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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Hepatic Lipase Deficiency
Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids).
  • 294
  • 04 Apr 2021
Topic Review
Hepatic Veno-Occlusive Disease with Immunodeficiency
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.
  • 307
  • 23 Dec 2020
Topic Review
Hereditary Angioedema
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.
  • 525
  • 23 Dec 2020
Topic Review
Hereditary Antithrombin Deficiency
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT).
  • 371
  • 23 Dec 2020
Topic Review
Hereditary Cerebral Amyloid Angiopathy
Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood.
  • 416
  • 23 Dec 2020
Topic Review
Hereditary Diffuse Gastric Cancer
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer.
  • 347
  • 23 Dec 2020
Topic Review
Hereditary Folate Malabsorption
Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.
  • 374
  • 23 Dec 2020
Topic Review
Hereditary Fructose Intolerance
Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits.
  • 503
  • 23 Dec 2020
Topic Review
Hereditary Hyperekplexia
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.
  • 479
  • 23 Dec 2020
Topic Review
Hereditary Hypophosphatemic Rickets
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.
  • 369
  • 23 Dec 2020
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