# OntologyAligner: Ontology-Aligned Retrieval and Hierarchy-Guided Large Language Model Reranking for Biomedical Ontology Normalization

arXiv: https://arxiv.org/abs/2609.10055 · HTML: https://mlsanity.com/paper/2609.10055/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 5 of its 13 references that are in the map.
- First posted on arXiv 9 Sep 2026.

## Builds on (most cited first, 5 of 5)

- [BioBERT: a pre-trained biomedical language representation model for biomedical text mining](https://mlsanity.com/paper/1901.08746/) (2019)
- [Biomedical Entity Representations with Synonym Marginalization](https://mlsanity.com/paper/2005.00239/) (2020)
- [Generative Biomedical Entity Linking via Knowledge Base-Guided Pre-training and Synonyms-Aware Fine-tuning](https://mlsanity.com/paper/2204.05164/) (2022)
- [BioLORD: Learning Ontological Representations from Definitions (for Biomedical Concepts and their Textual Descriptions)](https://mlsanity.com/paper/2210.11892/) (2022)
- [BELHD: Improving Biomedical Entity Linking with Homonoym Disambiguation](https://mlsanity.com/paper/2401.05125/) (2024)

## Abstract (arXiv)

Biomedical ontology normalization maps free-text expressions to standardized concepts, enabling consistent integration and analysis of biomedical data. This task remains challenging because lexical variation and subtle distinctions among hierarchically related concepts can obscure concept boundaries. We present OntologyAligner, a three-stage framework that combines ontology-aligned retrieval, large language model candidate reranking, and selective hierarchy-guided refinement. We also construct PhenoNormBench, a unified benchmark comprising 13,390 samples from seven Human Phenotype Ontology datasets. OntologyAligner achieved state-of-the-art performance on HPO normalization, with 88.78% Macro Top-1 Accuracy and 86.75% Micro Top-1 Accuracy, exceeding the strongest baseline by 4.85 and 5.07 percentage points, respectively. Ablation analyses showed complementary contributions from all three stages, and sensitivity analyses demonstrated stability across candidate-set sizes and model backbones. Applications to MONDO, MEDIC, and NCBITaxon further established portability to other ontologies. OntologyAligner offers a generalizable framework for accurate mapping of biomedical text to structured ontology concepts. PhenoNormBench and the code are publicly available at https://github.com/zhelishisongjie/OntologyAligner.