Term Name: osteogenesis imperfecta type 4
Synonyms: OI4, osteogenesis imperfecta type IV, osteogenesis imperfecta with normal sclera
Definition: 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.
Ontology: Human Disease [DOID:0110340]   ( DOID:0110340 )

Relationships
is a type of: autosomal dominant disease osteogenesis imperfecta