HPO Search Help

The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. https://hpo.jax.org/app/

Using HPO Search

Use the drop-down list to limit search to Term (phenotype), Disease, Gene, or search All.

• Enter a phenotype to find its HPO number

• Enter a disease to find associated gene(s) and phenotypic features

• Enter a gene to find associated disease(s) and phenotypic features

The HPO search tool has a type-ahead function. Below is an example of what is found after typing "spre" when searching All:

Up to 10 items of each type will be displayed. If the desired term is shown, click on it to go directly to its entry. If it is not listed, click on the blue "See all results for" button, or hit Enter/Return to be taken to a search results page.

The page for each phenotypic term includes a hierarchy of related terms. From here, you can select a broader and narrower term if appropriate.

Once a term has been selected, the HP number can be copied from the title line and then pasted into the curation interface.

Return to Curation Help