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spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Disease Summary
Associated Targets ()

Mondo Description Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Mondo Term and Equivalent IDs
MONDO:0011124:  spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
MESH:C566644: 
Orphanet:168451: 
UMLS:C1866507: