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spondyloepiphyseal dysplasia tarda, Kohn type

Disease Summary
Associated Targets ()

Mondo Description Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Mondo Term and Equivalent IDs
MONDO:0010073:  spondyloepiphyseal dysplasia tarda, Kohn type
MESH:C564796: 
Orphanet:163665: 
SCTID:719202006: 
UMLS:C1849053: