Term Name: | osteogenesis imperfecta type 1 |
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Synonyms: | OI1, osteogenesis imperfecta type I |
Definition: | An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
Ontology: | Human Disease [DOID:0110334] ( DOID:0110334 ) |