Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Generalized pustular psoriasis ?
Answer: What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. 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) Cholangitis 5% Furrowed tongue 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal recessive inheritance - Erythema - Fever - Parakeratosis - Psoriasis - Pustule - 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) Schnitzler syndrome ?
Answer: Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.
Question: What causes Schnitzler syndrome ?
Answer: What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.
Question: How to diagnose Schnitzler syndrome ?
Answer: How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features. Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. Please click on the link to access this resource.
Question: What are the treatments for Schnitzler syndrome ?
Answer: How might Schnitzler syndrome be treated? The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success: Nonsteroidal anti-inflammatory drugs (NSAIDs) Corticosteroids Immunosuppressive agents Interleukin-1 receptor antagonists (medications that inhibit the cytokine IL-1) Colchicine Dapsone Thalidomide Rituximab Some studies suggest that phototherapy may improve the rash in some affected people. Medscape Reference and the National Organization for Rare Disorders both offer additional information regarding the treatment and management of Schnitzler syndrome. Please click on the links to access these resources.
Question: What is (are) Variant Creutzfeldt-Jakob disease ?
Answer: There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.
Question: What are the symptoms of Athabaskan brainstem dysgenesis ?
Answer: What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. 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 brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing impairment - 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) Dravet syndrome ?
Answer: Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
Question: What are the symptoms of Dravet syndrome ?
Answer: What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - 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) Cat scratch disease ?
Answer: Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.
Question: What are the symptoms of Cat scratch disease ?
Answer: What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.
Question: What is (are) ADCY5-related dyskinesia ?
Answer: ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy.
Question: What are the symptoms of ADCY5-related dyskinesia ?
Answer: What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - 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 Pillay syndrome ?
Answer: What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay 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 bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - 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 Familial dilated cardiomyopathy ?
Answer: What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. 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) Hypertrophic cardiomyopathy 90% Abnormality of neutrophils 7.5% EMG abnormality 7.5% Lipoatrophy 7.5% Myopathy 7.5% Palmoplantar keratoderma 7.5% Sensorineural hearing impairment 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 is (are) Congenital central hypoventilation syndrome ?
Answer: Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.
Question: Is Congenital central hypoventilation syndrome inherited ?
Answer: How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CCHS can be complex. Most people with CCHS have a new (de novo) mutation in the responsible gene (the PHOX2B gene). De novo mutations occur for the first time in the affected person and are not inherited from a parent. Some people with CCHS have a parent with the condition, and inherit the mutation from that parent. In some cases, an asymptomatic parent of a person with symptoms has a PHOX2B mutation in some of their germ cells (egg or sperm cells, not body cells). This is called germline mosaicism. Some of these parents also have a PHOX2B mutation in some of their body cells. This is called somatic mosaicism. Germline mosaicism with or without somatic mosaicism is present in about 25% of asymptomatic parents of people with CCHS. Parents with mosaicism should have a comprehensive assessment to determine if any features of CCHS are present. It is also recommended that parents of a person with a presumed de novo mutation have genetic testing for the presence of the mutation, including testing that detects mosaicism at low levels.
Question: What are the symptoms of Spastic paraplegia 10 ?
Answer: What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. 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 5% Parkinsonism 5% Ankle clonus - Autosomal dominant inheritance - Babinski sign - Distal sensory impairment - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Pes cavus - Phenotypic variability - Progressive - Scoliosis - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - 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 Familial colorectal cancer ?
Answer: What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. 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) Hereditary nonpolyposis colorectal carcinoma - Neoplasm of the stomach - Renal cell carcinoma - Transitional cell carcinoma of the bladder - Uterine leiomyosarcoma - 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) Peutz-Jeghers syndrome ?
Answer: Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers.