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spondyloepiphyseal dysplasia tarda

Disease Summary
Associated Targets (16)
Tbio

8

Tclin

5

Tchem

2

Tdark

1


Explore Associated Targets
Mondo Description Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Uniprot Description X-linked recessive disorder of endochondral bone formation.
Disease Ontology Description A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
Mondo Term and Equivalent IDs
MONDO:0019667:  spondyloepiphyseal dysplasia tarda
Orphanet:93284: 
SCTID:51952004: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)