osteogenesis imperfecta type 21

Term ID

DOID:0112201

Synonyms

• OI21
• osteogenesis imperfecta type XXI

Definition

An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. https://pubmed.ncbi.nlm.nih.gov/33053334/

References

• OMIM:619131

Ontology

Human Disease   ( DOID:0112201 )