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Summary Literature (0)
DOID:0110340 - osteogenesis imperfecta type 4

Disease Ontology Definition:An osteogenesis imperfecta that is characterized by bone fragility and normal 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: OI4, osteogenesis imperfecta type IV, osteogenesis imperfecta with normal sclera,

Xenbase Genes : wnt1, col1a2, ppib, serpinf1, sp7, fkbp10, sparc, crtap, tmem38b, col1a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008148 - osteogenesis imperfecta type 4

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)