Term Name:	spondyloepiphyseal dysplasia Nishimura type
Synonyms:	SEDN
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.
Ontology:	Human Disease [DOID:0112288]   ( DOID:0112288 )