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Summary Literature (0)
DOID:0110339 - osteogenesis imperfecta type 3


Disease Ontology 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.

Synonyms: OI3, osteogenesis imperfecta type III, progressively deforming osteogenesis imperfecta with normal sclera

In OMIM:
OMIM:259420 - OSTEOGENESIS IMPERFECTA, TYPE III; OI3

In Mondo Disease Ontology:
MONDO:0009804 - osteogenesis imperfecta type 3

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : bmp1, wnt1, creb3l1, col1a2, ppib, serpinf1, p3h1, serpinh1, fkbp10, crtap, col1a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): osteogenesis imperfecta (is_a)