| Metadata | |
|---|---|
| ID | DOID:0080030 |
| Name | spondyloepimetaphyseal dysplasia, Missouri type |
| 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. https://pubmed.ncbi.nlm.nih.gov/16167086/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some vertebral column has material basis in some autosomal dominant inheritance has phenotype some Genu varum has phenotype some Pear-shaped vertebrae |