Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Late-onset retinal degeneration ?
Answer: What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. 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) Adult-onset night blindness - Autosomal dominant inheritance - Retinal degeneration - Rod-cone dystrophy - Scotoma - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Frias syndrome ?
Answer: What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias 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) Aplasia/Hypoplasia affecting the eye 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Cryptorchidism 90% Downturned corners of mouth 90% External ear malformation 90% High forehead 90% Muscular hypotonia 90% Optic atrophy 90% Scrotal hypoplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Diabetes insipidus 50% Malar flattening 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Abnormality of the metacarpal bones 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Delayed skeletal maturation 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Prenatal movement abnormality 7.5% Primary adrenal insufficiency 7.5% Renal hypoplasia/aplasia 7.5% Short toe 7.5% Single transverse palmar crease 7.5% Toe syndactyly 7.5% Cupped ear - Hypertelorism - Posteriorly rotated ears - Proptosis - Ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Wolff-Parkinson-White syndrome ?
Answer: Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by mutations in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner.
Question: What are the symptoms of Wolff-Parkinson-White syndrome ?
Answer: What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White 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) Arrhythmia 90% Cardiomyopathy - Palpitations - Paroxysmal atrial fibrillation - Paroxysmal supraventricular tachycardia - Prolonged QRS complex - Shortened PR interval - Stroke - Sudden cardiac death - Ventricular preexcitation with multiple accessory pathways - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What causes Wolff-Parkinson-White syndrome ?
Answer: What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This extra electrical pathway is present at birth. A mutation in the PRKAG2 gene is the cause of a small percentage of cases of the disorder. Otherwise, little is known about why this extra pathway develops.
Question: Is Wolff-Parkinson-White syndrome inherited ?
Answer: Is Wolff-Parkinson-White syndrome inherited?
Question: What are the symptoms of Taurodontism, microdontia, and dens invaginatus ?
Answer: What are the signs and symptoms of Taurodontism, microdontia, and dens invaginatus? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontism, microdontia, and dens invaginatus. 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) Microdontia - Pulp stones - Taurodontia - 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.
Question: What is (are) Pontocerebellar hypoplasia type 2 ?
Answer: Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
Question: What are the symptoms of Harrod Doman Keele syndrome ?
Answer: What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele 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 nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Abnormality of the teeth 90% Arachnodactyly 90% Cognitive impairment 90% Hypotelorism 90% Intrauterine growth retardation 90% Long face 90% Microcephaly 90% Narrow face 90% Narrow mouth 90% Pointed chin 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the shoulder 50% Cataract 50% Cerebral cortical atrophy 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hypopigmented skin patches 50% Joint hypermobility 50% Kyphosis 50% Multicystic kidney dysplasia 50% Scoliosis 50% Seizures 50% Abnormal facial shape - Aganglionic megacolon - Dental malocclusion - External genital hypoplasia - Failure to thrive - High palate - Hypospadias - Intellectual disability - Long nose - Macrotia - Malrotation of small bowel - Pyloric stenosis - Renal cortical microcysts - Varicose veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What causes Williams syndrome ?
Answer: What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is unknown.
Question: What is (are) Chromosome 6p deletion ?
Answer: Chromosome 6p 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 6. 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 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Question: What are the symptoms of Short stature syndrome, Brussels type ?
Answer: What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels 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 metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Hypomelia mullerian duct anomalies ?
Answer: What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct 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) Abnormal dermatoglyphics 50% Abnormality of female internal genitalia 50% Abnormality of the elbow 50% Abnormality of the humerus 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Hypoplasia of penis 50% Microcephaly 50% Micromelia 50% Short stature 50% Split hand 50% Hypothyroidism 7.5% Postaxial hand polydactyly 7.5% Strabismus 7.5% Autosomal dominant inheritance - Longitudinal vaginal septum - Uterus didelphys - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Swyer-James syndrome ?
Answer: Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood.
Question: What are the symptoms of Swyer-James syndrome ?
Answer: What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impairment.
Question: What causes Swyer-James syndrome ?
Answer: What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome.
Question: What are the treatments for Swyer-James syndrome ?
Answer: How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms.
Question: What are the symptoms of Robinow Sorauf syndrome ?
Answer: What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf 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) Autosomal dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ?
Answer: 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.