Rare Disease

Follow this topic Ask about this topic

Recent momentum

-67%

1 papers in the last 28 days · 0.0% of indexed attention

Twelve weeks of publication activity for this topic as it is defined today.

Weekly history

Recent digests

What was published in this topic, kept on the site without email delivery.

Period ending 2026-09-21

1 new paper

A weekly snapshot of new work published in Rare Disease.

29 papers

Latest in Rare Disease

Browse all topics →

HPOQuest: A Rare-Disease Diagnostic Agent Using Active Phenotype Acquisition
Sep 16, 2026Kamilia Zaripova, Nassir Navab, Azade Farshad +1Rare Disease Phenotypes
Multi-Level Evidence Aggregation for Robust Facial Phenotype Retrieval in Rare Genetic Disorder Prioritization
Aug 11, 2026Alexander Hustinx, Carolin Kaffiné, Behnam Javanmardi +2Phenotypes Rare Disease
MedUPS: Towards Diagnostic Assistance in Uncommon Medical Cases with Large Language Models
Aug 2, 2026Ofir Ben Shoham, Oriel Perets, Nir Grinberg +1Rare Disease Llm-As-A-Judge
GraphRareBench: An Auditable Graph-Evidence Benchmark for Phenotype-Driven Rare-Disease Diagnosis
Jul 27, 2026Guiling Guo, Jia Yang, Jiahao Xu +3Rare Disease Diagnostic Benchmark
Long-Tailed Medical Image Classification
Jul 26, 2026Nathanael Ren, Saagar AryaMedical Image Classification Extreme Class Imbalance
RareLens: Towards End-to-End Rare Disease Care via Aligning Divergent Large Language Model Reasoning
Jul 25, 2026Xi Chen, Hongru Zhou, Shiyu Feng +24Rare Disease Clinical Reasoning
Improving Rare Medication Recommendation with Counterfactual Data Augmentation and Large Language Models
Jul 23, 2026Shinhwan Kang, Soo Yong Lee, Jaewon Kim +2Medication Recommendation Framework Rare Disease
SYNRARE: Synthetic Rare Disease EHR Generation for ML Benchmarking
Jul 10, 2026Nicolai Dinh Khang Truong, Richard RöttgerRare Disease Electronic Health Records
TRCGL-Net: A Long-Tailed Multi-Label Chest X-Ray Classification Framework with Generative Data Augmentation and Label Co-Occurrence Modeling
Jul 1, 2026Tong Shao, Hongshun Ling, Li Zhang +4Chest X-Ray Chest Radiography
LLM-Guided ODE Discovery and Parameter Inference from Small-Cohort Aggregate Data
Jul 1, 2026Hanning Yang, Meropi Karakioulaki, Lennart Purucker +3Rare Disease Ordinary Differential Equations
RareDxR1: Autonomous Medical Reasoning for Rare Disease Diagnosis Beyond Human Annotation
Jun 30, 2026Deyang Jiang, Haoran Wu, Ziyi Wang +4Rare Disease Clinical Reasoning
Re-mixing Embeddings for Patient Augmentation in Data Scarce Multiple Instance Learning
Jun 24, 2026Muhammed Furkan Dasdelen, Fatih Ozlugedik, Anastasia Litinetskaya +3Synthetic Data Augmentation Multiple Instance Learning
A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trial
Jun 23, 2026Haichao Chen, Songchi Zhou, Zhengyun Zhao +28Rare Disease Clinical Reasoning
Evo-RAD: Navigating Rare Retinal Disease Diagnosis via Self-Evolving Agentic Retrieval
Jun 22, 2026Wangding Xia, Ye Du, Jiashi Lin +3Rare Disease Retinal Imaging
Teaching agentic AI to generalize expert diagnostic reasoning in rare diseases
Jun 15, 2026Minh-Ha Nguyen, Erica Gray, Bryce A. Schuler +16Rare Disease Clinical Reasoning
LatentDx: Latent Multi-Agent Communication for Cross-Hospital Rare-Disease Diagnosis
Jun 11, 2026Ziqing Wang, Lili Zhao, Kaize DingRare Disease Communication
Enhancing Spectral Embedding through Robust and Flexible Knowledge Transfer in Electronic Health Records
Jun 10, 2026Feiqing Huang, Zongqi Xia, Rong Ma +1Rare Disease Electronic Health Records
PrionNER: A Named Entity Recognition Dataset for Prion Disease Biomedical Literature
May 27, 2026An Dao, Nhan Ly, Thao Tran +2Named-Entity Recognition Natural Language Datasets
Synthetic Data Alone is Enough? Rethinking Data Scarcity in Pediatric Rare Disease Recognition
May 21, 2026Ganlin Feng, Yuxi Long, Erin Lou +4Synthetic Data Rare Disease
A Multi-Dimensional Clustering Approach for Identifying Inborn Errors of Immunity
May 16, 2026Nishad Kulkarni, Alexandra K. Martinson, Nicholas L. Rider +2Rare Disease Disease Detection
Flow Matching with Optimized Subclass Priors for Medical Image Augmentation
May 15, 2026Felix Nützel, Mischa Dombrowski, Bernhard KainzMedical Image Generation Synthetic Data Augmentation
Shapley Regression for Rare Disease Diagnosis Support: a case study on APDS
May 9, 2026Safa Alsaidi, Tomás Brogueira, Nizar Mahlaoui +5Rare Disease Phenotypes
A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization
May 7, 2026Tianyu Liu, Wangjie Zheng, Rui Yang +12Rare Disease Multimodal Agents
DMDSC: A Dynamic-Margin Deep Simplex Classifier for Open-Set Recognition on Medical Image Datasets
May 1, 2026Vishal, Arnav Aditya, Nitin Kumar +1Extreme Class Imbalance Medical Imaging Datasets
Dynamic Decision Learning: Test-Time Evolution for Abnormality Grounding in Rare Diseases
Apr 27, 2026Jun Li, Mingxuan Liu, Jiazhen Pan +4Medical Vision-Language Models Rare Disease
The Provenance Gap in Clinical AI: Evidence-Traceable Temporal Knowledge Graphs for Rare Disease Reasoning
Apr 18, 2026Md Shamim Ahmed, Maja Dusanic, Moritz Nikolai Kirschner +4Clinical Notes Rare Disease
CXR-LT 2026 Challenge: Multi-Center Long-Tailed and Zero Shot Chest X-ray Classification
Apr 16, 2026Hexin Dong, Yi Lin, Pengyu Zhou +25Chest Radiography Rare Disease
Accurate and Scalable Multimodal Pathology Retrieval via Attentive Vision-Language Alignment
Oct 27, 2025Hongyi Wang, Zhengjie Zhu, Junlin Hou +13Whole-Slide Images Computational Pathology
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Text
Dec 23, 2023Da Wu, Zhanliang Wang, Hongzhuo Chen +12Rare Disease Multimodal Clinical Data

Sep 16, 2026 · cs.AIJ/K move · Enter open · S save

HPOQuest: A Rare-Disease Diagnostic Agent Using Active Phenotype Acquisition

Kamilia Zaripova, Nassir Navab, Azade Farshad, Annalisa Marsico

More than 300 million people worldwide are affected by one of over 7,000 known rare diseases, yet diagnosis remains difficult because patients initially present with incomplete and heterogeneous phenotypes. We present HPOQuest, a training-free framework for sequential phenotype acquisition in rare-disease diagnosis. Starting from a small set of observed patient phenotypes, HPOQuest maintains a probabilistic disease ranking and iteratively selects informative follow-up questions to support clinicians during patient assessment. Confirmed phenotypes update the disease ranking, while all responses update the candidate question set. Across four benchmark cohorts, HPOQuest substantially improves diagnosis from sparse initial phenotypes, with gains of up to 30% points at Recall@1 and 45% points at Recall@5. These results demonstrate that sequential phenotype acquisition can substantially improve rare-disease diagnosis from limited initial clinical evidence.

Rare Disease Phenotypes Diagnostic Benchmark Active Perception

Open paper Ask about it PDF