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osteogenesis imperfecta type 3
Summary
- Synonym
-
- OI3
- osteogenesis imperfecta type III
- progressively deforming osteogenesis imperfecta with normal sclera
- Definition
- An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
- Super Class
- autosomal dominant disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0110339
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
