DISEASES

Disease-gene associations mined from literature

Human genes for spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda [DOID:0080362]

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.

Synonyms:  spondyloepiphyseal dysplasia tarda,  DOID:0080362,  spondyloepiphyseal dysplasia tardas,  X-linked spondyloepiphyseal dysplasia tarda,  Xlinked spondyloepiphyseal dysplasia tarda ...