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Human Phenotype Ontology
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- Artificial Intelligence (1)
- Rare Disease Diagnosis (1)
- Medical Technology (1)
- Clinical Workflow (1)
🏷️ Keywords
Rare Disease Phenotyping (1) · Large Language Models (1) · RARE-PHENIX (1) · Medical AI (1) · Clinical Notes (1) · Human Phenotype Ontology (1) · Undiagnosed Diseases Network (1) · Vanderbilt University Medical Center (1)
📖 Key Information
The Human Phenotype Ontology (HPO) is a formal ontology of human phenotypes. Developed as part of the Monarch Initiative in collaboration with members of the Open Biomedical Ontologies Foundry, HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. Data from Online Mendelian Inheritance in Man and medical literature were used to generate the terms currently in the HPO. The ontology contains over 50,000 annotations between phenotypes and hereditary disease.
📰 Related News (1)
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🇺🇸 An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language models
arXiv:2602.20324v1 Announce Type: new Abstract: Phenotyping is fundamental to rare disease diagnosis, but manual curation of structured phenotypes fr...
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Large language model · 1 shared articles