RAMEDIS

RAMEDIS is a manually curated resource of human variations and corresponding phenotypes for rare metabolic diseases. The system is based on separate case reports that comprehensively describe various aspects of anonymous case study.RAMEDIS是一款面向罕见代谢疾病的人类变异与对应表型 (phenotype) 的人工整理资源。该系统基于独立的病例报告，这些报告全面阐述了匿名病例研究的各个维度。