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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HIVEP2-Related Intellectual Disability
HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features).
  • 386
  • 23 Dec 2020
Topic Review
HSD10 Disease
HSD10 disease is a disorder that affects the nervous system, vision, and heart. It is typically more severe in males than in females.
  • 388
  • 23 Dec 2020
Topic Review
Hailey-Hailey Disease
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.
  • 408
  • 23 Dec 2020
Topic Review
Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones.
  • 473
  • 23 Dec 2020
Topic Review
Hand-Foot-Genital Syndrome
Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system.
  • 764
  • 23 Dec 2020
Topic Review
Harlequin Ichthyosis
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
  • 507
  • 23 Dec 2020
Topic Review
Guillain-Barré Syndrome
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves.
  • 452
  • 23 Dec 2020
Topic Review
VKORC1 Gene
Vitamin K epoxide reductase complex subunit 1.
  • 342
  • 23 Dec 2020
Topic Review
Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles.
  • 330
  • 23 Dec 2020
Topic Review
Griscelli Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy.
  • 640
  • 23 Dec 2020
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