# 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](https://www.ebi.ac.uk/efo/) (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](https://github.com/EBISPOT/efo/releases).

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## Disease or phenotype annotation data sources

| Annotation data                                                                                                       | Data source                                                                      |
| --------------------------------------------------------------------------------------------------------------------- | -------------------------------------------------------------------------------- |
| Description; cross-references; synonyms; location; ontology and classification                                        | [EFO](https://www.ebi.ac.uk/efo/)                                                |
| [Drugs and Clinical Candidates](https://platform-docs.opentargets.org/disease-or-phenotype/drugs)                     | [Open Targets](https://github.com/opentargets/clinical_mining)                   |
| [Clinical signs and symptoms](https://platform-docs.opentargets.org/disease-or-phenotype/clinical-signs-and-symptoms) | [HPO](https://hpo.jax.org/app/) and [MONDO](https://mondo.monarchinitiative.org) |
| [Bibliography](https://platform-docs.opentargets.org/bibliography)                                                    | [Open Targets](https://platform-docs.opentargets.org/bibliography)               |