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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VPS13B Gene
Vacuolar protein sorting 13 homolog B.
  • 382
  • 24 Dec 2020
Topic Review
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia).
  • 366
  • 24 Dec 2020
Topic Review
Prothrombin Thrombophilia
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels.
  • 376
  • 24 Dec 2020
Topic Review
Leptin Receptor Deficiency
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 315
  • 24 Dec 2020
Topic Review
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine.
  • 407
  • 24 Dec 2020
Topic Review
Leukocyte Adhesion Deficiency Type 1
Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 329
  • 24 Dec 2020
Topic Review
Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
  • 393
  • 24 Dec 2020
Topic Review
Leydig Cell Hypoplasia
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
  • 394
  • 24 Dec 2020
Topic Review
Li-Fraumeni Syndrome
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
  • 416
  • 24 Dec 2020
Topic Review
Liddle Syndrome
Liddle syndrome is an inherited form of high blood pressure (hypertension).
  • 571
  • 24 Dec 2020
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