osteogenesis imperfecta type 18

Term ID

DOID:0111848

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. https://www.ncbi.nlm.nih.gov/pubmed/29358272

References

• MIM:617952

Ontology

Human Disease   ( DOID:0111848 )