If you’ve ever wished there was GO but for phenotypes instead of gene functions, check out uPheno!
In a preprint just made available in bioRxiv, Matentzoglu and many past/present GO Consortium members and Alliance representatives detail their work on the new Unified Phenotype Ontology (uPheno).
uPheno is a framework for consistent and logical definition of phenotype categories. uPheno currently integrates 12 species-specific phenotype ontologies and helps make datasets interoperable across species:
The uPheno ontology is a logic (OWL) based ontology that combines existing phenotype ontologies into a single ontology and introduces common grouping classes such as UPHENO:0082544 “mitochondrion phenotype”. For example, HP:0001640 “Cardiomegaly”, MP:0000274 “enlarged heart” and ZP:0000532 “heart increased size, abnormal” all classify under a common species-neutral grouping UPHENO:0001471 “increased size of the heart”, which is in turn classified under UPHENO:0075162 “size of heart phenotype”.
uPheno is used by or will soon be used by the International Mouse Phenotyping Consortium (IMPC), MGI, and the Monarch Initiative, and other influential groups.
Explore uPheno using OLS: Ontology Lookup Service (OLS)
Find the bioRxiv paper here: The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics