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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 |
|---|---|---|---|
| 5649 | RELN | reelin | |
| 6175 | RPLP0 | ribosomal protein lateral stalk subunit P0 | |
| 6429 | SRSF4 | serine and arginine rich splicing factor 4 | |
| 6616 | SNAP25 | synaptosome associated protein 25 | |
| 6647 | SOD1 | superoxide dismutase 1 | |
| 7076 | TIMP1 | TIMP metallopeptidase inhibitor 1 | |
| 7846 | TUBA1A | tubulin alpha 1a | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8871 | SYNJ2 | synaptojanin 2 | |
| 9980 | DOP1B | DOP1 leucine zipper like protein B |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20975 | Synj2 | synaptojanin 2 | |
| 21857 | Timp1 | tissue inhibitor of metalloproteinase 1 | |
| 22142 | Tuba1a | tubulin, alpha 1A | |
| 56320 | Dbn1 | drebrin 1 | |
| 70028 | Dop1b | DOP1 leucine zipper like protein B | |
| 80294 | Pofut2 | protein O-fucosyltransferase 2 | |
| 108156 | Mthfd1 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase | |
| 114873 | Dscaml1 | DS cell adhesion molecule like 1 | |
| 140483 | Hnmt | histamine N-methyltransferase | |
| 224630 | Bnip1 | BCL2/adenovirus E1B interacting protein 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24484 | Igfbp3 | insulin-like growth factor binding protein 3 | |
| 24718 | Reln | reelin | |
| 50654 | Ctss | cathepsin S | |
| 63868 | Hspd1 | heat shock protein family D (Hsp60) member 1 | |
| 81687 | Mmp9 | matrix metallopeptidase 9 | |
| 85238 | Synj1 | synaptojanin 1 | |
| 116510 | Timp1 | TIMP metallopeptidase inhibitor 1 | |
| 171119 | Dscam | DS cell adhesion molecule | |
| 309686 | Pofut2 | protein O-fucosyltransferase 2 |
