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HPO term lookup

Human Phenotype Ontology terms — definitions, synonyms, and the diseases & genes annotated to each phenotype.

Two ways to look up an HPO term

  1. 1. Use the GenoLens Chrome extension

    Highlight any HPO ID (e.g. HP:0001250) or phenotype name on any webpage and a tooltip appears with the term definition, synonyms, and linked diseases — pulled live from HPO and Orphanet.

  2. 2. Visit the HPO browser at JAX

    The Human Phenotype Ontology browser is the canonical reference: hpo.jax.org ↗

Searchable HPO term pages — coming soon

We're building dedicated pages for the Top 100 HPO terms by disease-annotation volume, indexed for Google search. Each page will surface the term definition, synonyms, disease associations, frequency labels, and the genes most strongly linked to that phenotype.

In the meantime, the extension covers all of this on any webpage.