Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 

Search Results

Searched for down.

532 results found on Genetics Home Reference.

Showing results 1 to 20.
  1. Down syndrome condition summary
    Found: Down syndrome is a chromosomal condition...
    Related chromosomes:
  2. Trisomy illustration
    Related term: ...an extra chromosome in cells. Down syndrome is an example of a condition...
  3. chromosome 21 summary
    Found: Down syndrome is a chromosomal condition...
  4. congenital sucrase-isomaltase deficiency condition summary
    Found: ...this condition cannot break down the sugars sucrose and maltose....
    Related genes:
  5. TNFRSF11A gene summary
    Official name: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
    Found: ...in which old bone is broken down and new bone is created to replace...
  6. HAL gene summary
    Official name: histidine ammonia-lyase
    Found: ...histidase. Histidase breaks down the amino acid histidine, a building...
  7. PRSS1 gene summary
    Official name: protease, serine, 1 (trypsin 1)
    Found: ...trypsin from being broken down. The most common PRSS1 gene mutation...
  8. Alzheimer disease condition summary
    Found: ...indicates that people with Down syndrome have an increased risk...
    Related genes:
  9. glycogen storage disease type IX condition summary
    Found: ...by the inability to break down a complex sugar called glycogen....
    Related genes:
  10. PYGM gene summary
    Official name: phosphorylase, glycogen, muscle
    Found: ...This enzyme breaks down a complex sugar called glycogen....
  11. AASS gene summary
    Official name: aminoadipate-semialdehyde synthase
    Found: ...in an inability to break down lysine. Lysine that is not broken...
  12. isobutyryl-CoA dehydrogenase deficiency condition summary
    Found: ...which is involved in breaking down valine. ACAD8 gene mutations reduce...
    Related genes:
  13. glycogen storage disease type VI condition summary
    Found: ...caused by an inability to break down a complex sugar called glycogen...
    Related genes:
  14. PLG gene summary
    Official name: plasminogen
    Found: ...protein plasmin, which breaks down another protein called fibrin....
  15. SQSTM1 gene summary
    Official name: sequestosome 1
    Found: ...in which old bone is broken down and new bone is created to replace...
  16. SI gene summary
    Official name: sucrase-isomaltase (alpha-glucosidase)
    Found: ...it is involved in breaking down the sugars sucrose (a sugar found...
  17. TNFRSF11B gene summary
    Official name: tumor necrosis factor receptor superfamily, member 11b
    Found: ...in which old bone is broken down and new bone is created to replace...
  18. PEX7 gene summary
    Official name: peroxisomal biogenesis factor 7
    Found: ...sac-like compartments break down many different substances, including...
  19. PHYH gene summary
    Official name: phytanoyl-CoA 2-hydroxylase
    Found: ...contain enzymes needed to break down many different substances, including...
  20. isovaleric acidemia condition summary
    Found: ...an essential role in breaking down proteins from the diet. Specifically,...
    Related genes:
 
Published: February 11, 2013