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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Disease Ontology
- DOID:14250
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| 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) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06744 | Glucose-6-phosphate isomerase | |
| P07203 | Glutathione peroxidase 1 | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P08842 | Steryl-sulfatase | |
| P09104 | Gamma-enolase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P09960 | Leukotriene A-4 hydrolase | |
| P13591 | Neural cell adhesion molecule 1 | |
| P15289 | Arylsulfatase A | |
| P16152 | Carbonyl reductase [NADPH] 1 |
