hpo_download {OmnipathR} | R Documentation |
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/.
hpo_download()
A tibble (data frame) of annotations as it is provided by the database
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>