bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. 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 urine homeostasis 90% Anorexia 90% Elevated hepatic transaminases 90% Pruritus 90% Weight loss 90% Nausea and vomiting 50% Abdominal pain 7.5% Biliary tract abnormality 7.5% Cirrhosis 7.5% Hearing impairment 7.5% Malabsorption 7.5% Neoplasm of the liver 7.5% Pancreatitis 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 Immune dysfunction with T-cell inactivation due to calcium entry defect 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 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 recessive inheritance - Difficulty walking - Ectodermal dysplasia - Episodic fever - Failure to thrive - Gowers sign - Heat intolerance - Immunodeficiency - Muscular hypotonia - Myopathy - Recurrent aphthous stomatitis - Recurrent infections - Respiratory insufficiency due to muscle weakness - 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 Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular 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) Exaggerated startle response 5% Holoprosencephaly 5% Retinal dysplasia 5% Agenesis of corpus callosum - Areflexia - Atria septal defect - Autosomal recessive inheritance - Calf muscle hypertrophy - Cataract - Cerebellar cyst - Cerebellar hypoplasia - Congenital muscular dystrophy - Elevated serum creatine phosphokinase - Encephalocele - Flexion contracture - Hydrocephalus - Hypermetropia - Hypoplasia of the brainstem - Hypoplasia of the pyramidal tract - Infantile onset - Intellectual disability - Microphthalmia - Muscle weakness - Muscular hypotonia - Myocardial fibrosis - Myopia - Optic atrophy - Pachygyria - Polymicrogyria - Pulmonic stenosis - Respiratory insufficiency - Retinal detachment - Scoliosis - Seizures - Skeletal muscle atrophy - Spinal rigidity - Strabismus - Transposition of the great arteries - Type II lissencephaly - 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 Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial 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 calvarial morphology 90% Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Microcephaly 90% Optic atrophy 90% Respiratory insufficiency 90% Upslanted palpebral fissure 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the eyebrow 50% Blepharophimosis 50% Epicanthus 50% Long face 50% Microcornea 50% Microdontia 50% Muscle weakness 50% Myopia 50% Narrow face 50% Nystagmus 50% Preauricular skin tag 50% Short philtrum 50% Strabismus 50% Telecanthus 50% Thin vermilion border 50% Wide mouth 50% Choroideremia 7.5% Female pseudohermaphroditism 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Brachycephaly - Carious teeth - Clinodactyly of the 5th finger - Clitoromegaly - Constipation - Diastema - High palate - Intellectual disability - Laryngeal stridor - Long palm - Muscular hypotonia - Narrow palm - Neonatal respiratory distress - Optic disc pallor - Ovoid vertebral bodies - Ptosis - Short nose - Single transverse palmar crease - Smooth philtrum - Sparse eyebrow - 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.
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.
Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth.  This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control.
What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. 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% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked 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 Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of dental morphology 90% Abnormality of the eyelashes 90% Fine hair 90% Reduced number of teeth 90% Delayed eruption of teeth 50% Hyperlordosis 50% Increased number of teeth 50% Palmoplantar keratoderma 50% Scoliosis 50% Sparse lateral eyebrow 50% Abnormality of female internal genitalia 7.5% Abnormality of the hip bone 7.5% Adenoma sebaceum 7.5% Cafe-au-lait spot 7.5% Hypermetropia 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 Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. 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 calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - 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.
SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). In ketoacidosis ketones build-up in the body. Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. Crises need to be addressed immediately. Fortunately these crises tend to respond well to IV fluids including glucose and sodium bicarbonate. Patients with SCOT defiency are symptom free between episodes. This deficiency can be caused by mutations in the OXCT1 gene.
What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. The Human Phenotype Ontology provides the following list of signs and symptoms for SCOT 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) Autosomal recessive inheritance - Episodic ketoacidosis - Ketonuria - 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.
What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux 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 form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - 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 Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge 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% Hearing abnormality 90% Myelomeningocele 90% Ventricular septal defect 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.
What are the signs and symptoms of Autoimmune hepatitis? Symptoms of autoimmune hepatitis range from mild to severe. Fatigue is probably the most common symptom of autoimmune hepatitis. Other symptoms include: an enlarged liver jaundice itching skin rashes joint pain abdominal discomfort spider angiomas, or abnormal blood vessels, on the skin nausea vomiting loss of appetite dark urine pale or gray-colored stools People in advanced stages of the disease are more likely to have symptoms related to chronic liver disease, such as fluid in the abdomenalso called ascitesand mental confusion. Women may stop having menstrual periods. The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hepatitis. 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) Autoimmune antibody positivity - 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.