diseaseHpoMap {phers} | R Documentation |
Mapping of Mendelian diseases and their clinical features
Description
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
[Package phers version 1.0.2 Index]