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MIRAGE
spondyloepimetaphyseal dysplasia, Missouri type

Summary
Definition
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
Super Class
autosomal dominant disease spondyloepimetaphyseal dysplasia
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4322 MMP13 matrix metallopeptidase 13
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P45452 Collagenase 3
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 8, 2025