You are using an outdated browser. Please upgrade your browser to improve your experience.

spondyloepiphyseal dysplasia, Kimberley type

Disease Summary
Associated Targets (1)
Tbio

1


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: