Term Name: | osteogenesis imperfecta type 20 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111849] ( DOID:0111849 ) |