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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Some diseases in HPOA have no correspondences in Mondo #7833

Open matentzn opened 1 week ago

matentzn commented 1 week ago

The following 35 diseases have no corresponding ID in Mondo.

List of 35 disease IDs 1. OMIM:106400 2. OMIM:125530 3. OMIM:132500 4. OMIM:141749 5. OMIM:142000 6. OMIM:147892 7. OMIM:151430 8. OMIM:168820 9. OMIM:175505 10. OMIM:187395 11. OMIM:214200 12. OMIM:233670 13. OMIM:260450 14. OMIM:267800 15. OMIM:271225 16. OMIM:300602 17. OMIM:300706 18. OMIM:300778 19. OMIM:400003 20. OMIM:603860 21. OMIM:609886 22. OMIM:612359 23. OMIM:613793 24. OMIM:616568 25. OMIM:618057 26. OMIM:618406 27. OMIM:619545 28. Orphanet:158048 29. Orphanet:231080 30. Orphanet:505395 31. Orphanet:542323 32. Orphanet:564178 33. Orphanet:90051 34. Orphanet:90064 35. Orphanet:94059

As a preliminary analysis, I did

grep -E "^xref: ($(paste -sd '|' hpoa.txt))" mondo-edit.obo > matches.txt

Resulting in

Xrefs in Mondo ### Some are imprecise. We should probably review these ``` xref: OMIM:106400 {source="DOID:6652", source="MONDO:includedEntryInOMIM", source="Orphanet:2206", source="Orphanet:2206/e"} xref: OMIM:125530 {source="MONDO:relatedTo", source="GARD:0007170"} xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:231237", source="Orphanet:231237/ntbt"} xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: OMIM:267800 {source="Orphanet:99002/e", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:99002"} ``` ### Some are clearly obsolete: ``` xref: OMIM:271225 {source="MONDO:equivalentObsolete"} xref: OMIM:300602 {source="MONDO:equivalentObsolete"} xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="DOID:0060811", source="Orphanet:85328", source="Orphanet:85328/e"} xref: OMIM:300778 {source="DOID:0060450", source="MONDO:equivalentObsolete", source="Orphanet:98955", source="Orphanet:98955/e"} xref: OMIM:603860 {source="MONDO:equivalentObsolete"} xref: OMIM:609886 {source="MONDO:equivalentObsolete"} xref: OMIM:612359 {source="MONDO:equivalentObsolete"} xref: OMIM:616568 {source="MONDO:equivalentObsolete"} xref: OMIM:175505 {source="MONDO:equivalentObsolete"} xref: OMIM:214200 {source="MONDO:equivalentObsolete"} xref: OMIM:233670 {source="MONDO:equivalentObsolete"} xref: OMIM:260450 {source="MONDO:equivalentObsolete"} ``` ### The rest is missing.. These should probably be looked at!

To ensure that we have fully coverage of Monarch KG ingests in Mondo, I think its worth going through this list and making sure we understand why these classes are not in Mondo!