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sync HPO annotations with Mondo classes #410

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nicolevasilevsky opened this issue Feb 1, 2023 · 3 comments
Open

sync HPO annotations with Mondo classes #410

nicolevasilevsky opened this issue Feb 1, 2023 · 3 comments
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@nicolevasilevsky
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nicolevasilevsky commented Feb 1, 2023

We discussed this at the Mondo workshop - want to align some of the HPO annotations with Mondo axioms to make sure they are consistent.

HPOA and Mondo have some overlap, like an essential feature of grouping class of disease, like autosomal recessive.

This should be a quick task (~15 minutes). We would like to sync the major phenotypic features, such as mode of inheritance, that are captured in the HPO annotations with Mondo terms, i.e.- if there are major phenotypic features of a disease in the HPO annotations, these should be added to Mondo as subclass axioms.

For example, if mode of inheritance as a grouping class, ie 'autosomal dominant disease' we should sync of all the terms that have a mode of inheritance in HPOA with Mondo.

cc @pnrobinson @mellybelly @cmungall

@nicolevasilevsky
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this is related to monarch-initiative/mondo#5624. I don't think we'd want to do this if we want to sync HPOA and Mondo.

@monicacecilia
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Calling your attention to this issue for discussion:
@julesjacobsen @kevinschaper @iimpulse @matentzn

I agree with @nicolevasilevsky that this should happen and that if we do this, this other ticket should not be addressed.

Can we please fix this? What do you need to get this to the other side?

FYI: @pnrobinson @cmungall @mellybelly 👀👆🏽

@matentzn
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I just read the issue a few times - I never knew I was assigned to it, but I do not understand it at all. I will re-assign it to @twhetzel; I am ready to help with the implementation once the strategy is in place. Maybe someone who does understand the issue as written could add an example of what "is" and what "should be" with a concrete example from the ontology (in OBO format).

@matentzn matentzn assigned twhetzel and unassigned matentzn May 23, 2024
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