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Additional file 1 of Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

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NIAID Data Ecosystem2026-05-02 收录
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https://figshare.com/articles/dataset/Additional_file_1_of_Objectivizing_issues_in_the_diagnosis_of_complex_rare_diseases_lessons_learned_from_testing_existing_diagnosis_support_systems_on_ciliopathies/25902330
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Additional file 1: CIL-ORPHA list. List of ciliopathy diseases used for the classification. The list is built based on the Orphanet hierarchy and disease names are encoded using the Orphanet nomenclature.

附加文件1:CIL-ORPHA列表。本列表为用于疾病分类的纤毛病(ciliopathy)疾病清单。该列表基于孤儿药数据库(Orphanet)的层级结构构建,疾病名称采用Orphanet命名法进行编码。
创建时间:
2024-05-24
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