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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	GARD:10618 MESH:C566574 MIM:602111 ORDO:93356
Subsets	DO_rare_slim
Parent Relationships	is_a spondyloepimetaphyseal dysplasia is_a autosomal dominant disease