DISEASES

Disease-gene associations mined from literature

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

Linkouts:  OMIM #1 #2