Term Name: | osteogenesis imperfecta type 12 |
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Synonyms: | OI12, osteogenesis imperfecta type XII |
Definition: | An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0110348] ( DOID:0110348 ) |