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
Oral-Facial-Digital Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
  • 340
  • 24 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 414
  • 24 Dec 2020
Topic Review
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
  • 406
  • 24 Dec 2020
Topic Review
Clouston Syndrome
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
  • 377
  • 24 Dec 2020
Topic Review
DES Gene
Desmin
  • 406
  • 24 Dec 2020
Topic Review
ATM Gene
ATM serine/threonine kinase
  • 424
  • 24 Dec 2020
Topic Review
RYR1 Gene
ryanodine receptor 1
  • 278
  • 24 Dec 2020
Topic Review
Optic Atrophy Type 1
Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 388
  • 24 Dec 2020
Topic Review
DEPDC5 Gene
DEP Domain Containing 5
  • 341
  • 24 Dec 2020
Topic Review
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.
  • 406
  • 24 Dec 2020
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