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spondyloepimetaphyseal dysplasia, sponastrime type

Disease Summary
Associated Targets ()

Mondo Description A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
Mondo Term and Equivalent IDs
MONDO:0010068:  spondyloepimetaphyseal dysplasia, sponastrime type
GARD:0004970: 
MESH:C535786: 
NCIT:C129031: 
Orphanet:93357: 
SCTID:389161008: