Project Overview

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Rare diseases refer to the diseases with extremely low prevalence. Different countries have different definition for the rare diseases, the incidence of rare diseases generally is less than one out of 10,000 and the prevalence is less than 500,000. Currently, more than 5,000 rare diseases have been identified. Due to low levels of detection, diagnosis, and the lack of unified standards, many patients are unable to receive precision diagnosis and efficient treatment, which make the lesion irreversible and result in life-long regret. At present, our platform has collected nearly 3000 kinds of rare diseases. As the most comprehensive information system of rare diseases in the world, the platform provides generate information of relevant rare diseases to patients and their families; In addition, it can assist physicians and clinical experts for more accurate clinical diagnosis of rare diseases; moreover it also provides researchers with overall and the latest research advances for related rare diseases, convenient communication platform between patients and doctors.


Each year, millions of children around world suffer from the consequence of the misdiagnosis and ineffective treatment of various diseases, especially those intractable diseases and rare diseases. To facilitate the pediatric disease diagnosis and treatment, we build the Pediatrics Annotation & Medicine(PAM)system that realizes standardized name and classification of pediatric diseases based on ICD-10, which makes our system HL7 compliance, the knowledge-based system provides professional and comprehensive disease clinical information. Meanwhile, PAM is also a convenient information exchange platform. Pediatricians, clinicians and other medical professionals around world can access the information in PAM system to pinpoint and better understand unfamiliar diseases and obtain suggested therapeutic approaches during daily practice, they can also use our platform to share their experiences in related disease diagnosis and treatment, and update the related disease annotation. In addition, they can post the cases of those intractable diseases or rare diseases and ask for help through our PAM system. Currently, PAM has collected 3,631 pediatric diseases, more comprehensive than any other existing pediatric disease system. It also includes "synonyms" (or alias) information for each disease standard name (currently contains 2,027 synonyms records). We will devote ourselves to continually update PAM system. Users can retrieve the data with three methods: Dispaly whole system, fuzzy query and exact query. To systematically display diseases and the relationship between the diseases with similar pathogenesis, close anatomical site, the same clinical symptoms or subtypes, we list the diseases in tree structure, each user can easily view the disease and its difference from others. Various information is listed with each disease, including clinical phenotypes with importance in alphabet order and the appropriate treatment strategy, which can provide a resource for clinicians to facilitate the timely diagnosis and treatment of their patients...