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spondyloepiphyseal dysplasia, Kimberley type

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Uniprot Description Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.
Mondo Term and Equivalent IDs
MONDO:0012019:  spondyloepiphyseal dysplasia, Kimberley type
MESH:C564252: 
Orphanet:93283: 
SCTID:719203001: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found