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Standards Ontologies Notations
Stickler syndrome 2

Summary
Definition
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
Super Class
Stickler syndrome autosomal dominant disease
Disease Ontology
DOID:0080675
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1301 COL11A1 collagen type XI alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12814 Col11a1 collagen, type XI, alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25654 Col11a1 collagen type XI alpha 1 chain
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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: December 9, 2024