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This table provides a mapping between Human Phenotype Ontology (HPO) terms and phecodes, and is useful for using phecodes to represent the clinical features of Mendelian diseases (version 1.2).




A data.table with the following columns:

  • hpo_term_id: Character vector of HPO term identifiers

  • hpo_term_name: Character vector of HPO term descriptions

  • phecode: Character vector of phecodes

  • phecode_name: Character vector of phecode descriptions