Disease or Phenotype


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

Annotation data

Data source

Description; cross-references; synonyms; location; ontology and classification


Clinical signs and symptoms



Open Targets