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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Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 427
  • 23 Dec 2020
Topic Review
LEMD3 Gene
LEM domain containing 3
  • 473
  • 23 Dec 2020
Topic Review
Klippel-Feil Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae).
  • 375
  • 23 Dec 2020
Topic Review
WAGR Syndrome
WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).
  • 549
  • 23 Dec 2020
Topic Review
CYP17A1 Gene
Cytochrome P450 Family 17 Subfamily A Member 1
  • 410
  • 23 Dec 2020
Topic Review
Acrocallosal Syndrome
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
  • 437
  • 23 Dec 2020
Topic Review
LDLR Gene
Low density lipoprotein receptor
  • 478
  • 23 Dec 2020
Topic Review
Multiple System Atrophy
Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men.
  • 386
  • 23 Dec 2020
Topic Review
Achromatopsia
Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.
  • 378
  • 23 Dec 2020
Topic Review
CYP11B2 Gene
Cytochrome P450 Family 11 Subfamily B Member 2: The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). 
  • 416
  • 23 Dec 2020
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