bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's 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) Abnormality of the tricuspid valve 90% Atria septal defect 90% Premature birth 90% Respiratory insufficiency 90% Chest pain 50% Patent ductus arteriosus 50% Abnormality of the endocardium 7.5% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Ebstein's anomaly of the tricuspid valve - Right bundle branch block - Ventricular preexcitation - 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 Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like 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 eyebrow 90% Abnormality of the ribs 90% Arachnodactyly 90% Blepharophimosis 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Convex nasal ridge 90% Depressed nasal bridge 90% Disproportionate tall stature 90% Hallux valgus 90% Hypoplasia of the zygomatic bone 90% Long toe 90% Macrotia 90% Narrow nasal bridge 90% Abnormality of dental morphology 50% Bowing of the long bones 50% Delayed skeletal maturation 50% Elbow dislocation 50% Hypertelorism 50% Limitation of joint mobility 50% Slender long bone 50% Triphalangeal thumb 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Laryngomalacia 7.5% Talipes 7.5% Sclerocornea 5% Autosomal recessive inheritance - Camptodactyly of toe - Craniosynostosis - Dental crowding - Dislocated radial head - Distal ulnar hypoplasia - Elbow flexion contracture - Femoral bowing - Glenoid fossa hypoplasia - High palate - Hypoplasia of the maxilla - Joint contracture of the hand - Knee flexion contracture - Lateral clavicle hook - Long hallux - Long metacarpals - Malar flattening - Narrow foot - Narrow nose - Pectus excavatum - Protruding ear - Single umbilical artery - Slender metacarpals - Stridor - Talipes equinovarus - Thin ribs - Ulnar bowing - 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 Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of female internal genitalia 90% Abnormality of the cranial nerves 90% Abnormality of the metaphyses 90% Abnormality of the pulmonary artery 90% Abnormality of the ribs 90% Abnormality of the thumb 90% Aplasia/Hypoplasia of the lungs 90% Blue sclerae 90% Brachydactyly syndrome 90% Cleft palate 90% Dandy-Walker malformation 90% Intestinal malrotation 90% Kyphosis 90% Macrocephaly 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Renal hypoplasia/aplasia 90% Scoliosis 90% Short stature 90% Ventricular septal defect 90% Vertebral segmentation defect 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.
What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.
Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.
What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.
How might dentinogenesis imperfecta be treated? The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint. Crowns, caps or other forms of dental care are the most commonly used treatments. Dentures or dental implants may be necessary if the majority of teeth are lost. More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links: https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/ http://www.ojrd.com/content/3/1/31
What are the signs and symptoms of CLOVES syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CLOVES 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) Hemihypertrophy 100% Lipoma 75% Lower limb asymmetry 5% Renal hypoplasia/aplasia 5% Scoliosis 5% Spinal dysraphism 5% Tethered cord 5% Abnormality of cardiovascular system morphology - Cranial hyperostosis - Facial asymmetry - Overgrowth - Sandal gap - Splenomegaly - 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 ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase 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) Chronic diarrhea 5% Abnormal facial shape - Autoimmunity - Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Dolichocephaly - Frontal bossing - Hepatomegaly - Low-set ears - Posteriorly rotated ears - Prominent occiput - Proptosis - Relative macrocephaly - Short chin - Splenomegaly - 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.
Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene. Treatment may involve medicines to treat an infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases.
What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.
What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency?  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency.
How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of the gene in each cell is enough to cause the condition because they don't have another X chromosome with a normal copy of the gene. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Fathers cannot pass X-linked traits to their sons.
How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses.
What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren 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 genital system 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Short stature 90% Strabismus 90% Abnormality of movement 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Hypertonia 50% Muscle weakness 50% Nystagmus 50% Pectus carinatum 50% Scoliosis 50% Skeletal muscle atrophy 50% Talipes 50% Microcephaly 7.5% Optic atrophy 7.5% Peripheral neuropathy 7.5% Autosomal recessive inheritance - Centrally nucleated skeletal muscle fibers - Cerebellar cortical atrophy - Congenital cataract - Coxa valga - Cubitus valgus - Dysarthria - Elevated serum creatine phosphokinase - Failure to thrive - Flexion contracture - Gait ataxia - Hypergonadotropic hypogonadism - Infantile onset - Intellectual disability - Kyphosis - Limb ataxia - Pes planus - Progressive muscle weakness - Short metacarpal - Short metatarsal - 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.
Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Affected women may have irregular menstrual periods or difficulty becoming pregnant. Hashimotos syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. The exact cause is unknown but it is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone.
What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's 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) Autoimmune antibody positivity - Autosomal dominant inheritance - Hashimoto thyroiditis - 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 Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. The antibodies "attack" the thyroid, resulting in damage to the gland. Most of the genes associated with Hashimotos syndrome are part of a gene family called the human leukocyte antigen (HLA) complex, which helps the immune system distinguish the body's own proteins from proteins made by viruses and bacteria or other agents. However, the genetic factors have only a small effect on a person's overall risk of developing this condition. Non-genetic factors that may trigger the condition in people at risk may include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production).