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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Topic Review
CLCF1 Gene
cardiotrophin like cytokine factor 1
  • 323
  • 24 Dec 2020
Topic Review
Canavan Disease
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.
  • 425
  • 24 Dec 2020
Topic Review
CIITA Gene
class II major histocompatibility complex transactivator
  • 303
  • 24 Dec 2020
Topic Review
Ring Chromosome 20 Syndrome
Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain.
  • 494
  • 24 Dec 2020
Topic Review
Woodhouse-Sakati Syndrome
Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.  
  • 751
  • 24 Dec 2020
Topic Review
Camurati-Engelmann Disease
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
  • 460
  • 24 Dec 2020
Topic Review
Cystinosis
Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.
  • 417
  • 24 Dec 2020
Topic Review
Campomelic Dysplasia
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.
  • 432
  • 24 Dec 2020
Topic Review
CHRNB2 Gene
cholinergic receptor nicotinic beta 2 subunit
  • 326
  • 24 Dec 2020
Topic Review
Cyclic Vomiting Syndrome
Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age.
  • 909
  • 24 Dec 2020
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