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Metadata
ID	DOID:0111848
Name	osteogenesis imperfecta type 18
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. https://www.ncbi.nlm.nih.gov/pubmed/29358272
Xrefs	OMIM:617952
Synonyms	OI18 [EXACT] osteogenesis imperfecta, type XVIII [EXACT]
Parent Relationships	is_a osteogenesis imperfecta is_a autosomal recessive disease