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
IFT43 Gene
Intraflagellar transport 43
  • 292
  • 23 Dec 2020
Topic Review
NCSTN Gene
nicastrin
  • 341
  • 23 Dec 2020
Topic Review
Hypochondroplasia
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
  • 396
  • 23 Dec 2020
Topic Review
IFT122 Gene
Intraflagellar transport 122
  • 314
  • 23 Dec 2020
Topic Review
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 455
  • 23 Dec 2020
Topic Review
NCF2 Gene
neutrophil cytosolic factor 2
  • 359
  • 23 Dec 2020
Topic Review
Metatropic Dysplasia
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities.
  • 391
  • 23 Dec 2020
Topic Review
3-hydroxyacyl-CoA Dehydrogenase Deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).
  • 487
  • 23 Dec 2020
Topic Review
IFIH1 Gene
Interferon induced with helicase C domain 1
  • 367
  • 23 Dec 2020
Topic Review
Hyperprolinemia
Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.
  • 466
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>