osteogenesis imperfecta type 3

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009804 - osteogenesis imperfecta type 3

MONDO:0009804 - osteogenesis imperfecta type 3

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)