Percussion myotonia is a symptom in other muscle disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Brody myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Muscle cramps - 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.
This is a medical question of type : causes 
 What causes Brody myopathy ? 
 What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins. The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction. Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction. Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this disease.
This is a medical question of type : exams and tests 
 How to diagnose Brody myopathy ? 
 How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca ATPase) can also help confirm the diagnosis.
This is a medical question of type : treatment 
 What are the treatments for Brody myopathy ? 
 How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success.
This is a medical question of type : information 
 What is (are) Occipital horn syndrome ? 
 Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints.  Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body.  Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.
This is a medical question of type : symptoms 
 What are the symptoms of Occipital horn syndrome ? 
 What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn 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 the fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - 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.
This is a medical question of type : exams and tests 
 How to diagnose Occipital horn syndrome ? 
 Is genetic testing available for occipital horn syndrome?
This is a medical question of type : information 
 What is (are) Charcot-Marie-Tooth disease type 1A ? 
 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications.
This is a medical question of type : information 
 What is (are) CADASIL ? 
 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.
This is a medical question of type : causes 
 What causes CADASIL ? 
 What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL.
This is a medical question of type : inheritance 
 Is CADASIL inherited ? 
 How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.
This is a medical question of type : treatment 
 What are the treatments for CADASIL ? 
 How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.
This is a medical question of type : information 
 What is (are) Wiedemann-Steiner syndrome ? 
 Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.
This is a medical question of type : symptoms 
 What are the symptoms of Wiedemann-Steiner syndrome ? 
 What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner 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) Constipation 5% Delayed skeletal maturation 5% Long eyelashes 5% Muscular hypotonia 5% Sacral dimple 5% Seizures 5% Tapered finger 5% Aggressive behavior - Blepharophimosis - Broad-based gait - Clinodactyly of the 5th finger - Delayed speech and language development - Epicanthus - Failure to thrive - Flat face - High palate - Hypertelorism - Intellectual disability - Long philtrum - Low-set ears - Short middle phalanx of finger - Short stature - Short toe - Strabismus - Synophrys - Thick eyebrow - Wide 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.
This is a medical question of type : information 
 What is (are) Bell's palsy ? 
 Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used.
This is a medical question of type : symptoms 
 What are the symptoms of Bell's palsy ? 
 What are the symptoms of Bell's palsy?
This is a medical question of type : causes 
 What causes Bell's palsy ? 
 What causes Bell's palsy?
This is a medical question of type : treatment 
 What are the treatments for Bell's palsy ? 
 How might Bell's palsy be treated?
This is a medical question of type : symptoms 
 What are the symptoms of Popliteal pterygium syndrome lethal type ? 
 What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Abnormality of the palpebral fissures 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the eyebrow 90% Finger syndactyly 90% Hypoplastic toenails 90% Median cleft lip 90% Microcephaly 90% Popliteal pterygium 90% Synostosis of joints 90% Talipes 90% Toe syndactyly 90% Trismus 90% Aplasia/Hypoplasia of the thumb 50% Cleft eyelid 50% Cognitive impairment 50% Narrow mouth 50% Opacification of the corneal stroma 50% Short nose 50% Underdeveloped nasal alae 50% Renal hypoplasia/aplasia 7.5% Alopecia totalis 5% Bilateral cryptorchidism 5% Cupped ear 5% Hypertelorism 5% Hypoplasia of the maxilla 5% Hypoplastic male external genitalia 5% Hypoplastic scapulae 5% Microphthalmia 5% Wide intermamillary distance 5% Absent eyebrow - Absent eyelashes - Absent thumb - Anal stenosis - Ankyloblepharon - Anonychia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Facial cleft - Hypoplastic labia majora - Intrauterine growth retardation - Low-set ears - Short phalanx of finger - Small nail - Syndactyly - 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.
This is a medical question of type : information 
 What is (are) Bilateral frontal polymicrogyria ? 
 Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.