Down syndrome

Summary
Synonym
  • Complete trisomy 21 syndrome
  • Down's syndrome
  • Down's syndrome - trisomy 21
  • Downs syndrome
  • G Trisomy
  • trisomy 21 syndrome
Definition
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
Super Class
chromosomal duplication syndrome
External Links
Related Genes
Displaying entries 31 - 40 of 59 in total
Gene ID Gene Symbol Description Source
4684 NCAM1 neural cell adhesion molecule 1
4907 NT5E 5'-nucleotidase ecto
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5211 PFKL phosphofructokinase, liver type
5226 PGD phosphogluconate dehydrogenase
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5305 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
5621 PRNP prion protein (Kanno blood group)
5743 PTGS2 prostaglandin-endoperoxide synthase 2
5973 RENBP renin binding protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
80294 Pofut2 protein O-fucosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
309686 Pofut2 protein O-fucosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31098 O-fut2 O-fucosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
777668 pofut2 protein O-fucosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
779585 pofut2 protein O-fucosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
259529 pad-2 GDP-fucose protein O-fucosyltransferase 2

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Last updated: August 19, 2024