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
Menkes Syndrome
Menkes syndrome is a disorder that affects copper levels in the body.
  • 429
  • 23 Dec 2020
Topic Review
HLA-DPB1 Gene
Major histocompatibility complex, class II, DP beta 1
  • 346
  • 22 Dec 2020
Topic Review
HLA-B Gene
Major histocompatibility complex, class I, B
  • 342
  • 22 Dec 2020
Topic Review
Melorheostosis
Melorheostosis is a rare bone disease.
  • 406
  • 23 Dec 2020
Topic Review
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.  
  • 679
  • 23 Dec 2020
Topic Review
STAMBP Gene
STAM binding protein: The STAMBP gene provides instructions for making a protein called STAM binding protein.
  • 395
  • 22 Dec 2020
Topic Review
Spondyloenchondrodysplasia with Immune Dysregulation
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence.  
  • 537
  • 23 Dec 2020
Topic Review
Melnick-Needles Syndrome
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems.
  • 482
  • 23 Dec 2020
Topic Review
HFE Gene
Homeostatic iron regulator
  • 332
  • 22 Dec 2020
Topic Review
Spondylocostal Dysostosis
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.  
  • 534
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>