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spondylo-megaepiphyseal-metaphyseal dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet.
Mondo Term and Equivalent IDs
MONDO:0013228:  spondylo-megaepiphyseal-metaphyseal dysplasia
MESH:C567639: 
Orphanet:228387: 
UMLS:C2750066: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found