Druvith/transformed_medDataset huggingface dataset:
What is (are) Juvenile-onset dystonia ? 
 Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases. Changes (mutations) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition. Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.
What are the symptoms of Juvenile-onset dystonia ? 
 What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. 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 immune system physiology 90% Abnormality of the hip bone 90% Abnormality of the tongue 90% Cognitive impairment 90% Developmental regression 90% Feeding difficulties in infancy 90% Gastrointestinal dysmotility 90% High forehead 90% Hypertelorism 90% Kyphosis 90% Micromelia 90% Oral cleft 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Sprengel anomaly 90% Cataract 50% Visual impairment 50% Achalasia - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Externally rotated hips - Generalized dystonia - Hypoplastic scapulae - Intellectual disability, mild - Kyphoscoliosis - Mild global developmental delay - Small for gestational age - 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 Oto-palato-digital syndrome type 1 ? 
 What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. 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 nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - X-linked 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 are the symptoms of Neuropathy, distal hereditary motor, Jerash type ? 
 What are the signs and symptoms of Neuropathy, distal hereditary motor, Jerash type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, distal hereditary motor, Jerash type. 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) Split hand 5% Autosomal recessive inheritance - Babinski sign - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Pes cavus - Progressive - Spinal muscular 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 Macrocephaly-capillary malformation ? 
 What are the signs and symptoms of Macrocephaly-capillary malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly-capillary malformation. 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) Arteriovenous malformation 90% Asymmetric growth 90% Facial asymmetry 90% Finger syndactyly 90% Foot polydactyly 90% Hand polydactyly 90% Macrocephaly 90% Telangiectasia of the skin 90% Toe syndactyly 90% Visceral angiomatosis 90% Wide mouth 90% Aplasia/Hypoplasia of the cerebellum 50% Cognitive impairment 50% Cutis marmorata 50% Frontal bossing 50% Full cheeks 50% High forehead 50% Hydrocephalus 50% Hypermelanotic macule 50% Joint hypermobility 50% Muscular hypotonia 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Arnold-Chiari malformation 7.5% Arrhythmia 7.5% Cerebral ischemia 7.5% Deeply set eye 7.5% Depressed nasal bridge 7.5% Optic atrophy 7.5% Broad forehead - Cavum septum pellucidum - Epicanthus - Hernia - Hypertelorism - Intellectual disability - Joint laxity - Large earlobe - Leukemia - Megalencephaly - Meningioma - Microphthalmia - Nephroblastoma (Wilms tumor) - Overgrowth - Polydactyly - Polymicrogyria - Progressive macrocephaly - Seizures - Smooth philtrum - Somatic mutation - Sporadic - Syndactyly - 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 is (are) Infectious arthritis ? 
 Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself. In reactive arthritis, joint inflammation develops weeks, months or even years after the infection. Reactive arthritis happens most commonly after infections of the genital and gastrointestinal tracts. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.
What is (are) Pilocytic astrocytoma ? 
 Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.
What are the symptoms of Pilocytic astrocytoma ? 
 What are the signs and symptoms of pilocytic astrocytoma?  People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus.
What causes Pilocytic astrocytoma ? 
 What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.
Is Pilocytic astrocytoma inherited ? 
 Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. Although most individuals with a pilocytic astrocytoma do not have an underlying genetic condition, astrocytomas have been associated with a few "predisposing" genetic syndromes. Individuals with these syndromes will not necessarily develop one; these tumors just occur with a greater frequency in affected individuals. Genetic syndromes in which astrocytomas have been reported to occur include: neurofibromatosis type 1 Turcot syndrome Li-Fraumeni syndrome tuberous sclerosis All of these genetic conditions follow an autosomal dominant pattern of inheritance. Individuals who are interested in learning about personal genetic risks for these conditions and/or genetic testing options for themselves or family members should speak with a genetics professional.
What is (are) Sturge-Weber syndrome ? 
 Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.
What are the symptoms of Sturge-Weber syndrome ? 
 What are the signs and symptoms of Sturge-Weber syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sturge-Weber 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) Seizures 90% Attention deficit hyperactivity disorder 50% Cerebral ischemia 50% Cognitive impairment 50% Glaucoma 50% Hyperreflexia 50% Optic atrophy 50% Abnormality of the retinal vasculature 7.5% Arnold-Chiari malformation 7.5% Autism 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Choroideremia 7.5% Conjunctival telangiectasia 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Gingival overgrowth 7.5% Hearing abnormality 7.5% Heterochromia iridis 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Retinal detachment 7.5% Visual impairment 7.5% Arachnoid hemangiomatosis - Buphthalmos - Choroidal hemangioma - Facial hemangioma - Intellectual disability - Sporadic - 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 treatments for Sturge-Weber syndrome ? 
 What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. A major benefit of laser treatment for a PWS is that it can help to minimize psychological problems associated with the social consequences of having a PWS. It has been shown that large facial port-wine stains are associated with an increase in mood and social problems in children older than 10 years of age.Most experts agree that there is little risk associated with the use of PDL in a child with Sturge-Weber syndrome (SWS), provided that anticonvulsant therapy is maintained and that adequate care is taken. The level of pain associated with laser treatment varies. Management of anesthesia should be carefully planned to minimize the potential for secondary effects. Few children with SWS achieve complete clearance of their PWS with laser treatment; PDL does have limitations when large areas or dermatomal patterns are involved.
What is (are) Multiple endocrine neoplasia type 1 ? 
 Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors.
What causes Multiple endocrine neoplasia type 1 ? 
 What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 result in a defective protein that is unable to carry out its normal role. This leads to the development of the many different types of tumors found in MEN1.
Is Multiple endocrine neoplasia type 1 inherited ? 
 How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) 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 MEN1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Multiple endocrine neoplasia type 1 ? 
 Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). 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 multiple endocrine neoplasia, type 1 diagnosed? A diagnosis of multiple endocrine neoplasia, type 1 (MEN1) is based on the presence of two of the following endocrine tumors: parathyroid tumors; pituitary tumors; and/or stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors. People with only one of the tumors may also receive a diagnosis of MEN1 if they have other family members with the condition. Identification of a change (mutation) in the MEN1 gene can be used to confirm the diagnosis. In addition to a complete physical exam and medical history, laboratory tests that evaluate the levels of certain hormones in the blood or urine are often used detect the different types of tumors found in MEN1. Imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), and/or endoscopic ultrasound may be recommended to confirm the location and size of the tumors. Some people may also need a biopsy of the tumor to confirm the diagnosis.
What are the treatments for Multiple endocrine neoplasia type 1 ? 
 How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life. Recommended screening includes specific types of imaging studies every 3-5 years: Head magnetic resonance imaging (MRI scan) begining at age 5. Abdominal computed tomography (CT scan) or abdominal MRI scan beginning at age 20. Annual blood tests are also recommended, which evaluate the levels of certain substances that can be elevated if an MEN1-associated tumor is present: Prolactin concentrations, which can be used to screen for pituitary tumors, are measured beginning at age 5. Calcium concentrations, which can be used to screen for parathyroid tumors, are measured beginning at age 8. Gastrin concentrations, which can be used to screen for gastrinomas (a specific type of gastro-entero-pancreatic tract tumor) are measured beginning at age 20. When a tumor is detected through screening, the best treatment options depend on many factors, including the size, location, and type of tumor; and whether or not the tumor is "functional" (releasing hormones). Many tumors are treated with surgery. If a tumor is functional, removal of the affected endocrine gland often resolves health problems that may be present as a result of elevated hormones. In some cases, functional tumors can be treated with medications that block the function or lower the levels of the overproduced hormone. Chemotherapy or radiation therapy may also be used to to shrink or destroy tumors.
What is (are) Beare-Stevenson cutis gyrata syndrome ? 
 Beare-Stevenson  cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.