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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Barth Syndrome
Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.
  • 538
  • 24 Dec 2020
Topic Review
Chromosome 21
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs.
  • 612
  • 24 Dec 2020
Topic Review
BAP1 Gene
BRCA1 associated protein 1
  • 396
  • 24 Dec 2020
Topic Review
Bart-Pumphrey Syndrome
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.
  • 428
  • 24 Dec 2020
Topic Review
DNMT1 Gene
DNA Methyltransferase 1: The DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1. 
  • 310
  • 24 Dec 2020
Topic Review
AVPR2 Gene
arginine vasopressin receptor 2
  • 328
  • 24 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type II
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 548
  • 24 Dec 2020
Topic Review
Chromosome 20
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 20, one copy inherited from each parent, form one of the pairs.
  • 774
  • 24 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type I
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.
  • 480
  • 24 Dec 2020
Topic Review
ATRX Gene
ATRX, chromatin remodeler
  • 369
  • 24 Dec 2020
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