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.

Expand All
Entries
Topic Review
LIPA Gene
Lipase A, lysosomal acid type
  • 377
  • 23 Dec 2020
Topic Review
CYP1B1 Gene
Cytochrome P450 Family 1 Subfamily B Member 1
  • 354
  • 23 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 365
  • 23 Dec 2020
Topic Review
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
  • 384
  • 23 Dec 2020
Topic Review
LIMK1 Gene
LIM domain kinase 1
  • 345
  • 23 Dec 2020
Topic Review
Keratoconus
Keratoconus is an eye condition that affects the shape of the cornea, which is the clear outer covering of the eye.
  • 343
  • 23 Dec 2020
Topic Review
Myhre Syndrome
Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.
  • 413
  • 23 Dec 2020
Topic Review
Walker-Warburg Syndrome
Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.  
  • 560
  • 23 Dec 2020
Topic Review
LHCGR Gene
Luteinizing hormone/choriogonadotropin receptor
  • 362
  • 23 Dec 2020
Topic Review
CYP19A1 Gene
Cytochrome P450 Family 19 Subfamily A Member 1
  • 372
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>