Genetic Tools · Phase 38 · Rare-disease diagnostic support
Rare Disease Phenotype Prioritizer
Enter Human Phenotype Ontology (HPO) terms to rank candidate diseases. Results explicitly show the disease name, identifier, phenotype-similarity context, candidate genes when returned, and a cautious interpretation. The result is a prioritization aid, not a diagnosis.
Use 1–20 HPO identifiers. You may add labels after the IDs; only the HP:xxxxxxx identifiers are sent.
Ready.
Disease candidates and interpretation
| Rank | Disease name | Disease ID | Similarity | Matched phenotype context | Candidate genes | Interpretation | Next |
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