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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Arginase Deficiency
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 399
  • 24 Dec 2020
Topic Review
TCF4 Gene
Transcription factor 4: The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes.
  • 360
  • 24 Dec 2020
Topic Review
Omenn Syndrome
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency).
  • 572
  • 24 Dec 2020
Topic Review
Chronic Atrial and Intestinal Dysrhythmia
Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system.
  • 1.0K
  • 24 Dec 2020
Topic Review
Apert Syndrome
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
  • 463
  • 24 Dec 2020
Topic Review
ARID1B Gene
AT-rich interaction domain 1B
  • 659
  • 24 Dec 2020
Topic Review
Christianson Syndrome
Christianson syndrome is a disorder that primarily affects the nervous system.
  • 460
  • 24 Dec 2020
Topic Review
RPL5 Gene
ribosomal protein L5
  • 348
  • 24 Dec 2020
Topic Review
TBXT Gene
T-box transcription factor T: The TBXT gene provides instructions for making a protein called brachyury. 
  • 487
  • 24 Dec 2020
Topic Review
ARID1A Gene
AT-rich interaction domain 1A
  • 333
  • 24 Dec 2020
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