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
KCNJ5 Gene
Potassium voltage-gated channel subfamily J member 5
  • 286
  • 23 Dec 2020
Topic Review
Mucolipidosis III Alpha/Beta
Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.
  • 284
  • 23 Dec 2020
Topic Review
Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body.
  • 434
  • 23 Dec 2020
Topic Review
KCNJ2 Gene
Potassium voltage-gated channel subfamily J member 2
  • 414
  • 23 Dec 2020
Topic Review
Trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
  • 485
  • 23 Dec 2020
Topic Review
Mucolipidosis II Alpha/Beta
Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.
  • 314
  • 23 Dec 2020
Topic Review
KCNJ11 Gene
Potassium voltage-gated channel subfamily J member 11
  • 333
  • 23 Dec 2020
Topic Review
Triple A Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
  • 462
  • 23 Dec 2020
Topic Review
KCNJ1 Gene
Potassium voltage-gated channel subfamily J member 1
  • 303
  • 23 Dec 2020
Topic Review
Moyamoya Disease
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them.
  • 319
  • 23 Dec 2020
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