Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Van Den Bosch syndrome ? 
 What are the signs and symptoms of Van Den Bosch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Den Bosch 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 electroretinogram 90% Abnormality of retinal pigmentation 90% Choroideremia 90% Cognitive impairment 90% Hypohidrosis 90% Myopia 90% Nystagmus 90% Palmoplantar keratoderma 90% Respiratory insufficiency 90% Short stature 90% Sprengel anomaly 90% Visual impairment 90% Abnormality of the skeletal system - Acrokeratosis - Anhidrosis - Intellectual disability - 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) Fatal familial insomnia ? 
 Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible.
What are the symptoms of Fatal familial insomnia ? 
 What are the signs and symptoms of Fatal familial insomnia? The first signs and symptoms of fatal familial insomnia (FFI) generally develop in midlife (40s to 50s) and may include insomnia that worsens over time and vivid dreams when sleep is achieved. As the disease progresses and disturbs the autonomic nervous system (the part of the nervous system that controls involuntary actions), affected people may experience: Elevated blood pressure Episodes of hyperventilation Excessive tearing Sexual and/or urinary tract dysfunction Change in basal body temperature Decreased ability to gaze upwards Jerky eye movements Double vision Dysarthria Many people also develop ataxia (the inability to coordinate movements) which is characterized by a jerky, unsteady, to-and-fro motion of the middle of the body (trunk); an unsteady gait (walking style); and/or uncoordinated movements of the arms and legs. Advancing disease leads to more severe insomnia, worsening ataxia, and confusion. Ultimately, FFI is fatal within a few months to a few years after the development of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Fatal familial insomnia. 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 - Apnea - Ataxia - Autosomal dominant inheritance - Childhood onset - Constipation - Dementia - Diplopia - Dysarthria - Dysautonomia - Dysphagia - Fever - Hyperhidrosis - Insomnia - Myoclonus - Neuronal loss in central nervous system - Urinary retention - Weight 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.
What causes Fatal familial insomnia ? 
 What causes fatal familial insomnia? Fatal familial insomnia (FFI) is caused by a specific change (mutation) in the PRNP gene. PRNP encodes the prion protein. Although the exact function of this protein is unknown, scientists suspect that it plays an important role in the brain. Mutations in the PRNP gene result in an abnormal form of the protein that clumps together and accumulates in the brain. This leads to the destruction of neurons (brain cells) and creates tiny holes in the brain, which give the brain a "sponge-like" appearance when viewed under a microscope. The progressive loss of neurons leads to the many signs and symptoms of FFI.
Is Fatal familial insomnia inherited ? 
 How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Fatal familial insomnia ? 
 Is genetic testing available for fatal familial insomnia? Yes, genetic testing is available for PRNP, the gene known to cause fatal familial insomnia (FFI). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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 fatal familial insomnia diagnosed? A diagnosis of genetic prion disease is typically made based on a combination of the following: Various, adult-onset neurologic signs and symptoms Neuropathologic findings (diagnosis made by examining cells and tissues of the brain under a microscope) A family history consistent with autosomal dominant inheritance PRNP disease-causing mutation The PRNP gene is the only gene in which changes (mutations) are known to cause genetic prion diseases, including fatal familial insomnia. Finding a mutation in this gene is necessary to confirm a diagnosis in a person with symptoms. Testing of the PRNP gene may not detect all disease-causing mutations, so if a mutation is not found, a person may still have the disease. Other studies such as EEG, brain imaging, or examining cerebrospinal fluid may be helpful in supporting a diagnosis, but none of these can diagnose a genetic prion disease on its own.
What are the treatments for Fatal familial insomnia ? 
 How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some of which have shown promising results in animal studies.
What are the symptoms of Corneal hypesthesia, familial ? 
 What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. 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 skeletal system - Autosomal dominant inheritance - Decreased corneal sensation - Recurrent corneal erosions - 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) Neuroleptic malignant syndrome ? 
 Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction. In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown. In some cases, more than one family member can be affected which suggests there may be a genetic component. Upon diagnosis of the condition, the neuroleptic or antipsychotic drug is generally discontinued under a physician's supervision. Medications and/or other interventions may also be recommended to manage symptoms.
What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ? 
 What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. 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) Sensorimotor neuropathy 5% Spastic paraparesis 5% Autosomal recessive inheritance - Bradykinesia - Cirrhosis - Decreased liver function - Dysarthria - Dystonia - Elevated hepatic transaminases - Hepatomegaly - Parkinsonism - Polycythemia - Postural instability - Rigidity - Tremor - 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.
What are the symptoms of Spastic paraplegia 26 ? 
 What are the signs and symptoms of Spastic paraplegia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 26. 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) Cataract 5% Decreased serum testosterone level 5% Nystagmus 5% Urinary urgency 5% Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Difficulty walking - Distal amyotrophy - Dysarthria - Dyskinesia - Dysmetria - Dystonia - Emotional lability - Frequent falls - Hyperreflexia - Intellectual disability, mild - Lower limb spasticity - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic gait - Spastic paraplegia - Toe walking - 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) Idiopathic acute eosinophilic pneumonia ? 
 Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may include fever, cough, fatigue, difficulty breathing (dyspnea), muscle pain, and chest pain. IAEP can progress rapidly to acute respiratory failure. The term idiopathic means the exact cause for the overproduction of eosinophils is not known. Possible triggers of acute eosinophilic pneumonia include cigarette smoking, occupational exposure to dust and smoke, and certain medications. Diagnosis of IAEP generally involves a bronchoscopy and bronchoalveolar lavage (BAL). Treatment with corticosteroids is effective in most cases. Because IAEP often progresses rapidly, respiratory failure can occur; in these cases, mechanical ventilation is required.
What are the symptoms of Idiopathic acute eosinophilic pneumonia ? 
 What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. 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 temperature regulation 90% Chest pain 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of eosinophils 50% Abnormality of the pleura 50% Myalgia 50% 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 Florid papillomatosis of the nipple ? 
 What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. 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 skin - Autosomal dominant 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.
What is (are) Squamous cell carcinoma ? 
 Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable.
What are the treatments for Squamous cell carcinoma ? 
 How might squamous cell carcinoma be treated? Skin cancer generally has a high cure rate if it is treated early. Treatment depends on how big the tumor is, its location, and how far it has spread (metastasis). Methods of treatment for squamous cell carcinoma may include: Curettage and desiccation - scraping away the cancer and using electricity to kill any remaining cancer cells; this is used to treat cancers that are not very large or deep Surgical excision - cutting out of the tumor and stitching up the remaining tissue Radiation therapy (if the skin cancer is located in an area difficult to treat surgically) Microscopically controlled excision (Mohs surgery) - repeated cutting out of small pieces of tissue that are then examined microscopically to check if any cancer has been left behind; repeated application of this technique minimizes the removal of healthy tissue and is cosmetically more satisfying, especially if carried out with a plastic surgeon as part of the medical team. This is more likely to be used for skin cancers on the nose, ears, and other areas of the face. Cryosurgery - freezing and killing the cancer cells Skin creams and medications - may be used to treat superficial (not very deep) squamous cell carcinoma. The outlook for small squamous cell lesions that are removed early and completely is extremely favorable, with about 95% cured if they are removed promptly.
What is (are) Benign schwannoma ? 
 Schwannomas are tumors of the tissue that covers the nerves (nerve sheath). These tumors develop from a type of cell called a Schwann cell, which gives these tumors their name. They are usually benign (not cancerous). Although schwannomas can arise from any nerve in the body, the most common areas include the nerves of the head and neck and those involved with moving the arms and legs. Common symptoms include a slow-growing mass and Tinel's sign (an electric-like shock when the affected area is touched). The cause of schwannomas is unknown, but they sometimes occur in people with certain disorders including some types of neurofibromatosis. Benign schwannomas are typically treated with surgery.
What are the symptoms of Benign schwannoma ? 
 What are the signs and symptoms of schwannomas? Common signs and symptoms of schwannomas include a slow-growing mass and Tinel shock (electric-like shock when affected area is touched). Some people may experience numbness or other neurological symptoms depending on the size and location of the tumor.
What causes Benign schwannoma ? 
 What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, neurofibromatosis type 2 is caused by mutations in the NF2 gene and schwannomatosis is caused by mutations in the SMARCB1 gene and the LZTR1 gene.
Is Benign schwannoma inherited ? 
 Are schwannomas inherited? Most schwannomas are not inherited. The vast majority of schwannomas occur by chance (sporadically) and as a single tumor. In these cases, people typically do not have affected family members. Around 5-10% of people develop multiple schwannomas. In these cases, the schwannomas may be due to an inherited condition which can be passed from parent to child. For example, neurofibromatosis type 2 and schwannomatosis are two conditions known to cause multiple schwannomas. Both of these conditions are inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with neurofibromatosis type 2 or schwannomatosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.