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
Maffucci Syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 541
  • 23 Dec 2020
Topic Review
GNAS Gene
GNAS complex locus
  • 398
  • 23 Dec 2020
Topic Review
15q24 Microdeletion
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
  • 679
  • 26 Aug 2021
Topic Review
GNAQ Gene
G protein subunit alpha q
  • 332
  • 23 Dec 2020
Topic Review
Mabry Syndrome
Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.
  • 2.0K
  • 23 Dec 2020
Topic Review
15q13.3 Microdeletion
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.  
  • 1.1K
  • 26 Aug 2021
Topic Review
GNA11 Gene
G protein subunit alpha 11
  • 315
  • 23 Dec 2020
Topic Review
MID1 Gene
midline 1
  • 338
  • 22 Dec 2020
Topic Review
GLRA1 Gene
Glycine receptor alpha 1
  • 383
  • 23 Dec 2020
Topic Review
MYH9-Related Disorder
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).
  • 540
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>