Term Name: spondyloepiphyseal dysplasia
Synonyms: SED
Definition: An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
Ontology: Human Disease [DOID:0112280]   ( DOID:0112280 )

Relationships
is a type of: osteochondrodysplasia
has subtype: spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia Kimberley type spondyloepiphyseal dysplasia Kondo-Fu type spondyloepiphyseal dysplasia Maroteaux type spondyloepiphyseal dysplasia Nishimura type spondyloepiphyseal dysplasia Stanescu type spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia-brachydactyly and distinctive speech