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
CHD7 Gene
chromodomain helicase DNA binding protein 7
  • 483
  • 24 Dec 2020
Topic Review
COG5-Congenital Disorder of Glycosylation
COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 285
  • 24 Dec 2020
Topic Review
Cutis Laxa
Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.
  • 476
  • 24 Dec 2020
Topic Review
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
  • 847
  • 24 Dec 2020
Topic Review
CFI Gene
complement factor I
  • 426
  • 24 Dec 2020
Topic Review
CLPB Deficiency
CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.
  • 533
  • 24 Dec 2020
Topic Review
CLN8 Disease
CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.
  • 369
  • 05 Apr 2021
Topic Review
WAS Gene
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
  • 474
  • 24 Dec 2020
Topic Review
CFHR5 Gene
complement factor H related 5
  • 362
  • 24 Dec 2020
Topic Review
Cushing Disease
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms.
  • 371
  • 24 Dec 2020
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