Phenotype Matching Needs Structure
Flat keyword overlap treats every finding as equally informative and ignores the ontology connecting specific phenotypes to their ancestors.
phenorank traverses a compact HPO graph, computes information content, rewards exact coverage, handles excluded findings, and exposes every candidate score.
The Demo
MONDO:001 ranks first at 0.6334, 0.2554 ahead of the runner-up. It remains first in three of three leave-one-phenotype-out trials, making the ranking stable rather than merely high.
The bundled ontology is intentionally small and deterministic. Clinical use requires current HPO releases, curated disease annotations, inheritance, variant evidence, and expert review.
Research Basis
Recent benchmarking recommends phenotype-driven tools such as Exomiser and Genomiser as components of rare-disease prioritization workflows.