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Echinobase
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, osteogenesis imperfecta type II, perinatal lethal osteogenesis imperfecta congenita, Vrolik type of osteogenesis imperfecta

Echinobase Genes : col1a2


MIM:
MIM:166210 - osteogenesis imperfecta, type ii

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)