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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Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 381
  • 23 Dec 2020
Topic Review
Juvenile Paget Disease
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).
  • 408
  • 23 Dec 2020
Topic Review
Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 369
  • 23 Dec 2020
Topic Review
Microvillus Inclusion Disease
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.
  • 312
  • 23 Dec 2020
Topic Review
NIPBL Gene
NIPBL, cohesin loading factor
  • 380
  • 23 Dec 2020
Topic Review
Thrombotic Thrombocytopenic Purpura
Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.
  • 419
  • 23 Dec 2020
Topic Review
IL7R Gene
Interleukin 7 receptor
  • 342
  • 23 Dec 2020
Topic Review
NHLRC1 Gene
NHL repeat containing E3 ubiquitin protein ligase 1
  • 385
  • 23 Dec 2020
Topic Review
Microphthalmia
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.
  • 615
  • 23 Dec 2020
Topic Review
IL36RN Gene
Interleukin 36 receptor antagonist
  • 352
  • 23 Dec 2020
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