QC check for cross-species analog

[katiermullen]

Consider adding a QC check for non-human animal terms that have a cross-species analog term to a human disease with a germline mutation axioms.

Generally, non-human animal diseases should not have cross-species analogs to human diseases with germline mutations:

Example: MONDO:1010291 'achondroplasia, non-human animal' should not have cross-species analog to MONDO:0007037 'achondroplasia' because 'achondroplasia' has material basis in germline mutation in some FGFR3 and 'achondroplasia, non-human animal' does not.

Question: What about cases where the non-human animal disease has a germline mutation in an orthologous gene? Do these relationships belong in the ontology or only in the KG?

Example: Should MONDO:1012791 'osteogenesis imperfecta, COL1A2-related, dog' have cross-species analog to NTR 'COL1A2-related osteogenesis imperfecta' in issue #8757?

@sabrinatoro @nicolevasilevsky

[matentzn]

We use hgnc for human, and ncbigene for animals - we do not know, at least in the ontology as it is right now - whether two genes are orthologous, so we cant build a test around that.

The QC check though is reasonable, @twhetzel will take a stab at it!

[katiermullen]

Thank you @matentzn and @twhetzel!

@twhetzel - chatgpt and I wrote some SPARQL queries to:

1. find non-human animal diseases with OMIA x-refs
2. find non-human animal disease with cross-species analogs
3. find non-human animal diseases with cross-species analogs to human diseases with germline mutations.

Can you take a look at these and see what I did right or wrong as a starting point for the QC check?

[twhetzel]

Sure @katiermullen! Can you point me to the files to review?