Disease-gene associations mined from literature

Human genes for osteogenesis imperfecta type 4

Osteogenesis imperfecta type 4 [DOID:0110340]

An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Synonyms:  osteogenesis imperfecta type 4,  DOID:0110340,  OI4,  osteogenesis imperfecta type IV,  osteogenesis imperfecta with normal sclera ...