Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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,

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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009804 - osteogenesis imperfecta type 3

Other Model Organisms: AGR, 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)