Term Name:	spondyloepiphyseal dysplasia congenita
Synonyms:	Late Spondyloepiphyseal Dysplasia
Definition:	A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Ontology:	Human Disease [DOID:14789]   ( DOID:14789 )