Learning to Fuse LLMs with Ontology Rankers for Rare-Disease Diagnosis

arXiv:2609.02473 · cs.CL · Submitted 2026-09-02 · Read on arXiv

cs.CL

Submitted: 2026-09-02

Updated: 2026-09-02

Code: https://github.com/Anonymous-Awesome-Submissions/PhenoGate

Terminology

• Ontology — 78× in this paper · explained in 2 episodes
• Benchmark — 22× in this paper · explained in 2 episodes
• Provenance — 13× in this paper · explained in 3 episodes
• Accuracy — 7× in this paper · explained in 1 episode
• Semantic Similarity — 7× in this paper · explained in 2 episodes
• Ablation — 4× in this paper · explained in 1 episode
• Human Phenotype Ontology — 4× in this paper
• Adam — 3× in this paper · explained in 2 episodes
• Aggregation — 3× in this paper · explained in 1 episode
• Hallucination — 3× in this paper · explained in 3 episodes
• Verifier — 3× in this paper · explained in 2 episodes
• Deferral — 2× in this paper · explained in 2 episodes
• Agentic System — 1× in this paper · explained in 2 episodes
• Alignment — 1× in this paper · explained in 1 episode
• Benchmarking — 1× in this paper · explained in 3 episodes
• Calibration — 1× in this paper · explained in 7 episodes
• Consistency — 1× in this paper · explained in 3 episodes
• Core — 1× in this paper · explained in 2 episodes
• Data Fusion — 1× in this paper · explained in 3 episodes
• Elias — 1× in this paper · explained in 2 episodes
• Explainability — 1× in this paper · explained in 3 episodes
• Granularity Mismatch — 1× in this paper · explained in 2 episodes
• Large Language Models (LLMs) — 1× in this paper · explained in 6 episodes
• Regularization — 1× in this paper · explained in 3 episodes
• Robustness — 1× in this paper · explained in 5 episodes
• Semantic Alignment — 1× in this paper · explained in 3 episodes
• alpha — 1× in this paper · explained in 1 episode

Sources

• L2D-Clinical: Learning to Defer for Adaptive Model Selection in Clinical Text Classification
• Search-Time Contamination in Deep Research Agents: Measuring Performance Inflation in Public Benchmark Evaluation

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