hpo_download: Downloads protein annotations from Human Phenotype Ontology

In saezlab/OmnipathR: OmniPath web service client and more

Downloads protein annotations from Human Phenotype Ontology

Description

Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. See more at https://hpo.jax.org/app/.

Usage

hpo_download()

Value

A tibble (data frame) of annotations as it is provided by the database

Examples

hpo_data <- hpo_download()
hpo_data
# # A tibble: 231,738 x 9
#    entrez_gene_id entrez_gene_symb. hpo_term_id hpo_term_name
#             <dbl> <chr>             <chr>       <chr>
#  1           8192 CLPP              HP:0000013  Hypoplasia of the ute.
#  2           8192 CLPP              HP:0004322  Short stature
#  3           8192 CLPP              HP:0000786  Primary amenorrhea
#  4           8192 CLPP              HP:0000007  Autosomal recessive i.
#  5           8192 CLPP              HP:0000815  Hypergonadotropic hyp.
# # . with 231,733 more rows, and 5 more variables:
# #   frequency_raw <chr>, frequency_hpo <chr>, info_gd_source <chr>,
# #   gd_source <chr>, disease_id <chr>

saezlab/OmnipathR documentation built on Nov. 10, 2024, 11:02 p.m.