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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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MIRAGE
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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00441 | Superoxide dismutase [Cu-Zn] | |
| P11586 | C-1-tetrahydrofolate synthase, cytoplasmic | |
| P14780 | Matrix metalloproteinase-9 | |
| P60880 | Synaptosomal-associated protein 25 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49657 | Serine/threonine-protein kinase minibrain | |
| Q0E9H9 | Cell adhesion molecule Dscam1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WR51 | GDP-fucose protein O-fucosyltransferase 2 |
