Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Melanoma astrocytoma syndrome ? 
 What are the signs and symptoms of Melanoma astrocytoma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Melanoma astrocytoma 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) Medulloblastoma 50% Meningioma 50% Astrocytoma - Autosomal dominant inheritance - Cutaneous melanoma - 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) Familial exudative vitreoretinopathy ? 
 Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
Is Familial exudative vitreoretinopathy inherited ? 
 How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
What are the treatments for Familial exudative vitreoretinopathy ? 
 How might familial exudative vitreoretinopathy be treated? Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment.
What is (are) X-linked sideroblastic anemia ? 
 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.
What are the symptoms of X-linked sideroblastic anemia ? 
 What are the signs and symptoms of X-linked sideroblastic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked sideroblastic anemia. 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) Anemia 90% Abnormality of the cardiovascular system 7.5% Abnormality of the spleen 7.5% Irregular hyperpigmentation 7.5% Respiratory insufficiency 7.5% Type II diabetes mellitus 7.5% Hypochromic microcytic anemia - Macrocytic anemia - Sideroblastic anemia - Variable expressivity - 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.
What are the symptoms of Medulloblastoma ? 
 What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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 - Medulloblastoma - 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 Desmosterolosis ? 
 What are the signs and symptoms of Desmosterolosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmosterolosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cleft palate 90% Cognitive impairment 90% Hypertonia 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Abnormality of the ribs 50% Aplasia/Hypoplasia involving the nose 50% Depressed nasal bridge 50% Large earlobe 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Nystagmus 50% Seizures 50% Strabismus 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Anomalous pulmonary venous return 7.5% Aplasia/Hypoplasia of the skin 7.5% Epicanthus 7.5% Frontal bossing 7.5% Hydrocephalus 7.5% Increased bone mineral density 7.5% Intestinal malrotation 7.5% Limb undergrowth 7.5% Macrocephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Talipes 7.5% Abnormality of cholesterol metabolism 2/2 Aplasia/Hypoplasia of the corpus callosum 2/2 Cleft palate 2/2 Alveolar ridge overgrowth 1/2 Ambiguous genitalia, female 1/2 Ambiguous genitalia, male 1/2 Bilateral talipes equinovarus 1/2 Cupped ear 1/2 Epicanthus 1/2 Frontal bossing 1/2 Generalized osteosclerosis 1/2 Gingival fibromatosis 1/2 Hypoplastic nasal bridge 1/2 Joint contracture of the hand 1/2 Low-set ears 1/2 Macrocephaly 1/2 Microcephaly 1/2 Patent ductus arteriosus 1/2 Posteriorly rotated ears 1/2 Rhizomelia 1/2 Total anomalous pulmonary venous return 1/2 Anteverted nares - Autosomal recessive inheritance - Failure to thrive - Partial agenesis of the corpus callosum - Phenotypic variability - Relative macrocephaly - Short nose - Spasticity - 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) Nonseminomatous germ cell tumor ? 
 Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type). Possible early signs of this cancer include chest pain and breathing problems.
What is (are) Wildervanck syndrome ? 
 Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears.  It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss.   The cause of Wildervanck syndrome is unknown.  In most cases, affected individuals have no family history of the condition.
What are the symptoms of Wildervanck syndrome ? 
 What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck 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) Sensorineural hearing impairment 90% Short neck 90% Vertebral segmentation defect 90% Ectopia lentis 7.5% Facial asymmetry 7.5% Facial palsy 7.5% Low posterior hairline 7.5% Meningocele 7.5% Optic atrophy 7.5% Webbed neck 7.5% Abnormality of the outer ear - Fused cervical vertebrae - Hearing impairment - Preauricular skin tag - Pseudopapilledema - 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 Wildervanck syndrome ? 
 What causes Wildervanck syndrome? The exact cause of Wildervanck syndrome is not known.  It is suspected to be a polygenic condition, meaning that many genetic factors may be involved.
Is Wildervanck syndrome inherited ? 
 How is Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance.  In most cases, only one person in a family is affected.  These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome.  Because this syndrome occurs mostly in females, it is possible that this condition has X-linked dominant inheritance.  The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth.
What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? 
 What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. 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 clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - Sparse scalp hair - 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) Pyle disease ? 
 Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.
What are the symptoms of Pyle disease ? 
 What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle 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) Genu valgum 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Mandibular prognathia 50% Prominent supraorbital ridges 50% Recurrent fractures 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Abnormality of the thorax - Arthralgia - Autosomal recessive inheritance - Limited elbow extension - Metaphyseal dysplasia - Muscle weakness - Platyspondyly - Thickened calvaria - 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 Pyle disease inherited ? 
 Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.
What is (are) Prinzmetal's variant angina ? 
 Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold, emotional stress, alcohol withdrawal, or vasoconstricting medications. The symptoms of this condition usually respond to treatment. Individuals with Prinzmetals' variant angina may have a higher risk for heart attack or arrhythmia.
What are the symptoms of Prinzmetal's variant angina ? 
 What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, or arm Often occurs at rest Typically occurs at the same time each day, usually between midnight and 8am. Duration of pain is 5 to 30 minutes Pain is relieved by nitroglycerin Loss of consciousness
What causes Prinzmetal's variant angina ? 
 What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood flow. A prolonged spasm can cause chest pain, or even a heart attack (myocardial infarction).
What are the treatments for Prinzmetal's variant angina ? 
 What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve blood and oxygen flow. Medications may also include beta-blockers; however, in some individuals, beta-blockers may be harmful.
What is (are) Myxopapillary ependymoma ? 
 Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood). Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine, but typically includes aggressive surgery. Management may also include chemotherapy and radiation therapy.
What are the treatments for Myxopapillary ependymoma ? 
 How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children. Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body.  The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease. The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved.