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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 |
|---|---|---|---|
| 6470 | SHMT1 | serine hydroxymethyltransferase 1 | |
| 6472 | SHMT2 | serine hydroxymethyltransferase 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8871 | SYNJ2 | synaptojanin 2 | |
| 9173 | IL1RL1 | interleukin 1 receptor like 1 | |
| 10400 | PEMT | phosphatidylethanolamine N-methyltransferase |
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 |
