Term Name: osteogenesis imperfecta type 2
Synonyms: OI2, osteogenesis imperfecta type II, perinatal lethal osteogenesis imperfecta congenita, Vrolik type of osteogenesis imperfecta
Definition: An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality 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:0110341]   ( DOID:0110341 )

Relationships
is a type of: autosomal dominant disease osteogenesis imperfecta