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

Echinobase Genes : col1a2


OMIM:
MIM:166210 - osteogenesis imperfecta, type ii

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)