spondyloepiphyseal dysplasia congenita (DOID:14789)
Alliance: disease page
Synonyms: Late Spondyloepiphyseal Dysplasia
Alt IDs: OMIM:183900, DOID:0080025, MESH:C535788
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.