Rare Skin Disease Database

We collected data from public databases containing curated, inferred, literature-based information to create a database for connecting biomedical information. With curated disease genes, phenotypes, and phenotype genes as the direct molecular signatures of rare skin diseases, this work tries to link potential drugs to candidate rare skin disease targets with matched genes through disease-gene or disease-phenotype-gene relationships.<br><br>RSDB contains 891 rare skin diseases, 28,077 genes, 9,732 phenotypes and 16,671 compounds with 16,411 disease-gene relationships, 15,793 disease-phenotype relationships, 12,184 disease-reference relationships, 638,151 gene-phenotype relationships, 17,636 gene-reference relationships and 61,282 references.<br>Users can visit the RSDB homepage (https://rsdb.cmdm.tw) to explore the data for rare skin disease information.<br>

本研究从经人工整理、推导验证且基于文献的公开数据库中采集数据，构建用于关联生物医学信息的专用数据库。以经过人工整理的疾病基因、表型以及表型基因作为罕见皮肤病的直接分子特征，本研究尝试通过疾病-基因或疾病-表型-基因的关联关系，将潜在药物与携带匹配基因的罕见皮肤病候选靶点进行关联。

RSDB共收录891种罕见皮肤病、28077个基因、9732种表型以及16671种化合物，涵盖16411条疾病-基因关联记录、15793条疾病-表型关联记录、12184条疾病-参考文献关联记录、638151条基因-表型关联记录、17636条基因-参考文献关联记录以及61282条参考文献条目。
用户可访问RSDB主页（https://rsdb.cmdm.tw），探索罕见皮肤病相关的信息数据。