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Disease Ontology Browser
osteogenesis imperfecta type 21 (DOID:0112201)
Alliance: disease page
Synonyms: 'OI21'; 'osteogenesis imperfecta type XXI'
Alt IDs: OMIM:619131
Definition: An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.


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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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory