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spondyloepiphyseal dysplasia congenita

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Uniprot Description Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
Mondo Term and Equivalent IDs
MONDO:0008471:  spondyloepiphyseal dysplasia congenita
GARD:0004987: 
MESH:C535788: 
Orphanet:94068: 
SCTID:278713008: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)