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中文Codas Syndrome (CODASS)
Alias:
Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome
Cerebrooculodentoauriculoskeletal Syndrome
Cerebral, Ocular, Dental, Auricular, and Skeletal Syndrome
Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome
Codass
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Codas 综合症，也被称为脑、眼、齿、耳和骨骼异常综合症，与偶数加综合症和白内障有关。与 Codas 综合症相关的重要基因是 LONP1（Lon 蛋白酶 1，线粒体），其相关通路/超级通路包括过氧化物酶体脂质代谢和线粒体钙离子转运。附属组织包括骨和眼，相关表型包括白内障和全球发育延迟。
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MALACARDS
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