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
ABCB4 Gene
ATP binding cassette subfamily B member 4
  • 436
  • 24 Dec 2020
Topic Review
SLC4A1-Associated Distal Renal Tubular Acidosis
SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities.
  • 335
  • 24 Dec 2020
Topic Review
Perrault Syndrome
Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.
  • 458
  • 24 Dec 2020
Topic Review
CRPPA Gene
CDP-L-ribitol pyrophosphorylase A
  • 342
  • 24 Dec 2020
Topic Review
SOST-Related Sclerosing Bone Dysplasia
SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis).
  • 434
  • 24 Dec 2020
Topic Review
ABCB11 Gene
ATP binding cassette subfamily B member 11
  • 441
  • 24 Dec 2020
Topic Review
Dent Disease
Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.
  • 595
  • 24 Dec 2020
Topic Review
SOX2 Anophthalmia Syndrome
SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.
  • 1.9K
  • 24 Dec 2020
Topic Review
STAC3 Disorder
STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 890
  • 24 Dec 2020
Topic Review
CRLF1 Gene
cytokine receptor like factor 1
  • 317
  • 24 Dec 2020
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