osteogenesis imperfecta type 20

Term ID

DOID:0111849

Synonyms

• OI20
• osteogenesis imperfecta type XX

Definition

An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. https://www.ncbi.nlm.nih.gov/pubmed/31564437

References

• OMIM:618644

Ontology

Human Disease   ( DOID:0111849 )