Term Name: osteogenesis imperfecta type 3
Synonyms: OI3, osteogenesis imperfecta type III, progressively deforming osteogenesis imperfecta with normal sclera
Definition: 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.
Ontology: Human Disease [DOID:0110339]   (DOID:0110339)

Relationships
is a type of: autosomal dominant disease osteogenesis imperfecta