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中文Oculocutaneous Albinism (OCA)
Alias:
Albinism, Oculocutaneous
Oca
Oca - [oculocutaneous Albinism]
Albinism Oculocutaneous
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眼科皮肤白化病，也称为白化病，眼科皮肤白化病，类型IA和白化病，眼科皮肤白化病，类型VI。与眼科皮肤白化病有关的重要基因是OCA2（OCA2色素膜跨膜蛋白），其相关通路/超级通路包括SLITs和ROBOs表达的调节以及Prader-Willi和Angelman综合征。在该疾病的背景下提到了药物吡非尼酮和尼替尼酮。附属组织包括皮肤和眼睛，相关表型为色素沉着和稳态/新陈代谢
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