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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Chromosome 19
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 19, one copy inherited from each parent, form one of the pairs.
  • 1.3K
  • 24 Dec 2020
Topic Review
ATP8B1 Gene
ATPase phospholipid transporting 8B1
  • 358
  • 24 Dec 2020
Topic Review
ATP7B Gene
ATPase copper transporting beta
  • 640
  • 24 Dec 2020
Topic Review
ATP7A Gene
ATPase copper transporting alpha
  • 428
  • 24 Dec 2020
Topic Review
Chromosome 18
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs.
  • 540
  • 24 Dec 2020
Topic Review
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.
  • 478
  • 24 Dec 2020
Topic Review
Autosomal Recessive Primary Microcephaly
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."
  • 453
  • 24 Dec 2020
Topic Review
ATP6V1B1 Gene
ATPase H+ transporting V1 subunit B1
  • 409
  • 24 Dec 2020
Topic Review
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance.
  • 340
  • 24 Dec 2020
Topic Review
Renal Tubular Dysgenesis
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth.
  • 343
  • 24 Dec 2020
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