Term Name: spondyloepimetaphyseal dysplasia, Missouri type
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 )

Relationships
is a type of: autosomal dominant disease spondyloepimetaphyseal dysplasia