RDmap: a map for exploring rare diseases

Abstract Background The complexity of the phenotypic characteristics and molecular bases many rare human genetic diseases makes diagnosis such a challenge for clinicians. A map visualizing, locating navigating based on similarity will help clinicians researchers understand easily explore these diseases. Methods distance matrix included in Orphanet was measured by calculating quantitative among phenotypes pathogenic genes Human Phenotype Ontology (HPO) Gene (GO), each disease mapped into Euclidean space. map, enhanced clustering classes information, developed ECharts. Results called RDmap published at http://rdmap.nbscn.org . Total 3287 are phenotype-based 3789 gene-based map; 1718 overlapping connected between two maps. works similarly to widely used Google Map service supports zooming panning. phenotype base location function performed better than traditional keyword searches an silico evaluation, 20 cases also demonstrated that can assist seeking diagnosis. Conclusion is first user-interactive map-style knowledgebase. It increasingly complicated realm