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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
External Links
- Disease Ontology
- DOID:0080030
- Mondo Disease Ontology
- MeSH
- OMIM
- WikiPathways (from TogoID)
Related Genes
