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Summary Literature (0)
DOID:0110341 - osteogenesis imperfecta type 2


Disease Ontology Definition:An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality 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: OI2, Vrolik type of osteogenesis imperfecta, osteogenesis imperfecta type II, perinatal lethal osteogenesis imperfecta congenita

Xenbase Genes : col1a2, ppib, p3h1, crtap, col1a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008147 - osteogenesis imperfecta type 2

OMIM:
OMIM:166210 - OSTEOGENESIS IMPERFECTA, TYPE II; OI2

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

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