Patient registration
Automatic IDs, research keys, adult to prenatal cases
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.
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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.
Automatic IDs, research keys, adult to prenatal cases
Complaints, medical, birth and developmental history
Three generations, consanguinity, PED export
22 systems; present, absent, suspected, unknown, not assessed
Versioned terms with source, onset, severity, reviewer
Measurements, units, reference ranges, automatic flags
Tests, variants with HGVS and ACMG fields, file references
Suggestions with negation and uncertainty; human review required
Candidate genes and panels; clearly not a diagnosis
Cohort counts, HPO frequency, completeness, follow-up
Phenopacket, FHIR-mapped, TSV, CSV, PED, PDF report
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.