DISEASES

Disease-gene associations mined from literature

Human genes for X-linked spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda [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.

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