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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: 268,983 × 9
#>    entrez_gene…¹ entre…² hpo_t…³ hpo_t…⁴ frequ…⁵ frequ…⁶ info_…⁷ gd_so…⁸ disea…⁹
#>            <dbl> <chr>   <chr>   <chr>   <chr>   <chr>   <chr>   <chr>   <chr>  
#>  1          8192 CLPP    HP:000… Hypopl… NA      NA      NA      mim2ge… OMIM:6…
#>  2          8192 CLPP    HP:000… Hyperg… NA      NA      NA      mim2ge… OMIM:6…
#>  3          8192 CLPP    HP:000… Primar… NA      NA      NA      mim2ge… OMIM:6…
#>  4          8192 CLPP    HP:000… Autoso… NA      NA      NA      mim2ge… OMIM:6…
#>  5          8192 CLPP    HP:000… Microc… NA      HP:004… NA      mim2ge… OMIM:6…
#>  6          8192 CLPP    HP:000… Seizure NA      HP:004… NA      mim2ge… OMIM:6…
#>  7          8192 CLPP    HP:000… Short … NA      HP:004… NA      mim2ge… OMIM:6…
#>  8          8192 CLPP    HP:000… Congen… NA      NA      NA      mim2ge… OMIM:6…
#>  9          8195 MKKS    HP:000… High p… NA      HP:004… NA      orphad… ORPHA:…
#> 10          8195 MKKS    HP:000… Brachy… NA      HP:004… NA      orphad… ORPHA:…
#> # … with 268,973 more rows, and abbreviated variable names ¹​entrez_gene_id,
#> #   ²​entrez_gene_symbol, ³​hpo_term_id, ⁴​hpo_term_name, ⁵​frequency_raw,
#> #   ⁶​frequency_hpo, ⁷​info_gd_source, ⁸​gd_source, ⁹​disease_id
# # 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>