# Hyperbolic Graph Representation Learning for Differential Diagnosis on Biomedical Knowledge Graphs

arXiv: https://arxiv.org/abs/2609.18481 · HTML: https://mlsanity.com/paper/2609.18481/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 15 of its 37 references that are in the map.
- First posted on arXiv 16 Sep 2026.

## Builds on (most cited first, 15 of 15)

- [Semi-Supervised Classification with Graph Convolutional Networks](https://mlsanity.com/paper/1609.02907/) (2016)
- [Graph Attention Networks](https://mlsanity.com/paper/1710.10903/) (2017)
- [Modeling Relational Data with Graph Convolutional Networks](https://mlsanity.com/paper/1703.06103/) (2017)
- [RotatE: Knowledge Graph Embedding by Relational Rotation in Complex Space](https://mlsanity.com/paper/1902.10197/) (2019)
- [Poincar'e Embeddings for Learning Hierarchical Representations](https://mlsanity.com/paper/1705.08039/) (2017)
- [Hyperbolic Graph Convolutional Neural Networks](https://mlsanity.com/paper/1910.12933/) (2019)
- [Neural Bellman-Ford Networks: A General Graph Neural Network Framework for Link Prediction](https://mlsanity.com/paper/2106.06935/) (2021)
- [Hyperbolic Graph Neural Networks](https://mlsanity.com/paper/1910.12892/) (2019)
- [Low-Dimensional Hyperbolic Knowledge Graph Embeddings](https://mlsanity.com/paper/2005.00545/) (2020)
- [Multi-relational Poincar'e Graph Embeddings](https://mlsanity.com/paper/1905.09791/) (2019)
- [RareBench: Can LLMs Serve as Rare Diseases Specialists?](https://mlsanity.com/paper/2402.06341/) (2024)
- [An Open-Source Knowledge Graph Ecosystem for the Life Sciences](https://mlsanity.com/paper/2307.05727/) (2023)
- [Semi-Supervised Hierarchical Drug Embedding in Hyperbolic Space](https://mlsanity.com/paper/2006.00986/) (2020)
- [Product Manifold Representations for Learning on Biological Pathways](https://mlsanity.com/paper/2401.15478/) (2024)
- [Hyperbolic Graph Neural Networks Under the Microscope: The Role of Geometry-Task Alignment](https://mlsanity.com/paper/2602.01828/) (2026)

## Abstract (arXiv)

Biomedical knowledge graphs combine ontology-derived hierarchies with transversal associations among heterogeneous entities such as phenotypes, diseases, genes, proteins, and patients. This hybrid structure raises the question of whether hyperbolic embeddings, which naturally capture tree-like organization, remain useful beyond purely hierarchical graphs. We present a preliminary study of hyperbolic graph representation learning for Mendelian-disease differential diagnosis on a patient-integrated biomedical graph. Experiments on isolated ontology subgraphs show that hyperbolic models achieve strong performance in substantially lower dimensions than Euclidean baselines. We then evaluate the models on a link-prediction task that ranks candidate diseases for each patient. Results suggest that hyperbolic embeddings can exploit biomedical hierarchical structure while supporting diagnostic reasoning over heterogeneous patient-level graphs.
