sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Marfanoid hypermobility syndrome ?

Answer:
What are the signs and symptoms of Marfanoid hypermobility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marfanoid hypermobility 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 skin - Anterior segment dysgenesis - Aortic regurgitation - Arachnodactyly - Dissecting aortic aneurysm - Ectopia lentis - Growth abnormality - High palate - Joint hypermobility - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Scoliosis - 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) Sudden sensorineural hearing loss ?

Answer:
Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorineural deafness often become dizzy, have ringing in their ears (tinnitus), or both (40% of the cases). The condition has a variety of causes, including infection, inflammation, tumors, trauma, exposure to toxins and conditions that affect the inner ear such as Mnire's disease. About half of people with sudden sensorineural deafness will recover some or all of their hearing spontaneously and about 85% of those who receive treatment will recover some of their hearing.
Question:
What is (are) Osteogenesis imperfecta type I ?

Answer:
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
Question:
What are the symptoms of Osteogenesis imperfecta type I ?

Answer:
What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. 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) Dentinogenesis imperfecta 5% Aortic dilatation - Autosomal dominant inheritance - Biconcave flattened vertebrae - Blue sclerae - Bruising susceptibility - Femoral bowing - Growth abnormality - Hearing impairment - Increased susceptibility to fractures - Joint hypermobility - Mitral valve prolapse - Osteopenia - Otosclerosis - Recurrent fractures - Thin skin - Wormian bones - 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) Guanidinoacetate methyltransferase deficiency ?

Answer:
Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.
Question:
What are the symptoms of Guanidinoacetate methyltransferase deficiency ?

Answer:
What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase 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) Ataxia - Autosomal recessive inheritance - Delayed speech and language development - Hyperreflexia - Hypertonia - Infantile muscular hypotonia - Intellectual disability - Myoclonus - Progressive extrapyramidal movement disorder - Seizures - 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) Best vitelliform macular dystrophy ?

Answer:
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.
Question:
What are the symptoms of Best vitelliform macular dystrophy ?

Answer:
What are the signs and symptoms of Best vitelliform macular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Best vitelliform macular 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 the macula 90% Visual impairment 90% Abnormality of color vision 50% Choroideremia 7.5% Visual field defect 7.5% Abnormal electroretinogram - Autosomal dominant inheritance - Cystoid macular degeneration - Macular dystrophy - Reduced visual acuity - 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 Best vitelliform macular dystrophy ?

Answer:
What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD.
Question:
Is Best vitelliform macular dystrophy inherited ?

Answer:
How is Best vitelliform macular dystrophy inherited? Best vitelliform macular dystrophy (BVMD) is most commonly inherited in an autosomal dominant manner, although a few cases with autosomal recessive inheritance have been reported. In autosomal dominant inheritance, having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Most people with BVMD have an affected parent, but some people have the condition as the result of a new mutation that occurred for the first time. Autosomal recessive inheritance means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question:
How to diagnose Best vitelliform macular dystrophy ?

Answer:
How is Best vitelliform macular dystrophy diagnosed? Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. An eye exam may include other tests as well. A fundus exam may show a typical yellow yolk-like macular lesion. An EOG is usually abnormal in affected people, but occasionally, people with signs of BVMD and a mutation in the BEST1 gene have a normal EOG. The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance. Genetic testing may also be used to make a diagnosis of BVMD. A BEST1 mutation is detected in about 96% of affected people who have an affected family member. In people with no family history of BVMD, the mutation detection rate ranges between 50-70%. The exact type of genetic test ordered to confirm a diagnosis may depend on a person's ancestry, family history, and/or whether other eye disorders are also being considered.
Question:
What are the treatments for Best vitelliform macular dystrophy ?

Answer:
How might Best vitelliform macular dystrophy be treated? There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time. Low vision aids help affected people with significant loss of visual acuity. Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor) agents such as bevacizumab have shown limited success in treating some of the secondary features of BVMD such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina).
Question:
What are the symptoms of Rippling muscle disease, 1 ?

Answer:
What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. 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 - EMG abnormality - Exercise-induced muscle cramps - Exercise-induced muscle stiffness - Exercise-induced myalgia - Muscle hyperirritability - Muscle mounding - Percussion-induced rapid rolling muscle contractions (PIRC) - Skeletal muscle hypertrophy - 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) Proximal symphalangism ?

Answer:
Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 gene.
Question:
What are the symptoms of Proximal symphalangism ?

Answer:
What are the signs and symptoms of Proximal symphalangism? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal symphalangism. 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) Camptodactyly of finger 90% Proximal symphalangism (hands) 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Carpal synostosis 75% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Conductive hearing impairment 50% Elbow dislocation 50% Humeroradial synostosis 50% Sensorineural hearing impairment 50% Stapes ankylosis 50% Aplasia/Hypoplasia of the middle phalanges of the hand 7.5% Aplasia/Hypoplasia of the middle phalanges of the toes 7.5% Clinodactyly of the 5th finger 7.5% Finger syndactyly 7.5% Strabismus 7.5% Distal symphalangism (hands) 5% Metacarpophalangeal synostosis 1% Abnormal finger flexion creases - Autosomal dominant inheritance - Pes planus - Proximal/middle symphalangism of 5th finger - Short 5th metacarpal - 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:
How to diagnose Proximal symphalangism ?

Answer:
Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Question:
What are the symptoms of Muscular dystrophy, congenital, megaconial type ?

Answer:
What are the signs and symptoms of Muscular dystrophy, congenital, megaconial type? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, megaconial 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) Dilated cardiomyopathy 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Delayed speech and language development - Elevated serum creatine phosphokinase - Facial palsy - Gowers sign - Ichthyosis - Intellectual disability - Microcephaly - Mitochondrial inheritance - Motor delay - Myopathy - Neonatal hypotonia - Poor speech - Seizures - Slow progression - 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 are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ?

Answer:
What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. 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) Hydrocephalus 90% Mandibular prognathia 90% Sprengel anomaly 90% Abnormal form of the vertebral bodies 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anteverted nares 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Cognitive impairment 50% Depressed nasal bridge 50% High forehead 50% Hypertelorism 50% Hypoplasia of the zygomatic bone 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Melanocytic nevus 50% Obesity 50% Sandal gap 50% Scoliosis 50% Vertebral segmentation defect 50% Abnormality of the nipple 7.5% Myopia 7.5% Strabismus 7.5% Arachnoid cyst 5% Bulbous nose 5% Delayed gross motor development 5% Epicanthus 5% Hypoplasia of dental enamel 5% Intellectual disability 5% Low-set ears 5% Malar flattening 5% Wide nasal bridge 5% High palate - Kyphoscoliosis - Psychosis - 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) Duane syndrome type 1 ?

Answer:
Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome).