Wherever possible the VCI and GCI ensures rigorous and standardized data capture of specific evidence types by the use of ontologies and controlled vocabularies (examples shown in table below).
Most ontologies can be searched using the EMBL-EBI Ontology Lookup Service. We provide detailed guidance on how to look up MONDO disease terms and HPO phenotypes.
| Ontology/Vocabulary System | Topic Covered | Resource Information |
|---|---|---|
HUGO Gene Nomenclature Committee (HGNC)
gene nomenclature
Human Genome Variation Society (HGVS)
variant nomenclature
Monarch Disease Ontology (MonDO)
disease descriptions
Online Mendelian Inheritance in Man (OMIM)
disease descriptions
Human Phenotype Ontology (HPO)
phenotypic descriptions
ClinGen Allele Registry (CAR)
canonical alleles
Gene Ontology (GO)
cell processes and interactions
Sequence Ontology (SO)
molecular consequences
Uber-anatomy Ontology (UBERON)
anatomy (organs/tissues)
NCBI Organismal Taxonomy (NCBITAXON)
organism descriptions
BioAssay Ontology (BAO)
functional data
Cell Ontology (CL)
cell lines and cell culture models
Experimental Factor Ontology (EFO)
cell lines and cell culture models
Mammalian Phenotype Ontology (MP)
non human model organisms
Measurement Method Ontology (MMO)
clinical and phenotypic measurement methods
Molecular Interactions Controlled Vocabulary (MI)
protein-protein interactions
Scientific Evidence & Provenance Ontology (SEPIO)
provenance of scientific claims