diseaseHpoMap

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).

datasets

Use phenotype risk scores based on linked clinical and genetic data
to study Mendelian disease and rare genetic variants. See Bastarache et al.
2018 <doi:10.1126/science.aal4043>.

Jake Hughey

phers

Calculate Phenotype Risk Scores

Layla Aref

diseaseHpoMap function

A data.table with the following columns:<ul>
<li><code>disease_id</code>: Numeric vector of OMIM disease identifiers</li>
<li><code>disease_name</code>: Character vector of disease names</li>
<li><code>hpo_term_id</code>: Character vector of HPO identifiers corresponding to each
disease's clinical features</li>
<li><code>hpo_term_name</code>: Character vector of HPO term descriptions</li>
</ul>

diseaseHpoMap: Mapping of Mendelian diseases and their clinical features

Description

Usage

Arguments

Format

See Also