Mapping of Mendelian diseases and their clinical featuresSource:
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