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
Deoxyguanosine Kinase Deficiency
Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain.
  • 469
  • 24 Dec 2020
Topic Review
Peters Plus Syndrome
Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.
  • 449
  • 24 Dec 2020
Topic Review
EGLN1 Gene
Egl-9 family hypoxia inducible factor 1
  • 384
  • 24 Dec 2020
Topic Review
Denys-Drash Syndrome
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
  • 431
  • 24 Dec 2020
Topic Review
Peters Anomaly
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment.
  • 387
  • 24 Dec 2020
Topic Review
ABCG5 Gene
ATP binding cassette subfamily G member 5
  • 407
  • 24 Dec 2020
Topic Review
ABCG2 Gene
ATP binding cassette subfamily G member 2 (Junior blood group)
  • 500
  • 24 Dec 2020
Topic Review
SHOX Gene
short stature homeobox
  • 351
  • 24 Dec 2020
Topic Review
Persistent Müllerian Duct Syndrome
Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.
  • 550
  • 24 Dec 2020
Topic Review
Dentinogenesis Imperfecta
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.teeth.
  • 543
  • 24 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>