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
McCune-Albright Syndrome
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
  • 638
  • 23 Dec 2020
Topic Review
Spinal and Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).
  • 561
  • 23 Dec 2020
Topic Review
GPR101 Gene
G protein-coupled receptor 101
  • 444
  • 22 Dec 2020
Topic Review
Spina Bifida
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development.
  • 412
  • 23 Dec 2020
Topic Review
Mayer-Rokitansky-Küster-Hauser Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system.
  • 591
  • 23 Dec 2020
Topic Review
GPI Gene
Glucose-6-phosphate isomerase
  • 305
  • 22 Dec 2020
Topic Review
MN1 Gene
MN1 proto-oncogene, transcriptional regulator
  • 444
  • 22 Dec 2020
Topic Review
Spastic Paraplegia Type 7
Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 532
  • 23 Dec 2020
Topic Review
GPC3 Gene
Glypican 3
  • 307
  • 22 Dec 2020
Topic Review
Maturity-Onset Diabetes of the Young
Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high blood sugar levels. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood sugar arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.
  • 378
  • 23 Dec 2020
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