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spondyloepiphyseal dysplasia, Reardon type

Disease Summary
Associated Targets ()

Mondo Description Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Mondo Term and Equivalent IDs
MONDO:0010902:  spondyloepiphyseal dysplasia, Reardon type