Term Name: | osteogenesis imperfecta type 21 |
---|---|
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. |
Ontology: | Human Disease [DOID:0112201] ( DOID:0112201 ) |