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Disease Ontology Browser
osteogenesis imperfecta type 1 (DOID:0110334)
Alliance: disease page
Synonyms: OI1; osteogenesis imperfecta type I
Alt IDs: OMIM:166200, MESH:D010013, NCI:C99003, ORDO:216796, UMLS_CUI:C0023931
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.

Disease References using Mouse Models (7)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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09/30/2025
MGI 6.24 		The Jackson Laboratory