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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Entries
Topic Review
SAMD9L Gene
sterile alpha motif domain containing 9 like
  • 343
  • 24 Dec 2020
Topic Review
ATP2C1 Gene
ATPase secretory pathway Ca2+ transporting 1
  • 395
  • 24 Dec 2020
Topic Review
Coffin-Lowry Syndrome
Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
  • 343
  • 24 Dec 2020
Topic Review
Asphyxiating Thoracic Dystrophy
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.
  • 372
  • 24 Dec 2020
Topic Review
DHH Gene
Desert Hedgehog
  • 948
  • 24 Dec 2020
Topic Review
SALL4 Gene
spalt like transcription factor 4
  • 278
  • 24 Dec 2020
Topic Review
Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 370
  • 24 Dec 2020
Topic Review
Aspartylglucosaminuria
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
  • 310
  • 24 Dec 2020
Topic Review
ATP1A3 Gene
ATPase Na+/K+ transporting subunit alpha 3
  • 352
  • 24 Dec 2020
Topic Review
SALL1 Gene
spalt like transcription factor 1
  • 353
  • 24 Dec 2020
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