{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:18:59Z","timestamp":1785403139675,"version":"3.56.0"},"reference-count":26,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T00:00:00Z","timestamp":1780531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004054","name":"King Abdulaziz University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004054","id-type":"DOI","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/02ma4wv74","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sensors"],"abstract":"<jats:p>Rare-disease diagnosis is difficult because clinicians must identify plausible conditions from a large, severely imbalanced disease space using evidence distributed across clinical narratives, structured findings, and image-linked descriptions. This paper presents a hybrid pipeline with caption-mediated multimodal fusion for ranked rare-disease diagnosis and grounded explanation, developed and evaluated on the ZebraMap multimodal case-report dataset (69,146 structured cases; 1727 diseases). Grouped train\u2013validation\u2013test splitting by source article was applied to prevent leakage, and a sequential pipeline was constructed combining BM25 lexical retrieval, a class-balanced TF\u2013IDF classifier, MedCPT dense retrieval and cross-encoder reranking, caption-based image-aware late fusion, and post hoc grounded explanation generation. The final pipeline achieved test MRR 0.3905 and Recall@10 0.5507 (nDCG@10 0.4273), while the strongest individual component, the class-balanced TF\u2013IDF classifier, reached MRR 0.4200 and Recall@10 0.6279; the hybrid pipeline therefore integrates ranking with grounded explanation rather than maximizing single-metric diagnostic accuracy. On 256 explained cases, the explanation module achieved citation coverage 0.7334 and usefulness 3.8734, exposing a tradeoff between diagnostic accuracy and explanation richness. These results indicate that a hybrid retrieval-and-classification approach can support ranked rare-disease differential diagnosis and that grounded explanation quality can be evaluated quantitatively, extending computational support for the prolonged rare-disease diagnostic process.<\/jats:p>","DOI":"10.3390\/s26113582","type":"journal-article","created":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T17:11:04Z","timestamp":1780593064000},"page":"3582","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare-Disease Diagnosis on the ZebraMap Multimodal Case Report Dataset: A Hybrid Pipeline with Grounded Explainability"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9563-2419","authenticated-orcid":false,"given":"Md Sanzidul","family":"Islam","sequence":"first","affiliation":[{"name":"Department of Computer Science, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Department of Computer Science, Faculty of Science and Information Technology, Daffodil International University, Birulia 1216, Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9725-7985","authenticated-orcid":false,"given":"Amani","family":"Jamal","sequence":"additional","affiliation":[{"name":"Department of Computer Science, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Center of Research Excellence in Artificial Intelligence and Data Science, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0715-3363","authenticated-orcid":false,"given":"Ali","family":"Alkhathlan","sequence":"additional","affiliation":[{"name":"Department of Computer Science, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating Cumulative Point Prevalence of Rare Diseases: Analysis of the Orphanet Database","volume":"28","author":"Lambert","year":"2020","journal-title":"Eur. 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