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An error: comparison of unrelated phenotypes #490

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jagcsun opened this issue Apr 7, 2023 · 4 comments
Open

An error: comparison of unrelated phenotypes #490

jagcsun opened this issue Apr 7, 2023 · 4 comments

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@jagcsun
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jagcsun commented Apr 7, 2023

@pnrobinson
In one of the exomiser comparisons of phenotypes of a patient and a known disease from OMIM, a reported match does not have a common parental term in HPO:
HP:0032239, Increased circulating band cell count - HP:0002282, Gray matter heterotopia

@julesjacobsen
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@jagcsun can you post this on the HPO tracker please

@pnrobinson
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@julesjacobsen -- this is not an HPO issue (AFAICS), I think there is a bug with owlsim or some other issue, as I have seen similar errors multiple times. Given the plans for revising owlsim, it is probably best not to try to fix the old code but to add some unit tests for the new code that check for this error (can we do this with some template -- none of the terms from one subontology should be matched with terms from another)

@julesjacobsen
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Ah, sorry I should have looked more closely. Let's leave this open here and revisit it when the new owlsim data is being incorporated.

@damiansm
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damiansm commented Apr 18, 2023 via email

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