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Coverage of phenotypes in standard terminologies.

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Winnenburg R, Bodenreider O
Joint Bio-Ontologies and BioLINK ISMB'2014 SIG session "Phenotype Day" 2014:41-44. 
Abstract: 

Objective: To assess the coverage of the Human Phenotype Ontology (HPO) phenotypes in standard terminologies. Methods: We map HPO terms to the UMLS and its source terminologies and compare these lexical mappings to HPO cross-references. Results: Coverage of HPO classes in UMLS is 54% and 30% in SNOMED CT. Lexical mappings largely outnumber cross-references. Conclusions: Our approach can support the development of cross-references to standard terminologies in HPO.

Winnenburg R, Bodenreider O. Coverage of phenotypes in standard terminologies. Joint Bio-Ontologies and BioLINK ISMB'2014 SIG session "Phenotype Day" 2014:41-44.