Phenotype intelligence · HPO release 2025-01-16

Phenotype tool

Turn clinical findings into standard HPO terms, then see which genes and gene panels fit the phenotype. Runs entirely in your browser: nothing you type is sent or stored.

18,387HPO terms
5,125annotated genes
200gene panels
22organ systems
Research and education use. Do not enter names or other identifying details. The ranking is a candidate list for a clinician to review; it is not a diagnosis and not medical advice.

1. Add findings

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The full platform

This page shows the HPO engine. The clinical module adds the complete patient record and is used after sign-in, inside the Tribro-Omics CRM or as the stand-alone TribroPheno application for TribroLIMS sites.

Patient registration

Automatic IDs, research keys, adult to prenatal cases

Clinical history

Complaints, medical, birth and developmental history

Family and pedigree

Three generations, consanguinity, PED export

Organ-system phenotyping

22 systems; present, absent, suspected, unknown, not assessed

HPO annotation

Versioned terms with source, onset, severity, reviewer

Examination and laboratory

Measurements, units, reference ranges, automatic flags

Genomics

Tests, variants with HGVS and ACMG fields, file references

Text extraction

Suggestions with negation and uncertainty; human review required

Prioritisation

Candidate genes and panels; clearly not a diagnosis

Dashboards

Cohort counts, HPO frequency, completeness, follow-up

Exports

Phenopacket, FHIR-mapped, TSV, CSV, PED, PDF report

Governance

Roles, consent and withdrawal, audit trail, de-identification

Method: information-content similarity between the selected terms and HPO gene annotations; genes with fewer than five annotations are left out. Text extraction is rule-based. This product uses the Human Phenotype Ontology (hpo.jax.org), release 2025-01-16.