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osteogenesis imperfecta type 20
Summary
- Synonym
-
- OI20
- osteogenesis imperfecta type XX
- Definition
- An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
- Super Class
- autosomal recessive disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0111849
- Mondo Disease Ontology
- OMIM
Related Genes
