Spondylo-meta-epiphyseal dysplasia
Spondylo-meta-epiphyseal dysplasia (SMED) is a rare autosomal-recessive disease that causes skeletal disorders. SMED is thought to be caused by a mutation in the Discoidin Domain Receptor 2 (DDR2) gene. See also

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

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Autosomal recessive disorders
Genetic disorders by system