Hello, thanks for all the work you do with the ontologies. I am reporting the behaviour below as I found it affected some of my results.
Kind regards!
Describe the bug
EFO ontology search returns incorrect MONDO mapping for Orphanet:761. When searching for this Orphanet ID in EFO, it returns MONDO:0017853 (hypersensitivity pneumonitis) instead of the correct disease mapping MONDO:0019167 (immunoglobulin A vasculitis).
To Reproduce
Search EFO ontology for Orphanet:761: https://www.ebi.ac.uk/ols4/api/search?q=Orphanet:761&ontology=efo&exact=true
Observe returned result: MONDO:0017853 with label "hypersensitivity pneumonitis"
Compare with correct mapping by searching all ontologies: https://www.ebi.ac.uk/ols4/api/search?q=Orphanet:761&exact=true
See that correct mapping exists: MONDO:0019167 with label "immunoglobulin A vasculitis"
Expected behavior
Orphanet:761 should map to "Immunoglobulin A vasculitis" (MONDO:0019167), not "hypersensitivity pneumonitis" (MONDO:0017853).
Screenshots
Not applicable - API responses provided in reproduction steps.
Upload minimal complete example
Not applicable - this is a data mapping issue in existing ontologies.
Additional context
Root Cause: EFO appears to be importing MONDO terms, but when multiple MONDO mappings exist for the same Orphanet ID, it's selecting the incorrect one (the first one on the list) instead of the disease-name matched mapping.
Evidence:
ORDO ontology correctly shows: ORDO:761 → "Immunoglobulin A vasculitis"
Cross-ontology search finds both the wrong (MONDO:0017853) and correct (MONDO:0019167) MONDO mappings
EFO-specific search only returns the incorrect mapping
Workaround: Query MONDO ontology directly and verify cross-references rather than relying on EFO's imported MONDO terms.
Hello, thanks for all the work you do with the ontologies. I am reporting the behaviour below as I found it affected some of my results.
Kind regards!
Describe the bug
EFO ontology search returns incorrect MONDO mapping for Orphanet:761. When searching for this Orphanet ID in EFO, it returns MONDO:0017853 (hypersensitivity pneumonitis) instead of the correct disease mapping MONDO:0019167 (immunoglobulin A vasculitis).
To Reproduce
Search EFO ontology for Orphanet:761: https://www.ebi.ac.uk/ols4/api/search?q=Orphanet:761&ontology=efo&exact=true
Observe returned result: MONDO:0017853 with label "hypersensitivity pneumonitis"
Compare with correct mapping by searching all ontologies: https://www.ebi.ac.uk/ols4/api/search?q=Orphanet:761&exact=true
See that correct mapping exists: MONDO:0019167 with label "immunoglobulin A vasculitis"
Expected behavior
Orphanet:761 should map to "Immunoglobulin A vasculitis" (MONDO:0019167), not "hypersensitivity pneumonitis" (MONDO:0017853).
Screenshots
Not applicable - API responses provided in reproduction steps.
Upload minimal complete example
Not applicable - this is a data mapping issue in existing ontologies.
Additional context
Root Cause: EFO appears to be importing MONDO terms, but when multiple MONDO mappings exist for the same Orphanet ID, it's selecting the incorrect one (the first one on the list) instead of the disease-name matched mapping.
Evidence:
ORDO ontology correctly shows: ORDO:761 → "Immunoglobulin A vasculitis"
Cross-ontology search finds both the wrong (MONDO:0017853) and correct (MONDO:0019167) MONDO mappings
EFO-specific search only returns the incorrect mapping
Workaround: Query MONDO ontology directly and verify cross-references rather than relying on EFO's imported MONDO terms.