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
Gastrointestinal Stromal Tumor
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine.
  • 300
  • 23 Dec 2020
Topic Review
21-hydroxylase deficiency
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 534
  • 23 Dec 2020
Topic Review
TK2-MDS
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
  • 425
  • 23 Dec 2020
Topic Review
Galactosialidosis
Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.
  • 345
  • 23 Dec 2020
Topic Review
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).
  • 488
  • 23 Dec 2020
Topic Review
MT-TH Gene
mitochondrially encoded tRNA histidine
  • 398
  • 23 Dec 2020
Topic Review
Galactosemia
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose.
  • 793
  • 23 Dec 2020
Topic Review
MT-TE Gene
mitochondrially encoded tRNA glutamic acid
  • 469
  • 23 Dec 2020
Topic Review
1q21.1 microduplication
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
  • 610
  • 23 Dec 2020
Topic Review
MT-ND6 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
  • 634
  • 23 Dec 2020
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