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Results: 6

1.

Insulin

A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1). [from MeSH]

MedGen UID:
5827
Concept ID:
C0021641
Pharmacologic Substance
2.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI]

MedGen UID:
5539
Concept ID:
C0019409
3.

Ethanol

If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. Moderate drinking is one drink a day for women or anyone over 65, and two drinks a day for men under 65. Some people should not drink at all, including alcoholics, children, pregnant women, people on certain medicines and people with some medical conditions. If you have questions about whether it is safe for you to drink, speak with your healthcare provider. Anything more than moderate drinking can be risky. Binge drinking - drinking five or more drinks at one time - can damage your health and increase your risk for accidents, injuries and assault. Years of heavy drinking can lead to liver disease, heart disease, cancer and pancreatitis. It can also cause problems at home, at work and with friends. . NIH: National Institute on Alcohol Abuse and Alcoholism.  [from MedlinePlus]

MedGen UID:
186
Concept ID:
C0001962
Pharmacologic Substance
4.

Asymmetric crying face association

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth (a cleft palate), and distinctive facial features. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system, and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones. Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities. Later in life, they are at an increased risk of developing mental illnesses such as schizophrenia, depression, anxiety, and bipolar disorder. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention deficit hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorders that affect communication and social interaction. Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.
[from GHR]

MedGen UID:
140911
Concept ID:
C0431406
Congenital Abnormality
5.

Mass of body structure

In medicine, a lump in the body. It may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. A mass may be benign (not cancer) or malignant (cancer). [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
6.

Localized

Restricted to the site of origin, without evidence of spread. [from NCI]

MedGen UID:
98236
Concept ID:
C0392752

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