Spondyloepimetaphyseal dysplasia, Missouri type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description 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. (Human Disease Ontology, DOID_0080030)
External Link http://www.omim.org/entry/602111
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Genes

1 genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
MMP13 matrix metallopeptidase 13