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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ANOS1 Gene
anosmin 1
  • 422
  • 24 Dec 2020
Topic Review
RFX5 Gene
regulatory factor X5
  • 335
  • 24 Dec 2020
Topic Review
ANO5 Gene
anoctamin 5
  • 352
  • 24 Dec 2020
Topic Review
Pyle Disease
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. 
  • 403
  • 24 Dec 2020
Topic Review
SURF1 Gene
SURF1, cytochrome c oxidase assembly factor: The SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. 
  • 424
  • 24 Dec 2020
Topic Review
Chordoma
A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.
  • 307
  • 24 Dec 2020
Topic Review
Alport Syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
  • 548
  • 24 Dec 2020
Topic Review
SUOX Gene
Sulfite oxidase: The SUOX gene provides instructions for making an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur when they are no longer needed.
  • 561
  • 24 Dec 2020
Topic Review
Alpha-mannosidosis
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), knock knees, and deterioration of the bones and joints.
  • 462
  • 24 Dec 2020
Topic Review
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
  • 516
  • 24 Dec 2020
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