|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset.
|MMP13||matrix metallopeptidase 13||2.88009|