DISEASES

Disease-gene associations mined from literature

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 ...