ArticleOrphanet journal of rare diseases2021
RDmap: a map for exploring rare diseases.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- A Network Visualization Query System for Multidrug Compatibility Based on a WeChat Mini Program: Preliminary Usability and Efficiency Evaluation.JMIR formative research · 2026Article
- Article
- Application of knowledge graphs in rare disease research.Frontiers in public health · 2026Review
- Population health management of human phenotype ontology.Frontiers in artificial intelligence · 2025Article
- Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.Orphanet journal of rare diseases · 2024Article
- A Patient Similarity Network (CHDmap) to Predict Outcomes After Congenital Heart Surgery: Development and Validation Study.JMIR medical informatics · 2024Article
- RDguru: An Intelligent Agent for Rare Diseases.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
- Clustering rare diseases within an ontology-enriched knowledge graph.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Systematic exploration of eczema-associated paediatric diseases in a Chinese population of millions: A retrospective observation study.Clinical and translational allergy · 2023Article
- Clustering rare diseases within an ontology-enriched knowledge graph.bioRxiv : the preprint server for biology · 2023Article
- IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG advances · 2023Article
- Visualization of automatically combined disease maps and pathway diagrams for rare diseases.Frontiers in bioinformatics · 2023Article
- Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.Journal of personalized medicine · 2022Review
- Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis.Briefings in bioinformatics · 2022Article
- A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.Interdisciplinary sciences, computational life sciences · 2022Article
- Rare disorders have many faces: in silico characterization of rare disorder spectrum.Orphanet journal of rare diseases · 2022Article
- Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis.Frontiers in pharmacology · 2022Article
- Current Status of Genetic Counselling for Rare Diseases in Spain.Diagnostics (Basel, Switzerland) · 2021Review
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5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases.
methodsA distance matrix of rare diseases included in Orphanet was measured by calculating the quantitative distance among phenotypes and pathogenic genes based on Human Phenotype Ontology (HPO) and Gene Ontology (GO), and each disease was mapped into Euclidean space. A rare disease map, enhanced by clustering classes and disease information, was developed based on ECharts.
resultsA rare disease map called RDmap was published at http://rdmap.nbscn.org . Total 3287 rare diseases are included in the phenotype-based map, and 3789 rare genetic diseases are included in the gene-based map; 1718 overlapping diseases are connected between two maps. RDmap works similarly to the widely used Google Map service and supports zooming and panning. The phenotype similarity base disease location function performed better than traditional keyword searches in an in silico evaluation, and 20 published cases of rare diseases also demonstrated that RDmap can assist clinicians in seeking the rare disease diagnosis.
conclusionRDmap is the first user-interactive map-style rare disease knowledgebase. It will help clinicians and researchers explore the increasingly complicated realm of rare genetic diseases.
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