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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Stickler syndrome
Summary
- Definition
- A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080046
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1280 | COL2A1 | collagen type II alpha 1 chain | |
| 1297 | COL9A1 | collagen type IX alpha 1 chain | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1299 | COL9A3 | collagen type IX alpha 3 chain | |
| 1301 | COL11A1 | collagen type XI alpha 1 chain | |
| 1302 | COL11A2 | collagen type XI alpha 2 chain |
