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Osteogenesis Imperfecta

Prevalence: 1/15000

skeletal

Official·OMIM:166200 Official·ORPHA666

Bone fragility disease due to COL1A1/COL1A2 gene mutations.

Associated Genes

COL1A1Collagen Type I Alpha 1 Chain

Chromosome 17Autosomal Dominant

COL1A2Collagen Type I Alpha 2 Chain

Chromosome 7Autosomal Dominant