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Disease Ontology Browser
osteogenesis imperfecta type 2 (DOID:0110341)
Alliance: disease page
Synonyms: OI2; osteogenesis imperfecta type II; perinatal lethal osteogenesis imperfecta congenita; Vrolik type of osteogenesis imperfecta
Alt IDs: OMIM:166210, ICD10CM:Q78.0
Definition: An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality 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 (3)
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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11/12/2024
MGI 6.24 		The Jackson Laboratory