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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Poland Syndrome
Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
  • 434
  • 24 Dec 2020
Topic Review
NRAS Gene
NRAS proto-oncogene, GTPase
  • 525
  • 24 Dec 2020
Topic Review
SLC25A24 Gene
solute carrier family 25 member 24
  • 392
  • 24 Dec 2020
Topic Review
Schindler Disease
Schindler disease is an inherited disorder that primarily causes neurological problems.
  • 732
  • 24 Dec 2020
Topic Review
Pol III-Related Leukodystrophy
Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.
  • 399
  • 24 Dec 2020
Topic Review
NR5A1 Gene
nuclear receptor subfamily 5 group A member 1
  • 495
  • 24 Dec 2020
Topic Review
Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system.
  • 372
  • 24 Dec 2020
Topic Review
SLC25A15 Gene
solute carrier family 25 member 15
  • 389
  • 24 Dec 2020
Topic Review
NR3C2 Gene
nuclear receptor subfamily 3 group C member 2
  • 517
  • 24 Dec 2020
Topic Review
ENPP1 Gene
Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). 
  • 368
  • 24 Dec 2020
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