A disease or phenotype in the Platform is understood as any disease, phenotype, biological process or measurement that might have any type of causality relationship with a human target. The EMBL-EBI Experimental Factor Ontology (EFO) is used as scaffold for the disease or phenotype entity.
In order to maximise the alignment of the ontology with a clinical application, a few modifications have been added to the EFO ontology. Some high-level terms have been removed (e.g. disease by anatomical region) and others have been rearranged to align them to a less-anatomical and more clinical interpretation. For each EFO release, the EFO OTAR slim can be found in parallel with the official EFO release.
Disease or phenotype annotation data sources
Description; cross-references; synonyms; location; ontology and classification