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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 |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5305 | PIP4K2A | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5973 | RENBP | renin binding protein |
Related Glycoprotein
