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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Entries
Topic Review
COL6A2 Gene
collagen type VI alpha 2 chain
  • 389
  • 24 Dec 2020
Topic Review
X-linked Sideroblastic Anemia and Ataxia
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.  
  • 545
  • 24 Dec 2020
Topic Review
DOLK-congenital Disorder of Glycosylation
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 547
  • 24 Dec 2020
Topic Review
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males.
  • 419
  • 24 Dec 2020
Topic Review
COL6A1 Gene
collagen type VI alpha 1 chain
  • 355
  • 24 Dec 2020
Topic Review
X-linked Sideroblastic Anemia
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood.
  • 660
  • 24 Dec 2020
Topic Review
SDHD Gene
succinate dehydrogenase complex subunit D
  • 422
  • 24 Dec 2020
Topic Review
X-linked Myotubular Myopathy
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.  
  • 426
  • 24 Dec 2020
Topic Review
COL4A3 Gene
collagen type IV alpha 3 chain
  • 314
  • 24 Dec 2020
Topic Review
X-linked Lymphoproliferative Disease
X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males.
  • 462
  • 24 Dec 2020
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