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
DOLK Gene
Dolichol Kinase
  • 287
  • 24 Dec 2020
Topic Review
Retroperitoneal Fibrosis
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum).
  • 287
  • 24 Dec 2020
Topic Review
Pallister-Killian Mosaic Syndrome
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
  • 612
  • 24 Dec 2020
Topic Review
Congenital Insensitivity to Pain
Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain.
  • 1.1K
  • 24 Dec 2020
Topic Review
Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 608
  • 24 Dec 2020
Topic Review
DOCK8 Gene
Dedicator of Cytokinesis 8
  • 336
  • 24 Dec 2020
Topic Review
DNMT3A Gene
DNA Methyltransferase 3 Alpha: The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. 
  • 308
  • 24 Dec 2020
Topic Review
BCOR Gene
BCL6 corepressor
  • 472
  • 24 Dec 2020
Topic Review
Bartter Syndrome
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.
  • 595
  • 24 Dec 2020
Topic Review
Renpenning Syndrome
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features.
  • 442
  • 24 Dec 2020
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