Term Name: osteogenesis imperfecta type 1
Synonyms: OI1, osteogenesis imperfecta type I
Definition: An osteogenesis imperfecta that is characterized by bone fragility and blue 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:0110334]   ( DOID:0110334 )

Relationships
is a type of: autosomal dominant disease osteogenesis imperfecta