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Disease Ontology Browser
osteogenesis imperfecta type 3 (DOID:0110339)
Alliance: disease page
Synonyms: OI3; osteogenesis imperfecta type III; progressively deforming osteogenesis imperfecta with normal sclera
Alt IDs: OMIM:259420, ICD10CM:Q78.0
Definition: An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in 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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory