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
Pearson Marrow-Pancreas Syndrome
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy.
  • 361
  • 24 Dec 2020
Topic Review
COL11A2 Gene
collagen type XI alpha 2 chain
  • 313
  • 24 Dec 2020
Topic Review
SDHB Gene
succinate dehydrogenase complex iron sulfur subunit B
  • 316
  • 24 Dec 2020
Topic Review
Russell-Silver Syndrome
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth.
  • 474
  • 24 Dec 2020
Topic Review
Carpenter Syndrome
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.
  • 588
  • 24 Dec 2020
Topic Review
D-bifunctional Protein Deficiency
D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.
  • 313
  • 24 Dec 2020
Topic Review
Carpal Tunnel Syndrome
Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. While carpal tunnel syndrome can occur at any age, it most often affects people between the ages of 40 and 60. In more than half of cases, both hands are affected; however, the severity may vary between hands. When only one hand is affected, it is most often the hand used for writing (the dominant hand).
  • 402
  • 24 Dec 2020
Topic Review
COL11A1 Gene
collagen type XI alpha 1 chain
  • 303
  • 24 Dec 2020
Topic Review
SDHAF2 Gene
succinate dehydrogenase complex assembly factor 2
  • 354
  • 24 Dec 2020
Topic Review
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. 
  • 501
  • 24 Dec 2020
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