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Spondyloenchondrodysplasia with immune dysregulation

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone.
Mondo Term and Equivalent IDs
MONDO:0011939:  Spondyloenchondrodysplasia with immune dysregulation
EFO:0002326: 
GARD:0004978: 
MESH:C564307: 
Orphanet:1855: 
SCTID:703523004: 
UMLS:C1842763: