Skip to contents

Mapping of Mendelian diseases and their clinical features

Source: R/map.R
diseaseHpoMap.Rd

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).

Usage

diseaseHpoMap

Format

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

Source

https://hpo.jax.org/app/download/annotation

See also

mapDiseaseToPhecode()