关键词: 少见病, 罕见病, 知识库, 模型库, 设计

Abstract: Based on a review of rare disease studies，insights derived from the ideas of developing the clinical resource database for diseases and intelligent information systems，we determined the process of developing nine types of rare disease knowledge databases and two types of rare disease model databases，and described the association of knowledge and model databases，to complete the design of rare disease knowledge and model databases. Our rare disease knowledge databases involve knowledge demonstration and storage，thematic database construction and query，analysis and prediction，updating and management. With the help of the knowledge databases，high-quality prevention，diagnosis and treatment services related to rare diseases will be made accessible to patients and their families，medical workers and researchers，the construction of intelligent knowledge service platforms will be supported effectively，and the intelligent knowledge-based service system for rare diseases will be developed based on a good basis. The application of these rare disease knowledge databases and model databases will contribute to the development of solutions to difficulties in  access to rare disease knowledge，and the addressing of diagnostic difficulties，missed diagnosis and misdiagnosis regarding rare diseases.

Key words: Rare diseases, Orphan disesaes, Knowledge base, Model library, Design