Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Transaldolase deficiency ? 
 What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase 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) Anemia - Asthma - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Coarctation of aorta - Decreased liver function - Deep philtrum - Depressed nasal bridge - Failure to thrive - Hepatic fibrosis - Hepatomegaly - Hepatosplenomegaly - Low-set ears - Micronodular cirrhosis - Oligohydramnios - Pancytopenia - Patent ductus arteriosus - Patent foramen ovale - Poor suck - Short philtrum - Small for gestational age - Splenomegaly - Synophrys - Telangiectasia - Thin vermilion border - Thrombocytopenia - Triangular face - Ventricular septal defect - Wide anterior fontanel - Wide mouth - 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 symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ? 
 What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. 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 nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - 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 symptoms of Otodental dysplasia ? 
 What are the signs and symptoms of Otodental dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Otodental dysplasia. 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 dental enamel 50% Delayed eruption of teeth 50% Dental malocclusion 50% Full cheeks 50% Gingival overgrowth 50% Long face 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Taurodontia 50% Abnormality of the palate 7.5% Abnormality of the pinna 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Heterochromia iridis 7.5% Increased number of teeth 7.5% Iris coloboma 7.5% Lens coloboma 7.5% Long philtrum 7.5% Melanocytic nevus 7.5% Microcornea 7.5% Coloboma 5% Autosomal dominant inheritance - Hypodontia - Pulp stones - 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 is (are) Pseudoxanthoma elasticum ? 
 Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.  PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach.  A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin.  ABCC6 is the only gene known to be associated with this condition.  Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.
What are the symptoms of Pseudoxanthoma elasticum ? 
 What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. 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 coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - 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 to diagnose Pseudoxanthoma elasticum ? 
 What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene.  Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available.  Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.
What are the treatments for Pseudoxanthoma elasticum ? 
 What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum.  Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders.  A team of doctors in other specialties - including dermatology, cardiology, plastic surgery, vascular surgery, genetics, and nutrition - may also help with the management this condition.  Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes.  Several therapies may be effective for slowing the reduction in vision in PXE.  Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.
What is (are) Myotonic dystrophy type 1 ? 
 Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).  Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene.
What are the symptoms of Myotonic dystrophy type 1 ? 
 What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy type 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) Arrhythmia 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cataract 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Dysphagia - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Obsessive-compulsive trait - Polyhydramnios - Respiratory distress - Testicular atrophy - 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.
Is Myotonic dystrophy type 1 inherited ? 
 How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon is called anticipation.  Some individuals diagnosed with Myotonic dystrophy type 1 have an obviously affected parent; others do not. A parent may appear to be unaffected because symptoms may be mild or absent. Genetic testing is available to confirm the presence of the condition.
What are the treatments for Myotonic dystrophy type 1 ? 
 How might myotonic dystrophy type 1 associated vision problems be treated? Treatment of eye and vision problems must be individually tailored. Refractive error and astigmatism can be corrected with eyeglasses, contact lenses, or surgery. Special glasses with eye "crutches" can be used to improve vision in people with ptosis. Surgery can be done to treat ptosis and cataracts, however ptosis often recurs and special precautions must be taken with anesthesia. If severe, strabismus may also be treated with surgery.
What is (are) Chromosome 1p deletion ? 
 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What is (are) Dermal eccrine cylindroma ? 
 Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant).  An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis.  Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time.
What are the symptoms of Mannosidosis, beta A, lysosomal ? 
 What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. 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 facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - 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 is (are) Geographic tongue ? 
 Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition is called "areata migrans" because they  typically disappear from one area and move to another. The tongue is normally covered with tiny, pinkish-white bumps (papillae), which are actually short, fine, hair-like projections. With geographic tongue, patches on the surface of the tongue are missing papillae and appear as smooth, red "islands," often with slightly raised borders. These patches (lesions) give the tongue a map-like, or geographic, appearance. In most cases there are no symptoms but sometimes it is painful when inflamed. The cause is still unknown. Many researchers think it is linked with psoriasis but more research is needed to better understand the connection. Also, hereditary and environmental factors may be involved. The condition is benign and localized, generally requiring no treatment except reassurance. If painful it may be treated with steroid gels or antihistamine mouth rinses.[12267]
What are the symptoms of Geographic tongue ? 
 What are the signs and symptoms of Geographic tongue? The lesions seen in geographic tongue resemble those of psoriasis. Most patients do not experience symptoms. It has been estimated that about 5% of individuals who have geographic tongue complain of sensitivity to hot or spicy foods when the their lesions are active. The Human Phenotype Ontology provides the following list of signs and symptoms for Geographic tongue. 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 - Furrowed tongue - 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 Geographic tongue ? 
 What causes geographic tongue? Is it genetic? The exact cause of geographic tongue has not been identified. However, because the condition may be present in several members of the same family, genetics may increase a person's chances of developing the condition. A study by Guimares (2007) showed that a specific variant of a gene called IL-1B (interleukin-1 beta) is associated with an increased risk of developing geographic tongue and suggests a genetic basis for the development of the disease. Further research may result in a better understanding of the genetic influences involved in the development of geographic tongue.
What are the treatments for Geographic tongue ? 
 What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. With severe symptoms, topical corticosteroids, zinc supplements, and topical anesthetic rinses seem to reduce the discomfort in some patients.