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multiple epiphyseal dysplasia, with miniepiphyses

Disease Summary
Associated Targets ()

Mondo Description Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
Mondo Term and Equivalent IDs
MONDO:0012254:  multiple epiphyseal dysplasia, with miniepiphyses
MESH:C563735: 
Orphanet:166032: 
UMLS:C1836307: