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 51 - 59 of 59 in total
Gene ID Gene Symbol Description Source
10942 PRSS21 serine protease 21
23275 POFUT2 protein O-fucosyltransferase 2
26279 PLA2G2D phospholipase A2 group IID
27087 B3GAT1 beta-1,3-glucuronyltransferase 1
27306 HPGDS hematopoietic prostaglandin D synthase
29926 GMPPA GDP-mannose pyrophosphorylase A
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
55556 ENOSF1 enolase superfamily member 1
60495 HPSE2 heparanase 2 (inactive)
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