In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton Syndrome
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ID: 317583
2026
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Abstract
This study brings the Human Phenotype Ontology into dermatology, refining and expanding its use for Netherton syndrome. The updated terms significantly boost diagnostic performance and enhance clinical phenotyping. It highlights the promise of ontology-based tools for rare skin diseases.
| Reference Key |
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| Authors | Edwin Cuperus, Suzanne G.M.A. Pasmans, H. Han, Adam S. Arterbery, Daniel Daniš, Michel van Geel, Cristina Has, Lisa Weibel, Katariina Hannula‐Jouppi, Christine Bodemer, Alain Hovnanian, Peter N. Robinson, Mariëlle van Gijn |
| Journal | the british journal of dermatology |
| Year | 2026 |
| DOI |
10.1093/bjd/ljag249
|
| URL | |
| Keywords | Keywords not found |
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