Human genes for spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita [DOID:14789]
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Synonyms: spondyloepiphyseal dysplasia congenita, DOID:14789, spondyloepiphyseal dysplasia congenitas, Late Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasias