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
NLRP3 Gene
NLR family pyrin domain containing 3
  • 397
  • 23 Dec 2020
Topic Review
JAK3-Deficient Severe Combined Immunodeficiency
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people.
  • 306
  • 23 Dec 2020
Topic Review
NLRP12 Gene
NLR family pyrin domain containing 12
  • 294
  • 23 Dec 2020
Topic Review
Jackson-Weiss Syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis).
  • 448
  • 23 Dec 2020
Topic Review
Jacobsen Syndrome
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
  • 1.4K
  • 23 Dec 2020
Topic Review
Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia).
  • 457
  • 23 Dec 2020
Topic Review
NLRP1 Gene
NLR family pyrin domain containing 1
  • 393
  • 23 Dec 2020
Topic Review
Joubert Syndrome
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 345
  • 23 Dec 2020
Topic Review
INSR Gene
Insulin receptor
  • 377
  • 23 Dec 2020
Topic Review
NKX2-1 Gene
NK2 homeobox 1
  • 293
  • 23 Dec 2020
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