Ontology Term Resolution

Ontology Term Resolution

When to use

Any time an ontology identifier is about to be written down or trusted: annotating a metadata column, filling a submission template, auditing a table someone else produced, or checking whether an ID in an old file is still current.

The rule

Never write an ontology ID from memory, and never accept one without checking it.

Ontology IDs are memorable in form and arbitrary in detail. A plausible-looking UBERON:0002108 is a real term (small intestine) that is not the liver, and nothing downstream will catch the substitution — the ID is well-formed, the ontology is right, and the metadata is silently wrong. Reviewers cannot spot it either, which is why these errors persist into published datasets.

Every ID this skill emits comes from a live OLS lookup. Every ID it is handed gets verified. Bioregistry, Identifiers.org, ZOOMA, and Ontobee answer prefix, landing-page, and shorthand questions — they do not replace that OLS check.

Which service

All four scripts take single values or files, emit TSV or JSON, and need no packages beyond the standard library. Full traps for the non-OLS services are in references/companion-apis.md.

Resolve text to terms

cd skills/ontology-term-resolution/scripts

# one string, constrained to the ontology that should define it
python3 resolve_terms.py "liver" --ontology uberon

query   rank  curie           label  ontology  match_type   strategy  defining_ontology
liver   1     UBERON:0002107  liver  uberon    exact_label  exact     true

# a column of tissue names; anything not an exact hit is reported, not guessed
python3 resolve_terms.py --input tissues.txt --ontology uberon \
    --exact-only --format tsv -o resolved.tsv

# accept fuzzy fallbacks, then review the partial hits by hand
python3 resolve_terms.py "left ventrical of heart" --ontology uberon --top 3

The search escalates exact (label and synonym) → token → fulltext and stops at the first strategy that returns anything, reporting which one fired. --exact-only disables the ladder. --branch UBERON:0000465 restricts candidates to descendants of a term.

Read `match_type` before using a result. exact_label and exact_synonym are safe; partial means OLS returned its best guess for a string that does not exist as written, and needs a human decision. unresolved is a legitimate output — see references/curation-rules.md for the normalisations worth retrying first.

Validate existing IDs

python3 validate_terms.py UBERON:0002107 EFO:0001067 UBERON:9999999

id              status     actual_label                  ontology  replacement     detail
UBERON:0002107  ok         liver                         uberon
EFO:0001067     obsolete   obsolete_parasitic infection  efo       MONDO:0005135   obsolete; replaced by MONDO:0005135
UBERON:9999999  not_found                                                          no such term in the ontology this prefix names

Exit code is 1 if anything failed, 0 otherwise, 2 on usage or network trouble — so it works as a CI gate on a metadata file:

# id + label columns; catches IDs that exist but are labelled as something else
python3 validate_terms.py --input metadata.tsv --strict

# a tissue column must hold UBERON anatomical entities and nothing else
python3 validate_terms.py --input tissue_ids.tsv \
    --branch UBERON:0000465 --expect-ontology uberon

--strict promotes warnings to failures.

Check a prefix or compact identifier

python3 lookup_prefix.py HP HPO HP:0001250 HPO:0001250

query        status          preferred_prefix  canonical_curie  pattern    detail
HP           ok              HP                                 ^\d{7}$
HPO          synonym_prefix  HP                                 ^\d{7}$    'HPO' is a synonym of preferred prefix HP
HP:0001250   ok              HP                HP:0001250       ^\d{7}$
HPO:0001250  synonym_prefix  HP                HP:0001250       ^\d{7}$    'HPO' is a synonym of preferred prefix HP

Bioregistry accepts synonym prefixes. Identifiers.org does not — HPO:0001250 is HTTP 400. Rewrite to the preferred prefix before handing a CURIE to OLS. Landing-page columns come from Bioregistry mappings (providers.miriam, mappings.ontobee), not from templating that preferred prefix: ORPHA:558 is a 400, orphanet:558 is a 200, and OBA has no Identifiers.org namespace at all. Empty cells mean the service does not host the prefix. This script does not say the term exists; that is still validate_terms.py.

Map lab shorthand (ZOOMA)

# after resolve_terms.py returned unresolved / partial
python3 map_terms.py PBMC --ontology cl --exact-only

--ontology is required. Unfiltered ZOOMA annotate returns FOODON, XAO, and BTO alongside UBERON for liver, all at HIGH confidence. HIGH/GOOD hits are candidates only — run validate_terms.py on every CURIE before writing it down.

API behaviour that will mislead you

These are verified against the live service and are the reason this skill ships scripts rather than a recipe. Full detail in references/ols4-api.md.