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中文Brittle Bone Disorder (OI)
Alias:
Osteogenesis Imperfecta
Brittle Bone Disease
Fragilitas Ossium
Lobstein Disease
Oi
Glass Bone Disease
Lobstein's Disease
Osteopsathyrosis
Osteogenesis Imperfecta, Recessive Perinatal Lethal
Osteogenesis Imperfecta, Dominant Perinatal Lethal
White Blue Sclera - Fragility of Bone - Deafness
Blue Sclera with Fragility of Bone and Deafness
Oi - [osteogenesis Imperfecta]
Brittle Bone Syndrome
Osteitis Fragilitans
Lobstein's Syndrome
Vrolik's Disease
Ossium Fragility
Vrolik Disease
Bony Fragility
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脆骨病，又名成骨不全症，与成骨不全症I型和成骨不全症II型有关，症状包括背痛、肌肉痉挛和坐骨神经痛。与脆骨病有关的重要基因是COL1A2（胶原蛋白Iα2链），其相关通路/超级通路包括胸膜间皮瘤和胶原链三聚体化。在该疾病的背景下提到了药物帕米膦酸二钠和阿仑膦酸钠。附属组织包括骨和骨髓，相关表型为巨脑和步态障碍。
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MALACARDS
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