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 EFO. 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	EFO
Clinical signs and symptoms	HPO and MONDO
Bibliography	Open Targets