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 1 - 10 of 59 in total
Gene ID Gene Symbol Description Source
48 ACO1 aconitase 1
142 PARP1 poly(ADP-ribose) polymerase 1
143 PARP4 poly(ADP-ribose) polymerase family member 4
175 AGA aspartylglucosaminidase
410 ARSA arylsulfatase A
412 STS steroid sulfatase
414 ARSD arylsulfatase D
684 BST2 bone marrow stromal cell antigen 2
847 CAT catalase
873 CBR1 carbonyl reductase 1
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