Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What is (are) Cockayne syndrome type II ?
Answer: Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.
Question: What are the symptoms of Microphthalmia syndromic 9 ?
Answer: What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. 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% Cognitive impairment 90% Abnormal lung lobation 50% Aplasia/Hypoplasia of the lungs 50% Congenital diaphragmatic hernia 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the larynx 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Cryptorchidism 7.5% Duodenal stenosis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Vesicoureteral reflux 7.5% Low-set ears 5% Truncus arteriosus 5% Agenesis of pulmonary vessels - Anophthalmia - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bilateral lung agenesis - Bilateral microphthalmos - Blepharophimosis - Coarctation of aorta - Diaphragmatic eventration - Horseshoe kidney - Hydronephrosis - Hypoplasia of the uterus - Hypoplastic left atrium - Hypoplastic spleen - Inguinal hernia - Intellectual disability, profound - Patent ductus arteriosus - Pelvic kidney - Pulmonary artery atresia - Pulmonary hypoplasia - Pulmonic stenosis - Renal hypoplasia - Renal malrotation - Respiratory insufficiency - Right aortic arch with mirror image branching - Short stature - Single ventricle - Tetralogy of Fallot - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Andersen-Tawil syndrome ?
Answer: Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by mutations in the KCNJ2 gene. The cause of the remaining cases remains unknown. This condition is inherited in an autosomal dominant pattern.
Question: How to diagnose Andersen-Tawil syndrome ?
Answer: Is genetic testing available for Andersen-Tawil syndrome? Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Andersen-Tawil syndrome diagnosed? The diagnosis of Andersen-Tawil syndrome might be suspected in individuals with either: 1. Two of the following three criteria: Periodic paralysis Symptomatic cardiac arrhythmias or evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval on electrocardiogram (ECG) Characteristic facial features, dental abnormalities, small hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or 2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria. The presence of a mutation in the KCNJ2 gene confirms the diagnosis of Andersen-Tawil syndrome.
Question: What are the symptoms of Dystelephalangy ?
Answer: What are the signs and symptoms of Dystelephalangy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystelephalangy. 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 - Curved distal phalanx of the 5th finger - 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) Charcot-Marie-Tooth disease ?
Answer: Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.
Question: What are the symptoms of Charcot-Marie-Tooth disease ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Abnormality of the voice 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Incoordination 90% Kyphosis 90% Laryngomalacia 90% Scoliosis 90% Skeletal muscle atrophy 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.
Question: What is (are) Peters plus syndrome ?
Answer: Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities such as glaucoma and cataracts are common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.
Question: What causes Peters plus syndrome ?
Answer: Is there anything that I might have done that could have caused or prevented Peters plus syndrome? No. Peters plus syndrome is genetic; therefore, there is nothing you or your partner could have done to cause or to prevent the syndrome.
Question: Is Peters plus syndrome inherited ?
Answer: How is Peters plus syndrome inherited? Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. Parents of individuals with the condition typically do not show signs and symptoms of Peters plus syndrome.
Question: How to diagnose Peters plus syndrome ?
Answer: Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. To learn more about the various options available to you, we recommend you work with your health care provider or a genetics professional to contact the laboratories offering prenatal testing.
Question: What are the treatments for Peters plus syndrome ?
Answer: What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examination Kidney examination Head examination Thyroid testing Hearing assessment Assessment by a ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Agents, like corticosteroids, should be avoided, as they increase the risk of glaucoma.
Question: What are the symptoms of Charcot-Marie-Tooth disease type 1F ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1F? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. 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) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Clusters of axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Juvenile onset - Motor delay - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Variable expressivity - 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) Hypersensitivity vasculitis ?
Answer: Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urticaria); and/or open sores with dead tissue (necrotic ulcers). This condition is caused by an allergic reaction to a drug or other foreign substance. This condition usually goes away over time; but on occasion, people can have repeated episodes.
Question: What is (are) Blepharospasm ?
Answer: Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharospasm occurs in both men and women, although it is especially common in middle-aged and elderly women. Most cases are treated with botulinum toxin injections. The exact cause of benign essential blepharospasm is unknown.
Question: What are the symptoms of Blepharospasm ?
Answer: What are the signs and symptoms of Blepharospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharospasm. 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) Blepharospasm - Middle age onset - Sporadic - 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) Kawasaki syndrome ?
Answer: Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. Sometimes the condition affects the coronary arteries (which carry oxygen-rich blood to the heart). This can lead to serious heart problems. Kawasaki syndrome occurs most often in people of Asian and Pacific Island descent. The cause of Kawasaki disease is unknown. An infection along with genetic factors may be involved. Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting.
Question: What are the symptoms of Kawasaki syndrome ?
Answer: What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki 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) Cheilitis 90% Glossitis 90% Inflammatory abnormality of the eye 90% Lymphadenopathy 90% Proteinuria 90% Recurrent pharyngitis 90% Skin rash 90% Vasculitis 90% Abdominal pain 50% Abnormality of nail color 50% Abnormality of temperature regulation 50% Abnormality of the heart valves 50% Abnormality of the pericardium 50% Arthritis 50% Diarrhea 50% Dry skin 50% Edema 50% Leukocytosis 50% Abnormality of the myocardium 7.5% Arrhythmia 7.5% Arthralgia 7.5% Aseptic leukocyturia 7.5% Behavioral abnormality 7.5% Biliary tract abnormality 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Dilatation of the ascending aorta 7.5% Meningitis 7.5% Migraine 7.5% Nausea and vomiting 7.5% Ptosis 7.5% Restrictive lung disease 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.
Question: What causes Kawasaki syndrome ?
Answer: What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder. What causes Kawasaki syndrome? The cause of Kawasaki syndrome isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics is not well understood. Kawasaki syndrome is not contagious; it can't be passed from one child to another.
Question: Is Kawasaki syndrome inherited ?
Answer: Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown.
Question: What are the treatments for Kawasaki syndrome ?
Answer: How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. We found limited information on the management of Kawasaki disease specifically in adults, however you may find the following articles to be helpful: Dauphin C. et al., Kawasaki disease is also a disease of adults: report of six cases. Arch Mal Coeur Vaiss [serial online]. 2007;100(5):439-447. Sve P, Stankovic K, Smail A, Durand DV, Marchand G, and Broussolle C. Adult Kawasaki disease: report of two cases and literature review. Semin Arthritis Rheum. 2005;34(6):785-792. Sve P, Bui-Xuan C, Charhon A, and Broussolle C. Adult Kawasaki disease. Rev Med Interne [serial online]. 2003;24(9):577-584.In the article listed above by Dauphin C. et al. the authors describe that of the five adult patients with Kawasaki disease who were treated, all progressed favorably after a course of immunoglobulins. In addition, in the article by Sve P. et al., the authors comment that 'although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease.'
Question: What is (are) Neuroferritinopathy ?
Answer: Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.