Term Name: osteogenesis imperfecta type 18
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 )

Relationships
is a type of: autosomal recessive disease osteogenesis imperfecta