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These resources address the diagnosis or management of sick sinus syndrome: - Cleveland Clinic: Management of Arrhythmias - Genetic Testing Registry: Sick sinus syndrome 1, autosomal recessive - Genetic Testing Registry: Sick sinus syndrome 2, autosomal dominant - Genetic Testing Registry: Sick sinus syndrome 3, su... |
These resources address the diagnosis or management of Leber hereditary optic neuropathy: - Gene Review: Gene Review: Leber Hereditary Optic Neuropathy - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Leber's optic atrophy - MedlinePlus Encyclopedia: Blindness - MedlinePlus ... |
How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproducti... |
Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility. |
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Pro... |
An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. The abdomen is the area between the chest and the hips. The area of the lower abdominal wall is also called the inguinal or groin region.
Two types of ... |
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption o... |
An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. Many people have an ectopic kidney and do not discover it until they have tests done for other reasons. Sometimes, a health care provider may discover an ectopic kidney after feeling a lump in the abdome... |
There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. If early stage AMD progress... |
Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an o... |
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. |
The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested foodsometimes several hours after a meal. Other symptoms of gastroparesis include
- gastroesophageal reflux (GER), also called acid reflux or acid regurgitationa... |
Is Lafora disease inherited? Lafora disease is 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 are referred to as carriers.... |
Once cancer has been found, the doctor will need to determine the extent, or stage, of the cancer. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps you and the doctor plan ... |
What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inheri... |
What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. 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 Dictionar... |
About 60,000 Americans are diagnosed with Parkinson's disease each year. The disease strikes about 50 percent more men than women. The average age of onset is 60 years, and the risk of developing the disease increases with age. Parkinson's disease is also more common in developed countries, possibly because of increase... |
Small cell lung cancer spreads quickly. In many cases, cancer cells have already spread to other parts of the body when the disease is diagnosed, so chemotherapy is usually the best choice. See more on treatments for small cell lung cancer. |
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. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. These cas... |
The anus is the opening of the rectum through which stool passes out of your body. Problems with the anus are common. They include hemorrhoids, abscesses, fissures (cracks), and cancer. You may be embarrassed to talk about your anal troubles. But it is important to let your doctor know, especially if you have pain o... |
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis typ... |
What are the signs and symptoms of Transient erythroblastopenia of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient erythroblastopenia of childhood. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
These resources address the diagnosis or management of mucolipidosis III gamma: - Gene Review: Gene Review: Mucolipidosis III Gamma - Genetic Testing Registry: Mucolipidosis III Gamma - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus offer informat... |
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