Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Chiari malformation type 3 ? 
 What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. 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 of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - 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) Glutaric acidemia type III ? 
 Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients.
What are the symptoms of Glutaric acidemia type III ? 
 What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. 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) Goiter 5% Hyperthyroidism 5% Autosomal recessive inheritance - Diarrhea - Failure to thrive - Glutaric aciduria - Hypertension - Vomiting - 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) Aquagenic pruritus ? 
 Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. The symptoms of the condition are similar to those seen in patients with other conditions; therefore, a thorough evaluation should be performed to rule out other more serious conditions. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying success.
What are the symptoms of Aquagenic pruritus ? 
 What symptoms are observed in patients who have aquagenic pruritus? Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water without an associated rash. The head, palms, soles, and mucosa are usually not affected.
What causes Aquagenic pruritus ? 
 What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.
How to diagnose Aquagenic pruritus ? 
 How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera.
What are the treatments for Aquagenic pruritus ? 
 What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol.
What are the symptoms of Short rib-polydactyly syndrome type 3 ? 
 What are the signs and symptoms of Short rib-polydactyly syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 3. 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 pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Limb undergrowth 90% Narrow chest 90% Respiratory insufficiency 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Abnormal form of the vertebral bodies 50% Congenital hepatic fibrosis 50% Depressed nasal bridge 50% Displacement of the external urethral meatus 50% Epicanthus 50% Frontal bossing 50% Hydrops fetalis 50% Long philtrum 50% Macrocephaly 50% Median cleft lip 50% Postaxial hand polydactyly 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Ectopic anus 7.5% Midline facial cleft 7.5% Omphalocele 7.5% Polycystic kidney dysplasia 7.5% Preaxial hand polydactyly 7.5% Ventriculomegaly 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.
What are the symptoms of Meleda disease ? 
 What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda 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) Lichenification 90% Palmoplantar keratoderma 90% Abnormality of the palate 50% Finger syndactyly 50% Hyperhidrosis 50% Hypertrichosis 50% Ichthyosis 50% Skin ulcer 50% Osteolysis 7.5% Abnormality of the mouth - Autosomal recessive inheritance - Brachydactyly syndrome - Congenital symmetrical palmoplantar keratosis - Erythema - Fragile nails - Infantile onset - 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 Burn-Mckeown syndrome ? 
 What are the signs and symptoms of Burn-Mckeown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown 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) Blepharophimosis 90% Choanal atresia 90% Hypertelorism 90% Abnormality of the cardiac septa 50% Prominent nasal bridge 50% Abnormality of the palate 7.5% Short nose 7.5% Short stature 7.5% 2-3 toe syndactyly - Abnormality of metabolism/homeostasis - Atria septal defect - Autosomal recessive inheritance - Bifid uvula - Bilateral choanal atresia/stenosis - Cleft palate - Cleft upper lip - Conductive hearing impairment - Feeding difficulties in infancy - Hypomimic face - Lower eyelid coloboma - Mandibular prognathia - Narrow mouth - Preauricular skin tag - Protruding ear - Renal hypoplasia - Short palpebral fissure - Short philtrum - Thin vermilion border - Underdeveloped nasal alae - Ventricular septal defect - 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 White sponge nevus of cannon ? 
 What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. 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 - Autosomal dominant inheritance - Oral leukoplakia - 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 Spinocerebellar degeneration and corneal dystrophy ? 
 What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. 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) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - 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) Liposarcoma ? 
 Liposarcoma is a tumor that arises from fat tissue.  This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body.  Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor.
What are the treatments for Liposarcoma ? 
 How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor.  Surgery to remove the tumor is often the first treatment.  When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed.  If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence).   Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas.  Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs.
What are the symptoms of Fructosuria ? 
 What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. 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 recessive inheritance - Impairment of fructose metabolism - 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) Hailey-Hailey disease ? 
 Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares.
What are the symptoms of Hailey-Hailey disease ? 
 What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey 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) Abnormal blistering of the skin 90% Abnormality of the oral cavity 90% Acantholysis 90% Hyperkeratosis 90% Skin ulcer 90% Autosomal dominant inheritance - Erythema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Is Hailey-Hailey disease inherited ? 
 How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an affected parent. Other cases are due to a new mutation in the gene and occur in people with no history of the condition in their family. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.
How to diagnose Hailey-Hailey disease ? 
 Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known.  How is Hailey-Hailey disease diagnosed?  Diagnosis of Hailey-Hailey disease is usually made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be required. Genetic testing is available to confirm the diagnosis of Hailey-Hailey disease, but is not required.
What are the treatments for Hailey-Hailey disease ? 
 How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks. Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used. Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms. Cool compresses and dressings may also help. More severe cases may require systemic antibiotics and/or stronger corticosteroid creams. Carbon dioxide laser treatment may be effective for severe forms. In very severe cases, surgery can be performed to remove the affected skin, but skin grafts are usually necessary to repair the wounds.