Integrating rare diseases and radiological diagnosis
Integrating ontologies of rare diseases and radiological diagnosis
A study published in Journal of the American Medical Informatics Association describes the integration of Orphanet Rare Disease Ontology (ORDO) with the Radiology Gamuts Ontology (RGO). The authors utilised semi-automated string-matching for ORDO terms to RGO terms leading to the matches of 1587 terms. Additional 700 ORDO terms whose names were hyphenated lists of phenotypic features were added to RGO with causal links from the disease name to the various features. The authors found integrating these ontologies expanded the set of terms and scope of knowledge available for radiological differential diagnosis and that the terms that were matched were more likely to have higher disease prevalence.
