togovar_search_disease
Resolve a disease name to MONDO or MedGen identifiers for variant queries, prioritizing exact matches over loose token matches to improve search accuracy.
Instructions
Resolve a disease term to MONDO / MedGen IDs for variant search.
The returned mondo_id (or MedGen CUI) is what search_variant takes as
disease_id. Both land directly on TogoMCP's existing mondo/medgen RDF
databases and TogoID nodes.
The TogoVar endpoint does loose token matching with no relevance order (a
query like "cystic fibrosis" also returns unrelated "Hepatic fibrosis…"
rows), so this tool RE-RANKS client-side: exact label match first, then
prefix, then whole-word, then loose token matches last. Each result carries
match_type ("exact"|"prefix"|"word"|"fuzzy") — a top hit that is not
exact means no exact label matched.
COVERAGE LIMIT: TogoVar only indexes diseases that have ClinVar/MGeND
variant associations, so some canonical/parent MONDO terms are simply absent
here (e.g. MONDO_0007254 "breast cancer" does NOT appear in these results).
But a broad/parent MONDO ID still WORKS as a disease_id in search_variant
even when unlisted here — the variant search resolves it via MONDO descendant
expansion (MONDO_0007254 -> ~24,550 variants). So if you know or can resolve
the canonical MONDO ID (e.g. via OLS4 or the mondo RDF database), pass it
straight to search_variant; do not assume this resolver is exhaustive.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Max matches to return, in [1, 100]. Default 10. | |
| query | No | Disease term, e.g. 'breast cancer'. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |