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DiseaseIntegration.md

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  1. summary Disease Integration

Introduction

Our primary focus here is on axiomatization of phenotypes.

Associations between diseases and phenotypes have been curated by Peter Robinson's group at Charite and by the [PATO] project team members. They are available from [PhenotypeCommons] and the HPO website

This project does consist of some preliminary work on axiomatizing diseases and integrating different disease resources.

Details

See the Monarch Initiative disease-miner repo on github to see the code for building the merged disease ontology

We use the OBO disease ontology (DOID) together with OMIM

The merged ontology is available from:

http://purl.obolibrary.org/obo/upheno/doid/merged.owl

See also:

http://purl.obolibrary.org/obo/upheno/doid/mappings - links to other ontologies