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 )

Relationships
is a type of: autosomal recessive disease osteogenesis imperfecta