Mondo Disease Ontology
A global community effort to harmonize multiple disease resources to yield a coherent merged ontology.
The Mondo Disease Ontology (Mondo) aims to harmonize existing disease terminologies into a coherent ontological representation of diseases. Mondo integrates widely used terminologies such as Online Mendelian Inheritance in Man (OMIM), Orphanet, Experimental Factor Ontology (EFO), Disease Ontology (DOID), ICD 11 (Foundation) and the neoplasm branch of National Cancer Institute Thesaurus (NCIt). Mondo aims to track provenance and attribution for every integrated part of the disease definition to serve a wide range of data integration and cross-terminology analysis use cases.
A key part of Mondo is the curation of precise mappings across resources. These mappings are available in two ways:
- The official Mondo disease mappings in SSSOM format: https://github.com/monarch-initiative/mondo/tree/master/src/ontology/mappings
- As part of the various Mondo release products (both as SKOS mappings and oboInOwl:hasDbXref cross-references).
| mondo.owl | Main OWL edition | Complete ontology. Uses MONDO IDs. Imports merged. The original mondo.owl without merged imports and with equivalence axioms can now be obtained from the release pages and is called mondo-with-equivalents. |
| mondo.obo | obo-format edition | As OWL. xrefs can be used as proxy for equivalence. Uses Mondo IDs. |
| mondo.json | json edition | Equivalent to the OWL edition. |
| mondo/mondo-base.owl | Mondo Base Module | The main ontology plus axioms connecting to select external ontologies, excluding the external ontologies themselves |
- User
- https://monarchinitiative.org/
- Description
- Mondo is used by the Monarch Initiative for disease annotations.
- Type
- annotation
- Examples
- Parkinsonism: Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
- Publications
- User
- https://www.clinicalgenome.org/
- Description
- Mondo is used by the ClinGen for disease curations.
- Type
- annotation
- Examples
- FBN1 is an autosomal dominant mutation in Marfan syndrome.
- User
- https://portal.kidsfirstdrc.org/
- Description
- Mondo is used by the Kids First Data Resource Portal for disease annotations. Note, a login is needed to access the portal and view the Mondo-curated data.
- Type
- annotation
- User
- https://www.ancestry.com/
- Description
- Mondo is used by the Ancestory for some disease curations.
- Type
- annotation
- Examples
- Some term names in ancestory.com are curated with Mondo, for ease of use.
- User
- https://www.humancellatlas.org/
- Description
- Mondo is used by the Human Cell Atlas for some disease annotations.
- Type
- annotation
- Examples
- Disease status specimen is normal, type 2 diabetes mellitus.
- ID Space
- mondo
- PURL
- http://purl.obolibrary.org/obo/mondo.owl
- License
- CC BY 4.0
- Homepage
- https://monarch-initiative.github.io/mondo
- Contact
- Nicole Vasilevsky
- 0000-0001-5208-3432
- @nicolevasilevsky
- Repository
- https://github.com/monarch-initiative/mondo
- Tracker
- https://github.com/monarch-initiative/mondo/issues
- Domain
- health
- Mailing List
- https://groups.google.com/group/mondo-users
- Taxon
- Metazoa
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- Stars
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- Contributors
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- Last Commit
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- OBO Dashboard
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