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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IRAK-4 Deficiency
IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.)
  • 378
  • 23 Dec 2020
Topic Review
Timothy Syndrome
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body, including the fingers and toes, teeth, nervous system, and immune system.
  • 480
  • 23 Dec 2020
Topic Review
Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 456
  • 23 Dec 2020
Topic Review
Ichthyosis with Confetti
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people.
  • 452
  • 23 Dec 2020
Topic Review
ITGB3 Gene
Integrin subunit beta 3
  • 398
  • 23 Dec 2020
Topic Review
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.
  • 441
  • 23 Dec 2020
Topic Review
ITGB2 Gene
Integrin subunit beta 2
  • 331
  • 23 Dec 2020
Topic Review
Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2.
  • 371
  • 23 Dec 2020
Topic Review
Idiopathic Inflammatory Myopathy
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles).
  • 352
  • 23 Dec 2020
Topic Review
ITGA6 Gene
Integrin subunit alpha 6
  • 357
  • 23 Dec 2020
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