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Echinobase
Summary Literature (0)
DOID:0110339 - osteogenesis imperfecta type 3

Disease Ontology Definition:An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Synonyms: OI3, osteogenesis imperfecta type III, progressively deforming osteogenesis imperfecta with normal sclera,

Echinobase Genes : col1a2


OMIM:
MIM:259420 - osteogenesis imperfecta, type iii

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)