Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Polycystic kidney disease ? 
 What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture. The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic kidney 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) Polycystic kidney dysplasia 90% Anemia 50% Cystic liver disease 50% Hematuria 50% Hypertension 50% Nephrolithiasis 50% Proteinuria 50% Renal insufficiency 50% Abnormality of prenatal development or birth 7.5% Abnormality of the pancreas 7.5% Abnormality of the respiratory system 7.5% Aneurysm 7.5% Dilatation of the ascending aorta 7.5% Hydrocephalus 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sarcoma 7.5% Autosomal dominant inheritance - Cerebral aneurysm - Colonic diverticula - Hepatic cysts - Heterogeneous - Increased prevalence of valvular disease - 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) Autoimmune autonomic ganglionopathy ? 
 Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.
What are the symptoms of Autoimmune autonomic ganglionopathy ? 
 What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.
What causes Autoimmune autonomic ganglionopathy ? 
 What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.
What are the treatments for Autoimmune autonomic ganglionopathy ? 
 How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.
What are the symptoms of Priapism ? 
 What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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 - Priapism - 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) Oral leukoplakia ? 
 Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cancerous at the time of biopsy and another 8-15% become cancerous over time. The exact cause of oral leukoplakia is not known. Factors that may increase the risk of developing oral leukoplakia include smoking, alcohol use, vitamin deficiencies, malocclusion, and a weakened immune system.Treatment depends on the biopsy results and the size, appearance, and location of the oral leukoplakia. Removal or ablation of the lesion by surgery, laser, or cryotherapy (use of low temperature) may be recommended.
What are the symptoms of Neutropenia lethal congenital with eosinophilia ? 
 What are the signs and symptoms of Neutropenia lethal congenital with eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia lethal congenital with eosinophilia. 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 - Congenital neutropenia - Eosinophilia - Neonatal death - 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) Muscular dystrophy ? 
 Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.
What is (are) Thyroglossal tract cyst ? 
 A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development.
What causes Thyroglossal tract cyst ? 
 Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.
What are the treatments for Thyroglossal tract cyst ? 
 How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and increase the chance for regrowth.
What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? 
 Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? 
 What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. 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% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent nose - 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 Osteoporosis-pseudoglioma syndrome ? 
 What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma 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 form of the vertebral bodies 90% Aplasia/Hypoplasia affecting the eye 90% Bowing of the long bones 90% Cataract 90% Delayed skeletal maturation 90% Joint hypermobility 90% Muscular hypotonia 90% Recurrent fractures 90% Reduced bone mineral density 90% Visual impairment 90% Abnormality of the pupil 50% Cognitive impairment 50% Short stature 50% Abnormal hair quantity 7.5% Depressed nasal bridge 7.5% Kyphosis 7.5% Low posterior hairline 7.5% Obesity 7.5% Optic atrophy 7.5% Absent anterior eye chamber - Autosomal recessive inheritance - Barrel-shaped chest - Blindness - Glioma - Intellectual disability, mild - Iris atrophy - Kyphoscoliosis - Metaphyseal widening - Microcephaly - Microphthalmia - Osteoporosis - Pathologic fracture - Phthisis bulbi - Platyspondyly - Ventricular septal defect - Vitreoretinopathy - 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 Ataxia - hypogonadism - choroidal dystrophy ? 
 What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal 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) Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Incoordination 90% Abnormal upper motor neuron morphology 5% Spasticity 5% Abnormality of metabolism/homeostasis - Areflexia - Autosomal recessive inheritance - Cerebellar atrophy - Chorioretinal dystrophy - Distal amyotrophy - Hypogonadotrophic hypogonadism - Hyporeflexia - Intention tremor - Juvenile onset - Photophobia - Progressive - Progressive visual loss - Retinal dystrophy - Scanning speech - Spinocerebellar atrophy - 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 Mutiple parosteal osteochondromatous proliferations ? 
 What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - 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) Lesch Nyhan syndrome ? 
 Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.
What are the symptoms of Lesch Nyhan syndrome ? 
 What are the signs and symptoms of Lesch Nyhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lesch Nyhan 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 movement 90% Arthritis 90% Behavioral abnormality 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Hyperuricemia 90% Anemia 50% Hematuria 50% Renal insufficiency 50% Abnormality of extrapyramidal motor function - Choreoathetosis - Dysarthria - Dysphagia - Dystonia - Gout (feet) - Hyperreflexia - Hyperuricosuria - Intellectual disability - Megaloblastic anemia - Motor delay - Muscular hypotonia - Nephrolithiasis - Opisthotonus - Short stature - Spasticity - Testicular atrophy - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.