bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine 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 90% Depressed nasal ridge 90% Enlarged thorax 90% Exaggerated cupid's bow 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Short neck 90% Gingival overgrowth 50% Intrauterine growth retardation 50% Proptosis 50% Respiratory insufficiency 50% Short nose 50% Mixed hearing impairment 7.5% Natal tooth 7.5% Bowing of the long bones 5% Brachydactyly syndrome 5% Highly arched eyebrow 5% Hydrocephalus 5% Hydronephrosis 5% Hypoplasia of dental enamel 5% Long hallux 5% Mandibular prognathia 5% Microdontia 5% Micromelia 5% Pectus excavatum 5% Plagiocephaly 5% Protruding ear 5% Wide mouth 5% Autosomal recessive inheritance - Brachyturricephaly - Cerebral calcification - Choanal atresia - Choanal stenosis - Cleft palate - Depressed nasal bridge - Elevated alkaline phosphatase - High palate - Hypertelorism - Hypophosphatemia - Hypoplasia of midface - Large fontanelles - Malar flattening - Narrow mouth - Neonatal death - Protruding tongue - Pulmonary hypoplasia - Short stature - Thoracic hypoplasia - 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.
Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.
What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - 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.
How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. Severely affected patients have been treated with plasmapheresis and even liver transplantation. These options may be most relevant for individuals with the more severe type I disease. In type II disease, much of the literature supports that long-term reduction in serum bilirubin levels can be achieved with continued administration of phenobarbital. We recommend that you continue to work closely with your primary health care provider in monitoring your bilirubin levels and the effectiveness of the prescribed therapy.
References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 3/30/2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 3/30/2011.
What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. 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% Aplasia/Hypoplasia of the iris 90% Nystagmus 90% Visual impairment 90% Blepharophimosis 50% Cataract 50% Corneal erosion 50% Ectopia lentis 50% Glaucoma 50% Keratoconjunctivitis sicca 50% Opacification of the corneal stroma 50% Optic atrophy 50% Photophobia 50% Ptosis 50% Strabismus 50% Abnormality of the genital system 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the sense of smell 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Decreased corneal thickness 7.5% Microcornea 7.5% Ocular albinism 7.5% Optic nerve coloboma 7.5% Sensorineural hearing impairment 7.5% Umbilical hernia 7.5% Aniridia - Autosomal dominant inheritance - Hypoplasia of the fovea - Optic nerve hypoplasia - 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.
How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist.  Additional treatment is adapted to each individual depending on the associated complications.
What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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 palate 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s. Life expectancy is normal. Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.
What are the signs and symptoms of Troyer syndrome? The signs and symptoms of Troyer syndrome can vary, and some people are more severely affected than others. Symptoms typically begin in early childhood. Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. Affected people have progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; learning disorders; and short stature. Mood swings and mood disorders, causing inappropriate euphoria and/or crying, are common. Other features can include drooling; exaggerated reflexes (hyperreflexia) in the legs; uncontrollable movements of the arms and legs (choreoathetosis); skeletal abnormalities; and a bending outward (valgus) of the knees. There is generally a slow, progressive decline in muscle and nerve function, and symptoms worsen over time. Most people need a wheelchair by their 50s or 60s. Affected people typically have a normal life expectancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Troyer 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) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Brachydactyly syndrome - Camptodactyly - Cerebellar atrophy - Childhood onset - Clinodactyly - Difficulty walking - Distal amyotrophy - Drooling - Dysarthria - Dysmetria - Emotional lability - Hammertoe - Hyperextensible hand joints - Hyperplasia of midface - Hyperreflexia - Hypertelorism - Intellectual disability, mild - Knee clonus - Kyphoscoliosis - Lower limb muscle weakness - Motor delay - Pes cavus - Short foot - Short stature - Spastic gait - Spastic paraparesis - Spastic paraplegia - Upper limb spasticity - 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.
What causes Troyer syndrome? Troyer syndrome is caused by mutations in the SPG20 gene. This gene gives the body instructions to make a protein called spartin, which is present in many body tissues, including those of the nervous system. However, the function of this protein is not fully understood. It is thought to play various roles needed for the functions of cells. Troyer syndrome is assumed to be caused by a loss of function of the spartin protein. More research on the normal functions of the spartin protein is needed to better understand exactly how mutations in the SPG20 gene cause the features of Troyer syndrome.
How is Troyer syndrome inherited? Troyer syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier.
How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is used either orally or by intrathecal pump. Tizanidine, dantrolene (with precautions), and Botox have also been useful in reducing muscle spasticity. Daily physical therapy is recommended. Treatment may also include: Occupational therapy, assistive walking devices, and ankle-foot orthotics as needed Oxybutynin to reduce urinary urgency Antidepressants or mood stabilizers to manage emotional or mood disorders Additional information about the management of Troyer syndrome can be viewed on the GeneReviews Web site.
Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center for Disease Control and Prevention's Web site for a more comprehensive list of symptoms. Lyme disease is caused by the bacterium Borrelia burgdorferi, which is transmitted to humans through the bite of infected blacklegged ticks. Certain features of the condition, including whether or not an affected person will develop medication-resistant chronic arthritis, is thought to be influenced by genetic factors (certain human leukocyte antigen genes). Treatment generally includes antibiotics to address the bacterial infection and other medications (i.e. pain medications) to relieve symptoms.
What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme disease. 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) Hypermelanotic macule 90% Arthritis 50% Cranial nerve paralysis 50% Joint swelling 50% Meningitis 50% Abnormality of temperature regulation 7.5% Amaurosis fugax 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Arthralgia 7.5% Encephalitis 7.5% Inflammatory abnormality of the eye 7.5% Insomnia 7.5% Memory impairment 7.5% Migraine 7.5% Muscle weakness 7.5% Myalgia 7.5% Nausea and vomiting 7.5% Paresthesia 7.5% Photophobia 7.5% Skin rash 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.
What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. 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 - Dysarthria - Intellectual disability - Muscle weakness - Muscular hypotonia - Posterior subcapsular cataract - Postural tremor - Short stature - 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.
What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. 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 femur 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Accelerated skeletal maturation 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Genu varum 90% Micromelia 90% Short stature 90% Short toe 90% Cognitive impairment 50% Depressed nasal ridge 50% Epicanthus 50% Frontal bossing 50% Hypertelorism 50% Telecanthus 50% Malar flattening 7.5% Scoliosis 7.5% Anteverted nares - Autosomal recessive inheritance - Biconcave vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Craniosynostosis - Flat face - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular phalanges - Metaphyseal cupping - Metaphyseal widening - Narrow pelvis bone - Platyspondyly - Prominent forehead - Severe short stature - Short finger - Short humerus - Short metacarpal - Short palm - Short phalanx of finger - Thickened calvaria - Tibial bowing - Wide nasal bridge - 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.
What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. 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 - Autosomal dominant inheritance - Neoplasm - Onset - 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.