Human genes for osteogenesis imperfecta type 3
Osteogenesis imperfecta type 3 [DOID:0110339]
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Synonyms: osteogenesis imperfecta type 3, DOID:0110339, OI3, osteogenesis imperfecta type III, progressively deforming osteogenesis imperfecta with normal sclera ...