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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 |
|---|---|---|---|
| 2571 | GAD1 | glutamate decarboxylase 1 | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 3037 | HAS2 | hyaluronan synthase 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
| 4048 | LTA4H | leukotriene A4 hydrolase | |
| 4360 | MRC1 | mannose receptor C-type 1 |
Related Glycoprotein
