Phenotypes

Manage HPO phenotypes to inform variant interpretation.

The Phenotypes tab lets you manage HPO (Human Phenotype Ontology) terms that describe the patient’s clinical presentation. Phenotypes drive variant filtering and help Purna prioritize clinically relevant variants.

Adding phenotypes

Two methods are available for adding phenotypes to your case:

AI Assist

Click the AI Assist tab and provide a clinical description of the patient’s symptoms. Purna suggests relevant HPO terms based on your description. Review the suggestions and add the ones that apply.

Manual search

Click the Search tab and type a phenotype name or HPO identifier (e.g., “HP:0001250” for Seizure). Browse results and click to add phenotypes to your case.

Managing phenotypes

Added phenotypes appear as cards showing the phenotype name and HPO ID. Remove a phenotype by clicking the X on its card.

Using phenotypes as variant filters

Phenotypes become powerful filtering tools in the Variants tab:

• Primary Phenotypes — Toggle “Use case phenotypes” in the filter panel to automatically filter variants by your case’s HPO terms. Active phenotypes display as removable chips.
• Secondary Phenotypes — Apply additional phenotype-based filtering beyond primary phenotypes for more granular analysis.

Use AI Assist to quickly populate phenotypes from a clinical summary, then refine the list manually. Phenotype-driven filtering is one of the most effective ways to prioritize clinically relevant variants.