osteogenesis imperfecta type 1 (DOID:0110334)
Alliance: disease page
Synonyms: OI1; osteogenesis imperfecta type I
Alt IDs: OMIM:166200, MESH:D010013, NCI:C99003, ORDO:216796, UMLS_CUI:C0023931
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.