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This table provides a mapping between Mendelian diseases and their clinical features, represented as Human Phenotype Ontology (HPO) terms. The mapping is based on annotations from Online Mendelian Inheritance in Man (OMIM).




A data.table with the following columns:

  • disease_id: Numeric vector of OMIM disease identifiers

  • disease_name: Character vector of disease names

  • hpo_term_id: Character vector of HPO identifiers corresponding to each disease's clinical features

  • hpo_term_name: Character vector of HPO term descriptions