Stickler syndrome

Summary
Definition
A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Super Class
syndrome
Disease Ontology
DOID:0080046
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
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
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12814 Col11a1 collagen, type XI, alpha 1
12815 Col11a2 collagen, type XI, alpha 2

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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: April 7, 2025