Term Name: | spondyloepimetaphyseal dysplasia, Missouri type |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080030] ( DOID:0080030 ) |