osteogenesis imperfecta type 21 (DOID:0112201)
Alliance: disease page
Synonyms: OI21; osteogenesis imperfecta type XXI
Alt IDs: OMIM:619131
Definition: An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.