spondyloepiphyseal dysplasia Nishimura type (DOID:0112288)
Alliance: disease page
Synonyms: SEDN
Alt IDs: OMIM:618618
Definition: A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1.