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
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
1298 COL9A2 collagen type IX alpha 2 chain
4680 CEACAM6 CEA cell adhesion molecule 6
5743 PTGS2 prostaglandin-endoperoxide synthase 2
7007 TECTA tectorin alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024