Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ? 
 What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. 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 - Hyperlysinemia - Neonatal hypotonia - Respiratory acidosis - 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) Syndactyly type 3 ? 
 Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the GJA1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.
What are the symptoms of Syndactyly type 3 ? 
 What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 50% Short toe 7.5% 4-5 finger syndactyly - Absent middle phalanx of 5th finger - Autosomal dominant inheritance - Short 5th finger - 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 Syndactyly type 3 inherited ? 
 How is syndactyly type 3 inherited? Syndactyly type 3 has been shown to be inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene is sufficient to cause the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene and a 50% chance of inheriting the normal gene and being unaffected.
What is (are) Opitz G/BBB syndrome ? 
 Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis (hypospadias). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening (imperforate anus), agenesis of the corpus callosum, and facial abnormalities. These features may vary, even among members of the same family. There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome. Treatment depends on the individuals specific needs.
What causes Opitz G/BBB syndrome ? 
 What causes Opitz G/BBB syndrome? The X-linked form of Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a specific protein called midline-1. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the movement of cells (cell migration). The MID1 gene is a member of a group of genes called the TRIM (tripartite motif) family. The proteins produced from this large family of genes are involved in many cellular activities. Primarily, TRIM proteins play a role in the cell machinery that breaks down (degrades) unwanted proteins. As part of its protein degrading function, midline-1 is responsible for recycling certain proteins, including phosphatase 2A (PP2A), integrin alpha-4 (ITGA4), and serine/threonine-protein kinase 36 (STK36). The recycling of these three proteins so they can be reused instead of broken down is essential because they are needed for normal cellular functioning. Mutations in the MID1 gene lead to a decrease in midline-1 function, which prevents this protein recycling. As a result, certain proteins are not recycled, and they accumulate in cells. This buildup impairs microtubule function, resulting in problems with cell division and migration. Researchers speculate that the altered midline-1 protein affects how the cells divide and migrate along the midline of the body during development, resulting in the features of Opitz G/BBB syndrome. Some people who have a family history of X-linked Opitz G/BBB syndrome have no detectable MID1 mutation. The reason for this is not yet known, although some researchers have suggested the involvement of other unknown genes. The autosomal dominant form of Opitz G/BBB syndrome is caused by a deletion of a small piece of chromosome 22, specifically 22q11.2, which is why researchers consider this condition to be part of 22q11.2 deletion syndrome. It is not yet known which deleted gene(s) within this region of chromosome 22 specifically cause the signs and symptoms of Opitz G/BBB syndrome. In others with autosomal dominant Opitz G/BBB syndrome, the cause is related to a mutation in the SPECCIL gene. Click on the gene name to learn more about its role in the development of this condition.
Is Opitz G/BBB syndrome inherited ? 
 How is Opitz G/BBB syndrome inherited? Opitz G/BBB syndrome often has an X-linked  pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes (the other sex chromosome is the Y chromosome). In most cases, males experience more severe symptoms of the disorder than females. This is because females have two different X chromosomes in each cell, and males have one X chromosome and one Y chromosome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons, because fathers only pass a Y chromosome on to their sons (which is what makes them male). In some cases, an affected person inherits a MID1 mutation from an affected parent, while in other cases, it may result from a new mutation in the affected individual. These cases occur in people with no history of the disorder in their family. A female who has the X-linked form of Opitz G/BBB syndrome has a 25% (1 in 4) chance to have a daughter with the mutation, a 25% chance to have a son with the mutation, a 25% chance to have an unaffected daughter, and a 25% chance to have an unaffected son. This also means that there is a 50% chance, with each pregnancy, for the child to inherit the mutation. A male with the X-linked dominant form of Opitz G/BBB syndrome will pass the mutation on to all of his daughters and none of his sons. Researchers have also described an autosomal dominant form of Opitz G/BBB syndrome caused by a deletion in one copy of chromosome 22 in each cell. In some cases, an affected person inherits the chromosome with a deleted segment from a parent, while in other cases, the condition results from a new deletion in the affected individual. These cases occur in people with no history of the disorder in their family. Males and females with the autosomal dominant form of Opitz G/BBB syndrome usually have the same degree of severity of symptoms. A male or female who has the autosomal dominant form of Opitz G/BBB syndrome has a 50% (1 in 2) chance with each pregnancy for the child (male or female) to inherit the genetic abnormality.
How to diagnose Opitz G/BBB syndrome ? 
 How is Opitz G/BBB syndrome diagnosed? The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. Molecular genetic testing for mutations in the MID1 gene is available for confirmation. Between 15 and 45% of males with clinically diagnosed Opitz G/BBB syndrome are found to have a mutation in this gene.
What are the treatments for Opitz G/BBB syndrome ? 
 How might Opitz G/BBB syndrome be treated? Because of the wide range of signs and symptoms that may be present in affected individuals, management of Opitz G/BBB syndrome typically incorporates a multidisciplinary team consisting of various specialists. Treatment for the condition may include surgery for significant abnormalities involving the larynx, trachea and/or esophagus; surgical intervention as needed for hypospadias, cleft lip and/or cleft palate, and imperforate anus; therapy for speech problems; surgical repair as needed for heart defects; neuropsychological support; and special education services.
What is (are) Rickets ? 
 Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.
What are the symptoms of Rickets ? 
 What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow joints Teeth abnormalities
What causes Rickets ? 
 What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet Is breastfed without receiving vitamin D supplements Can't make or use vitamin D because of a medical disorder such as celiac disease Has an inherited disorder that affects vitamin D levels
How to diagnose Rickets ? 
 How is rickets diagnosed? Rickets is typically diagnosed using specific blood tests and x-rays. Blood tests usually show low levels of calcium and phosphorus and high levels of alkaline phosphatase. Bone x-rays may show areas with calcium loss or changes in bone shape. Bone biopsies are rarely performed, but can confirm the diagnosis of rickets.
What are the treatments for Rickets ? 
 What treatment is available for rickets? The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. If rickets is caused by an inherited disorder or another medical condition, a healthcare provider would determine the appropriate treatment.
What is (are) Variant Creutzfeldt-Jakob disease ? 
 There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.
What is (are) Benign rolandic epilepsy (BRE) ? 
 Benign rolandic epilepsy is the most common form of childhood epilepsy.  It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age.  This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime.  Treatment is usually not prescribed, since the condition tends to disappear by puberty.
What are the symptoms of Benign rolandic epilepsy (BRE) ? 
 What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child.  The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner side of the cheek.  The seizure may also involve the throat which may make speech unclear and difficult to understand.   Occasionally, both sides of the body may be affected, which can lead to loss of consciousness causing stiffness and jerking movements of the arms and legs.  The child may also be incontinent.  After an episode, a child may be sleepy and doze for a few hours. The Human Phenotype Ontology provides the following list of signs and symptoms for Benign rolandic epilepsy (BRE). 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) Bilateral convulsive seizures - EEG with centrotemporal focal spike waves - 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 causes Benign rolandic epilepsy (BRE) ? 
 What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance.  Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped to the same region.
What are the treatments for Benign rolandic epilepsy (BRE) ? 
 What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.
What is (are) Adult-onset Still's disease ? 
 Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term "adult Still's disease" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications.
What are the symptoms of Adult-onset Still's disease ? 
 What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's 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) Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Hepatomegaly 90% Joint swelling 90% Leukocytosis 90% Pruritus 90% Restrictive lung disease 90% Skin rash 90% Splenomegaly 90% Urticaria 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Mediastinal lymphadenopathy 50% Myalgia 50% Abnormality of lipid metabolism 7.5% Abnormality of the myocardium 7.5% Bone marrow hypocellularity 7.5% Cartilage destruction 7.5% Elevated hepatic transaminases 7.5% Meningitis 7.5% Recurrent pharyngitis 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 causes Adult-onset Still's disease ? 
 What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove or disprove either theory.
What are the symptoms of Osteogenesis imperfecta Levin type ? 
 What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin 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) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - 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.