osteogenesis imperfecta type 18 (DOID:0111848)
Alliance: disease page
Synonyms: OI18; osteogenesis imperfecta, type XVIII
Alt IDs: OMIM:617952
Definition: An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.