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spondyloepiphyseal dysplasia, MacDermot type

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0008472:  spondyloepiphyseal dysplasia, MacDermot type
MESH:C566659: 
Orphanet:163668: 
UMLS:C1866719: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found