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dysspondyloenchondromatosis

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Mondo Term and Equivalent IDs
MONDO:0019412:  dysspondyloenchondromatosis
Orphanet:85198: 
SCTID:722434004: 
UMLS:C4302548: