Disease or Phenotype

Overview

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.

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