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The workflow of RDAD. HPO, Human Phenotype Ontology. OMIM, Online Mendelian Inheritance in Man. PGAS, Phenotype-Gene Association based rare disease similarity model; PICS, Phenotypic TF-IDF-Hierarchy information content based rare disease similarity model; CPML, Curated feature Phenotype spatial vector based rare disease Machine Learning prediction model; APML, Curated and text mined feature phenotype spatial vector based rare disease Machine Learning prediction model.
