Ontology Terms

The IGVF Catalog uses a set of ontologies to represent biological and experimental concepts and identities that are useful in annotation entities and contexts. The graph nature of the ontologies themselves are represented explicitly by edges between ontology terms representing parentage or other relationships. Additional edges exist between other entities as well. Many edges are annotated with a link or hyperlink to an ontology term in Uberon, CL, CLO, or Cellosaurus, representing the biological context where the measurement or prediction was made.

Disease-Gene Association Network

A graph showing the Disease and Genes it’s linked to (only Disease ontologies)

Ontology Term Parents Table

This table shows the parent terms of the current ontology term you’re viewing.

Ontology Term Children Table

This table displays the child terms of the current ontology term.

Transitive Closure

At the bottom of the page, you’ll see a link labeled “Enter Closure End”. This feature allows you to explore the relationship between the current term and any other term in the ontology. To use this feature:
  1. Click on “Enter Closure End”
  2. A prompt will appear asking you to enter another ontology term
  3. Type in the term ID (e.g., UBERON_0014892)
  4. Press Enter or click OK
  5. You’ll be taken to a new page showing the relationship path between the current term and the one you entered
Each table can be sorted by clicking on the column headers. You can also use the search box above each table to filter the results.

Associated Variants (Disease terms)

Variant-Disease-Genes annotations are loaded from the ClinGen database, also found on the Variant pages

Genes (Disease terms)

Disease-Gene edges are loaded in the IGVF Catalog from [Orphanet](https://www.orpha.net/, also found on the Gene pages

Protein - GO Annotations

Proteins (technically gene products) are annotated by the Gene Ontology project GAF files; these are represented as edges between proteins and ontology (GO) terms. These are displayed in on the Protein