OntologiesdoidclassesDOID:0080362   
X-linked spondyloepiphyseal dysplasia tarda
http://purl.obolibrary.org/obo/DOID_0080362

A spondyloepiphyseal 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.