Term Name: | osteogenesis imperfecta type 18 |
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Synonyms: | OI18, osteogenesis imperfecta, type XVIII |
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. |
Ontology: | Human Disease [DOID:0111848] ( DOID:0111848 ) |