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spondyloepimetaphyseal dysplasia with joint laxity

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
Mondo Term and Equivalent IDs
MONDO:0019675:  spondyloepimetaphyseal dysplasia with joint laxity
DC:0000688: 
DOID:0112197: 
GARD:0004982: 
MESH:C562968: 
OMIMPS:271640: 
Orphanet:93359: 
SCTID:254100000: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found