question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
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What is (are) Diabetic Retinopathy ? | In this test, a special dye is injected into your arm. Pictures are taken as the dye passes through the blood vessels in your retina. The test allows your eye care professional to identify any leaking blood vessels and recommend treatment. | [
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What are the symptoms of Dumping Syndrome ? | The symptoms of early and late dumping syndrome are different and vary from person to person. Early dumping syndrome symptoms may include
- nausea - vomiting - abdominal pain and cramping - diarrhea - feeling uncomfortably full or bloated after a meal - sweating - weakness - dizziness - flushin... | [
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What are the symptoms of Pallister-Killian mosaic syndrome ? | What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | [
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Is Meckel syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, 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 typically do not show signs and symptoms of the condition. | [
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What causes X-linked dominant scapuloperoneal myopathy ? | What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy. | [
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How to diagnose Anemia ? | Your doctor will diagnose anemia based on your medical and family histories, a physical exam, and results from tests and procedures.
Because anemia doesn't always cause symptoms, your doctor may find out you have it while checking for another condition.
Medical and Family Histories
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What is (are) Teenage Pregnancy ? | Most teenage girls don't plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother and the baby. Often, teens don't get prenatal care soon enough, which can lead to problems later on. They have a higher risk for pregnancy-related high blood pressure and its complications. Risks for... | [
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Is Adenoid cystic carcinoma inherited ? | Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of ... | [
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How many people are affected by Crigler-Najjar syndrome ? | Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million newborns worldwide. | [
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What are the symptoms of Adult Non-Hodgkin Lymphoma ? | Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. These signs and symptoms may be caused by adult non-Hodgkin lymphoma or by other conditions. Check with your doctor if you have any of the following: - Swelling in the lymph nodes... | [
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What to do for Abdominal Adhesions ? | Researchers have not found that eating, diet, and nutrition play a role in causing or preventing abdominal adhesions. A person with a partial intestinal obstruction may relieve symptoms with a liquid or low- fiber diet, which is more easily broken down into smaller particles by the digestive system. | [
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What are the symptoms of Lamellar ichthyosis ? | What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. 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 Dicti... | [
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What are the genetic changes related to Lafora progressive myoclonus epilepsy ? | Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain. Studies suggest that l... | [
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What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to brea... | [
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Is Dominant dystrophic epidermolysis bullosa inherited ? | How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individual... | [
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What are the treatments for Mevalonic aciduria ? | How might mevalonic aciduria be treated? Treatment of mevalonic aciduria remains a challenge. There is no standard treatment that is effective in all patients, so it remains mainly supportive. Treatment with simvastatin (an inhibitor of hydroxymethylglutaryl coenzyme A reductase, the enzyme that catalyzes the formation... | [
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What is (are) Parasites - Leishmaniasis ? | Leishmaniasis is a parasitic disease that is found in parts of the tropics, subtropics, and southern Europe. Leishmaniasis is caused by infection with Leishmania parasites, which are spread by the bite of infected sand flies. There are several different forms of leishmaniasis in people. The most common forms are cutane... | [
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What is (are) Acoustic Neuroma ? | An acoustic neuroma is a benign tumor that develops on the nerve that connects the ear to the brain. The tumor usually grows slowly. As it grows, it presses against the hearing and balance nerves. At first, you may have no symptoms or mild symptoms. They can include - Loss of hearing on one side - Ringing i... | [
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What are the symptoms of Cataract, posterior polar, 1 ? | What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 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 Medline... | [
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What are the treatments for Intervertebral disc disease ? | How might intervertebral disc disease be treated? In the absence of red flags, the initial approach to treatment is typically conservative and includes physical therapy and pain medications. In 90% of affected individuals, acute attacks of sciatica usually improve within 4 to 6 weeks without surgical intervention. In c... | [
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What is (are) Mercury poisoning ? | Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental filli... | [
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What are the symptoms of Colpocephaly ? | What are the symptoms of colpocephaly? Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been ... | [
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What are the symptoms of Camptobrachydactyly ? | What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. 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 Dicti... | [
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What are the symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance ? | What are the signs and symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. If the information is ... | [
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What is (are) Ataxia telangiectasia ? | Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oc... | [
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Is Kawasaki disease inherited ? | A predisposition to Kawasaki disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. Children with affected siblings have a tenfold higher ri... | [
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What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? | What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. If the information is available, the table below includes how often ... | [
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What are the treatments for trisomy 18 ? | These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | [
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What is (are) Coronavirus Infections ? | Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. But, some coronaviruses can ca... | [
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How many people are affected by osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people. | [
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Do you have information about Uncommon Infant and Newborn Problems | Summary : It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the problem is serious or how to treat it. If you have concerns about your baby's health, call your health care provider right away. Learning information about your baby's ... | [
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Is Familial Mediterranean fever inherited ? | How is familial Mediterranean fever (FMF) inherited? FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and a... | [
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What are the genetic changes related to abdominal wall defect ? | No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. During th... | [
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What are the symptoms of Microphthalmia associated with colobomatous cyst ? | What are the signs and symptoms of Microphthalmia associated with colobomatous cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia associated with colobomatous cyst. If the information is available, the table below includes how often the symptom is seen in people with... | [
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What is the outlook for Childhood Central Nervous System Embryonal Tumors ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of tumor and where it is in the brain. - Whether the cancer has spread within the brain and spinal cord when the tumor is found. - The age of the ch... | [
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Is Farber lipogranulomatosis inherited ? | This condition is inherited in an autosomal recessive pattern, 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 typically do not show signs and symptoms of the condition. | [
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Who is at risk for Parasites - Cysticercosis? ? | Cysticercosis is an infection caused by the larvae of the tapeworm, Taenia solium. A person with an adult tapeworm, which lives in the person’s gut, sheds eggs in the stool. The infection with the adult tapeworm is called taeniasis. A pig then eats the eggs in the stool. The eggs develop into larvae inside the pig a... | [
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How many people are affected by Waldenstrm macroglobulinemia ? | Waldenstrm macroglobulinemia affects an estimated 3 per million people each year in the United States. Approximately 1,500 new cases of the condition are diagnosed each year in this country, and whites are more commonly affected than African Americans. For unknown reasons, the condition occurs twice as often in men tha... | [
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What is (are) Pityriasis rubra pilaris ? | Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, b... | [
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What are the stages of Intraocular (Uveal) Melanoma ? | Key Points
- After intraocular melanoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - The following sizes are used to describe intraocular melanoma: - Small - Medium - Large - There are three ways that cancer spre... | [
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What is the outlook for Central Cord Syndrome ? | The prognosis for central cord syndrome varies, but most people whose syndrome is caused by trauma have some recovery of neurological function. Evaluation of abnormal signals on MRI images can help predict he likelihood that neurological recovery may occur naturally. Those who receive medical intervention soon after th... | [
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What to do for Henoch-Schnlein Purpura ? | - Henoch-Schnlein purpura (HSP) is a disease that causes small blood vessels in the body to become inflamed and leak. - HSP is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. The factors that cause this immune system response are not known. - The s... | [
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What is the outlook for Testicular Cancer ? | Testicular cancer can usually be cured. Although the number of new cases of testicular cancer has doubled in the last 40 years, the number of deaths caused by testicular cancer has decreased greatly because of better treatments. Testicular cancer can usually be cured, even in late stages of the disease. (See the PDQ su... | [
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What causes Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | What causes nonspherocytic hemolytic anemia due to hexokinase deficiency? Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase. This enzyme plays an important role in the chemical process... | [
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What are the stages of Childhood Ependymoma ? | Key Points
- The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment.
... | [
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What are the treatments for Griscelli syndrome ? | These resources address the diagnosis or management of Griscelli syndrome: - Genetic Testing Registry: Griscelli syndrome type 1 - Genetic Testing Registry: Griscelli syndrome type 2 - Genetic Testing Registry: Griscelli syndrome type 3 These resources from MedlinePlus offer information about the diagnosis and man... | [
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What are the treatments for Leydig cell hypoplasia ? | These resources address the diagnosis or management of Leydig cell hypoplasia: - Genetic Testing Registry: Leydig cell agenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the ... | [
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What are the symptoms of Rocky Mountain Spotted Fever (RMSF) ? | The first symptoms of Rocky Mountain spotted fever (RMSF) typically begin 2-14 days after the bite of an infected tick. A tick bite is usually painless and about half of the people who develop RMSF do not remember being bitten. The disease frequently begins as a sudden onset of fever and headache and most people visit ... | [
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What are the symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type vary but may include: Hyperextensible skin that is fragile and bruises easily Joint hypermobility that leads to frequent dislocations and subluxations (partial disl... | [
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What are the treatments for Gastrointestinal Carcinoid Tumors ? | Key Points
- There are different types of treatment for patients with gastrointestinal carcinoid tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Treatment for carcinoid syndrome may also be neede... | [
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How many people are affected by beta-mannosidosis ? | Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. | [
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What are the genetic changes related to microcephalic osteodysplastic primordial dwarfism type II ? | Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their ... | [
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What is (are) Early infantile epileptic encephalopathy 4 ? | Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizu... | [
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Is 22q13.3 deletion syndrome inherited ? | Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to... | [
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What is (are) Zellweger spectrum disorder ? | Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are n... | [
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What are the symptoms of Galactosialidosis ? | What are the signs and symptoms of Galactosialidosis? The early infantile form of galactosialidosis is associated with hydrops fetalis, inguinal hernia, and hepatosplenomegaly. Additional features include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coars... | [
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What are the symptoms of Van Buchem disease type 2 ? | What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. 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 M... | [
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What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. If the information is available, the table below includes how often the symptom is seen in peopl... | [
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Is Alagille syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. Other cases result from new muta... | [
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What are the genetic changes related to benign chronic pemphigus ? | Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell gr... | [
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What are the genetic changes related to vitelliform macular dystrophy ? | Mutations in the BEST1 and PRPH2 genes cause vitelliform macular dystrophy. BEST1 mutations are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 gene can also cause the adult-onset form of vitelliform macular dystrophy; however, less than a q... | [
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What is (are) gray platelet syndrome ? | Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following sur... | [
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What is (are) Pseudoangiomatous stromal hyperplasia ? | Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for o... | [
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How many people are affected by Heart Attack ? | Very common. Each year, more than 1 million people in the U.S. have a heart attack and about half of them die. About one-half of those who die do so within 1 hour of the start of symptoms and before reaching the hospital. | [
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What are the genetic changes related to leukoencephalopathy with vanishing white matter ? | Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter. The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes provide instructions for making the five parts (subunits) of a protein called eIF2B. The eIF2B protein helps regulate overall protein production (... | [
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What to do for Proteinuria ? | - Proteinuria is a condition in which urine contains a detectable amount of protein. - Proteinuria is a sign of chronic kidney disease (CKD). - Groups at risk for proteinuria include African Americans, American Indians, Hispanics/Latinos, Pacific Islander Americans, older people, overweight people, people with diabet... | [
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What are the treatments for Narcolepsy ? | Narcolepsy has no cure. However, medicines, lifestyle changes, and other therapies can relieve many of its symptoms. Treatment for narcolepsy is based on the type of symptoms you have and how severe they are.
Not all medicines and lifestyle changes work for everyone. It may take weeks to months for you... | [
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What are the symptoms of Senior Loken Syndrome ? | What are the signs and symptoms of Senior Loken Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Senior Loken 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 D... | [
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How to diagnose Huntington disease ? | Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly importa... | [
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what research (or clinical trials) is being done for Adult Primary Liver Cancer ? | New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part ... | [
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What are the symptoms of Bilateral frontoparietal polymicrogyria ? | What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle ton... | [
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Is gyrate atrophy of the choroid and retina inherited ? | This condition is inherited in an autosomal recessive pattern, 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 typically do not show signs and symptoms of the condition. | [
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What are the treatments for Tethered Spinal Cord Syndrome ? | MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. Re... | [
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How to diagnose Proctitis ? | To diagnose proctitis, a health care provider will take a complete medical history and do a physical exam. The health care provider will ask the patient about symptoms, current and past medical conditions, family history, and sexual behavior that increases the risk of STD-induced proctitis. The physical exam will inclu... | [
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How to diagnose Antiphospholipid Antibody Syndrome ? | Your doctor will diagnose antiphospholipid antibody syndrome (APS) based on your medical history and the results from blood tests.
Specialists Involved
A hematologist often is involved in the care of people who have APS. This is a doctor who specializes in diagnosing and treating blood... | [
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What are the treatments for protein C deficiency ? | These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protei... | [
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What is (are) infantile-onset ascending hereditary spastic paralysis ? | Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degenera... | [
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What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ? | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from ... | [
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What are the genetic changes related to Carpenter syndrome ? | Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome. The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. The Rab23 protein transports vesicles from the... | [
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Is familial porencephaly inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | [
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What is (are) Sinusitis ? | Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusit... | [
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What is (are) gastrointestinal stromal tumor ? | A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs a... | [
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What is (are) Nail Diseases ? | Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. Specific types of nai... | [
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Is Platelet storage pool deficiency inherited ? | Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one c... | [
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What are the treatments for Prostate Cancer ? | Key Points
- There are different types of treatment for patients with prostate cancer. - Seven types of standard treatment are used: - Watchful waiting or active surveillance - Surgery - Radiation therapy and radiopharmaceutical therapy - Hormone therapy - Chemotherapy ... | [
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Is Myotonic dystrophy type 1 inherited ? | How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. As myotonic dystrophy is passed from one generation t... | [
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What are the symptoms of Optic atrophy 2 ? | What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. 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... | [
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What are the symptoms of Gastric lymphoma ? | What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. 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 ... | [
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What are the treatments for Lactose Intolerance ? | Many people can manage the symptoms of lactose intolerance by changing their diet. Some people may only need to limit the amount of lactose they eat or drink. Others may need to avoid lactose altogether. Using lactase products can help some people manage their symptoms.
For people with secondary lactas... | [
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Is Microhydranencephaly inherited ? | Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in b... | [
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What is (are) Child Abuse ? | Child abuse is doing something or failing to do something that results in harm to a child or puts a child at risk of harm. Child abuse can be physical, sexual or emotional. Neglect, or not providing for a child's needs, is also a form of abuse. Most abused children suffer greater emotional than physical damage. An ... | [
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Is Neurofibromatosis inherited ? | Is neurofibromatosis inherited? Neurofibromatosis 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 resul... | [
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What are the symptoms of Renal tubular acidosis, distal, autosomal dominant ? | What are the signs and symptoms of Renal tubular acidosis, distal, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people ... | [
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What are the symptoms of Spastic diplegia infantile type ? | What are the signs and symptoms of Spastic diplegia infantile type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic diplegia infantile 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 M... | [
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what research (or clinical trials) is being done for Infantile Refsum Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRDin its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Research is focused on finding better ways to prevent... | [
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Is X-linked severe combined immunodeficiency inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | [
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what research (or clinical trials) is being done for Encephalopathy ? | The NINDS supports and conducts research on brain diseases. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them. | [
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How to diagnose Familial osteochondritis dissecans ? | How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomograph... | [
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What are the symptoms of Dysequilibrium syndrome ? | What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium 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 Medic... | [
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What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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