spondyloepimetaphyseal dysplasia, Missouri type

Term ID

DOID:0080030

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. https://pubmed.ncbi.nlm.nih.gov/16167086/

References

• GARD:10618
• MESH:C566574
• MIM:602111
• ORDO:93356

Ontology

Human Disease   ( DOID:0080030 )