Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Gastroschisis ? 
 What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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) Gastroschisis 90% Abnormality of the mesentery 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 is (are) Primary lateral sclerosis ? 
 Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance problems), but may also start with hand clumsiness and changes in speech. The symptoms worsen gradually over time, however people with this condition have a normal life expectancy. Progression of symptoms varies from person to person, some people retain the ability to walk without assistance, others eventually require assistive devices such as canes or wheelchairs. Diagnosis requires extensive testing to exclude other diseases. Treatment may include baclofen and tizanidine to reduce spasticity, quinine or phenytoin to reduce cramps, as well as physical and speech therapy as required.
What are the symptoms of Primary lateral sclerosis ? 
 What are the signs and symptoms of Primary lateral sclerosis? Primary lateral sclerosis (PLS) causes weakness in the voluntary muscles, such as those used to control the legs, arms and tongue. PLS can happen at any age, but it is more common after age 40. A subtype of PLS, known as juvenile primary lateral sclerosis, begins in early childhood. PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). However, primary lateral sclerosis progresses more slowly than ALS, and in most cases is not considered fatal. Signs and symptoms of PLS typically take years to progress. The hallmark of PLS is progressive weakness and spasticity of voluntary muscles. The first symptoms are often tripping or difficulty lifting the legs. Other people may be the first to notice a change in the affected person's gait. Occasionally, speaking (dysarthria) and swallowing (dysphasia) difficulties, or arm weakness are the first symptoms. Speech problems can begin with hoarseness, a reduced rate of speaking, excessive clearing of the throat, or slurred speech when a person is tired. In some cases, speech becomes so slurred that others cannot understand it. Drooling can be a problem as well due to weakened bulbar muscles. Many people report painful muscle spasms and other pain. Other common symptoms may include hyperactive reflexes and Babinkski's sign. Wherever symptoms originate, the legs, arms, hands, and speech and swallowing muscles are eventually affected. As the disease progresses, assistive devices such as canes, walkers or wheelchairs are typically needed. The Human Phenotype Ontology provides the following list of signs and symptoms for Primary lateral sclerosis. 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 upper motor neuron morphology - Adult onset - Autosomal dominant inheritance - Babinski sign - Dysphagia - Hyperreflexia - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - 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.
How to diagnose Primary lateral sclerosis ? 
 How is primary lateral sclerosis diagnosed? There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). Because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS), several tests are done to rule out other diseases. After taking a careful record of an individual's medical history and performing a complete neurological examination, a doctor may order the following tests: Blood work. Blood tests are done to check for infections or other possible causes of muscle weakness. Magnetic resonance imaging (MRI) of the brain and spine. An MRI or other imaging tests may reveal signs of nerve cell degeneration and look for other causes of symptoms, such as structural abnormalities, spinal cord compression, multiple sclerosis and spinal cord tumors. Motor and sensory nerve conduction studies. These tests use a low amount of electrical current to test how quickly the nerves carry impulses through the body, and can indicate damage to nerve cells. Electromyogram (EMG). During this test, the doctor inserts a needle electrode through the skin into various muscles. The electrical activity of the muscles is evaluated when they contract and when they're at rest. This test can measure the involvement of lower motor neurons, which can help to differentiate between PLS and ALS. Cerebrospinal fluid (CSF) analysis. An analysis of the CSF, which is taken during a lumbar puncture in the lower back, can help to rule out multiple sclerosis and other causes of spasticity. After other diseases are ruled out, a doctor may make a preliminary diagnosis of PLS. Sometimes doctors wait three to four years before being sure of the diagnosis, because early ALS can look just like PLS until additional symptoms surface a few years later.
What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? 
 Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? 
 What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. 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 hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - 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) Sertoli cell-only syndrome ? 
 Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). The diagnosis is made based on testicular biopsy findings. Other signs and symptoms are rare, but are secondary to the underlying condition causing SCO syndrome. Most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (AZF) region of the Y chromosome, or Y-chromosome microdeletions (referred to as Y chromosome infertility); Klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. There is not currently a known effective treatment for the condition. When no germ cells are visible in any seminiferous tubules it is considered SCO type I; if germ cells are present in a minority of tubules is it considered SCO type II.
What are the symptoms of Sertoli cell-only syndrome ? 
 What are the signs and symptoms of Sertoli cell-only syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sertoli cell-only 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 metabolism/homeostasis - Abnormality of the thorax - Gynecomastia - Obesity - 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) MYH7-related scapuloperoneal myopathy ? 
 MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.
What are the symptoms of MYH7-related scapuloperoneal myopathy ? 
 What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. 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 - EMG: myopathic abnormalities - Scapuloperoneal myopathy - Slow progression - Weakness of facial musculature - 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 MYH7-related scapuloperoneal myopathy ? 
 What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.
What are the treatments for MYH7-related scapuloperoneal myopathy ? 
 How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.
What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ? 
 What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. 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 eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - 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 is (are) Neurofibromatosis type 1 ? 
 Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person.
What causes Neurofibromatosis type 1 ? 
 What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
Is Neurofibromatosis type 1 inherited ? 
 How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of 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 NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Neurofibromatosis type 1 ? 
 Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. 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 neurofibromatosis type 1 diagnosed? The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1: Six or more cafe-au-lait spots (measuring more than 5 mm across in children and more than 15 mm across in adolescents and adults) Two or more neurofibromas of any type or one plexiform neurofibroma (a neurofibroma that involves many nerves) Freckling in the underarm and/or groin Optic glioma Two or more Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Bone abnormalities including sphenoid dysplasia (absence of bone surrounding the eye) or tibial pseudarthrosis (incomplete healing of a fracture) A parent, sibling, or child who has been diagnosed with NF1 Because many of the features associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children without a family history of the condition. Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known.
What are the treatments for Neurofibromatosis type 1 ? 
 How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource.