Mondo Disease Ontology

GPTKB entity

Statements (45)
Predicate Object
gptkbp:instanceOf gptkb:dictionary
gptkbp:abbreviation MONDO
gptkbp:citation Vasilevsky et al., 2022, Nature Genetics
gptkbp:contains disease definitions
cross-references to other ontologies
disease synonyms
disease terms
gptkbp:creator gptkb:Monarch_Initiative
gptkbp:crossReferences gptkb:Orphanet
gptkb:UMLS
gptkb:MeSH
gptkb:OMIM
gptkb:SNOMED_CT
gptkb:ICD-10
DOID
NCIt
gptkbp:doi 10.5281/zenodo.5738527
gptkbp:firstReleased 2018
gptkbp:focus gptkb:disease
gptkbp:format gptkb:JSON
gptkb:OWL
gptkb:OBO
gptkbp:frequency monthly
gptkbp:github https://github.com/monarch-initiative/mondo
gptkbp:goal improve disease data interoperability
unify disease definitions across resources
https://www.w3.org/2000/01/rdf-schema#label Mondo Disease Ontology
gptkbp:language English
gptkbp:license CC BY 4.0
gptkbp:maintainedBy gptkb:Monarch_Initiative
gptkbp:terminalCount over 22,000
gptkbp:usedBy gptkb:NCBI
gptkb:ELIXIR
gptkb:Open_Targets
gptkb:Human_Phenotype_Ontology
gptkb:GA4GH
ClinGen
PhenoTips
gptkbp:usedFor bioinformatics
clinical research
rare disease research
disease harmonization
gptkbp:website https://mondo.monarchinitiative.org/
gptkbp:bfsParent gptkb:EBI_Ontology_Lookup_Service
gptkbp:bfsLayer 7