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中文Retinitis Pigmentosa 12 (RP12)
Alias:
Rp12
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium
Rp with or Without Pprpe
Retinitis Pigmentosa, with/without Pprpe, Type 12
Retinitis Pigmentosa-12
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视网膜色素变性12型，也称为rp12，与视网膜炎和Leber先天性黑蒙8型有关。与视网膜色素变性12型相关的重要基因是CRB1（Crumbs细胞极性复合体成分1），其相关通路/超级通路包括补体级联和Notch信号通路（sino）。相关组织包括视网膜和眼睛，相关表型包括眼震和视力下降。
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