Human genes for osteogenesis imperfecta type 18
Osteogenesis imperfecta type 18 [DOID:0111848]
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.
Synonyms: osteogenesis imperfecta type 18, DOID:0111848, OI18, osteogenesis imperfecta, type XVIII, osteogenesis imperfecta type XVIII ...