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spondyloepimetaphyseal dysplasia, di rocco type

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance.
Mondo Term and Equivalent IDs
MONDO:0060702:  spondyloepimetaphyseal dysplasia, di rocco type
UMLS:CN244923: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found