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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

Referenced OMIM:
OMIM:166220 - OSTEOGENESIS IMPERFECTA, TYPE IV; OI4

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : col1a2, col1a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): osteogenesis imperfecta (is_a)


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