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
Palmoplantar Keratoderma with Deafness
Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss.
  • 337
  • 24 Dec 2020
Topic Review
X Chromosome
The X chromosome is one of the two sex chromosomes in humans (the other is the Y chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell.
  • 1.1K
  • 24 Dec 2020
Topic Review
CACNA1A Gene
calcium voltage-gated channel subunit alpha1 A
  • 381
  • 24 Dec 2020
Topic Review
Cowden Syndrome
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
  • 455
  • 24 Dec 2020
Topic Review
Branchiootorenal/Branchiootic Syndrome
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
  • 462
  • 24 Dec 2020
Topic Review
NOP56 Gene
NOP56 ribonucleoprotein
  • 320
  • 24 Dec 2020
Topic Review
DYRK1A Gene
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
  • 377
  • 24 Dec 2020
Topic Review
NOG Gene
noggin
  • 521
  • 24 Dec 2020
Topic Review
Branchio-Oculo-Facial Syndrome
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.
  • 572
  • 24 Dec 2020
Topic Review
CA12 Gene
carbonic anhydrase 12
  • 609
  • 24 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>