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Summary Literature (0)
DOID:0110334 - osteogenesis imperfecta type 1

Disease Ontology 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.

Synonyms: OI1, osteogenesis imperfecta type I

Xenbase Genes : col1a2, col1a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008146 - osteogenesis imperfecta type 1


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), osteogenesis imperfecta (is_a)