Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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TAZ Gene
Tafazzin: The TAZ gene provides instructions for producing a protein called tafazzin.
  • 678
  • 24 Dec 2020
Topic Review
Anencephaly
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.
  • 422
  • 24 Dec 2020
Topic Review
Ohdo Syndrome, Maat-Kievit-Brunner Type
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
  • 477
  • 24 Dec 2020
Topic Review
Androgenetic Alopecia
Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.
  • 631
  • 24 Dec 2020
Topic Review
TAT Gene
Tyrosine aminotransferase: The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. 
  • 519
  • 24 Dec 2020
Topic Review
Androgen Insensitivity Syndrome
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female external sex characteristics or signs of both male and female sexual development.
  • 573
  • 24 Dec 2020
Topic Review
RMRP Gene
RNA component of mitochondrial RNA processing endoribonuclease
  • 317
  • 24 Dec 2020
Topic Review
TARDBP Gene
TAR DNA binding protein: The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). 
  • 423
  • 24 Dec 2020
Topic Review
Andersen-Tawil Syndrome
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.
  • 387
  • 24 Dec 2020
Topic Review
TAP2 Gene
Transporter 2, ATP binding cassette subfamily B member: The TAP2 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 468
  • 24 Dec 2020
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