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Turn an HPO gene annotation into a table of diseases

Source: R/hpo.R
hpo_parse_diseases.Rd

Pure.

Usage

hpo_parse_diseases(body)

Arguments

body

A parsed HPO network/annotation response.

Value

A tibble of id, name, mondo, and description, one row per associated disease. NULL when there are none.

Details

Every row is grounded by an OMIM, ORPHA, or DECIPHER id in id, and by a MONDO id in mondo where HPO has one.

References

Gargano et al. (2024). The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Research 52(D1), D1333-D1346. doi:10.1093/nar/gkad1005

Service documentation: https://hpo.jax.org/

Examples

body <- list(diseases = list(
  list(
    id = "OMIM:151623",
    name = "Li-Fraumeni syndrome",
    mondoId = "MONDO:0018875",
    description = NULL
  )
))
hpo_parse_diseases(body)
#> # A tibble: 1 × 4
#>   id          name                 mondo         description
#>   <chr>       <chr>                <chr>         <chr>      
#> 1 OMIM:151623 Li-Fraumeni syndrome MONDO:0018875 NA