spondyloepimetaphyseal dysplasia, missouri type Gene Set

Dataset OMIM Gene-Disease 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
Similar Terms
Downloads & Tools

Genes

1 genes associated with the spondyloepimetaphyseal dysplasia, missouri type phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
MMP13 matrix metallopeptidase 13