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 41 - 50 of 59 in total
Gene ID Gene Symbol Description Source
6470 SHMT1 serine hydroxymethyltransferase 1
6472 SHMT2 serine hydroxymethyltransferase 2
6646 SOAT1 sterol O-acyltransferase 1
6783 SULT1E1 sulfotransferase family 1E member 1
8794 TNFRSF10C TNF receptor superfamily member 10c
8803 SUCLA2 succinate-CoA ligase ADP-forming subunit beta
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
9173 IL1RL1 interleukin 1 receptor like 1
10400 PEMT phosphatidylethanolamine N-methyltransferase
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024