> ## Documentation Index
> Fetch the complete documentation index at: https://docs.catalog.igvf.org/llms.txt
> Use this file to discover all available pages before exploring further.

# Disease

# Disease Nodes

Disease pages resolve ontology-backed disorders and layer IGVF relationship data on top of the shared node shell.

## Association Network

* The page pulls up to 50 disease–gene links from `https://api.catalogkg.igvf.org/api/diseases/genes` (Homo sapiens) and renders them with a force-directed canvas.
* Node radius scales with connection count; teal nodes are diseases, coral nodes are genes. Clicking a gene routes to its `/ENSG*` page.
* Edge opacity reflects assertion strength (Pathogenic > Likely pathogenic > … > Benign), signalling confidence before consulting tabular evidence.

## Ontology Relationships

* Parent and child term tables expose relationship type, target term ID/name, description, source URI, subontology, and synonyms.
* Tables support column sorting, and synonym lists stay expandable for lengthy vocabularies.
* When related terms exist, the "Enter Closure End" prompt opens `/[node_id]/closure/[end_id]` so curators can explore the transitive closure graph without leaving the page.

## Page Data Tables

* **Associated Variant**: ClinGen assertions from `api/diseases/variants` list rsIDs (linked to `/rs*` views), implicated genes, assertion labels, supporting PMIDs (expandable), and the reporting source/URL.
* **Files and Fileset**: IGVF/ENCODE entries from `api/files-filesets` scoped by `sample_term`. Columns cover fileset accession, assay titles, method/class, software, sample summaries, ontology samples/donors (converted to internal links), and source labels.
* Both tables offer search, pagination with a selectable page size (defaults to 10 rows), CSV export, and X-Ray instrumentation.

## External Sources

* Disease definitions cite Orphanet (and related ontologies) through the catalog's external attribution list.
* Variant assertions reference ClinGen, giving reviewers a direct line back to the curation authority.

Together the disease node experience ties ontology metadata to IGVF gene, variant, and assay evidence while keeping provenance explicit.