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
PAX8 Gene
paired box 8
  • 388
  • 25 Dec 2020
Topic Review
Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
  • 397
  • 25 Dec 2020
Topic Review
PAX6 Gene
paired box 6
  • 409
  • 25 Dec 2020
Topic Review
Fish-eye Disease
Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy.
  • 365
  • 25 Dec 2020
Topic Review
Fibronectin Glomerulopathy
Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease).
  • 427
  • 25 Dec 2020
Topic Review
Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones.
  • 595
  • 25 Dec 2020
Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 455
  • 25 Dec 2020
Topic Review
Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
  • 416
  • 25 Dec 2020
Topic Review
Sialuria
Sialuria is a rare disorder that has variable effects on development.
  • 452
  • 25 Dec 2020
Topic Review
Sick Sinus Syndrome
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats.
  • 420
  • 25 Dec 2020
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