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osteogenesis imperfecta type 21
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0112201
- Mondo Disease Ontology
- OMIM
