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add OMIM phenotypic series to POET #88

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nicolevasilevsky opened this issue Jul 5, 2022 · 1 comment

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nicolevasilevsky commented Jul 5, 2022

Mike - can we add the OMIM phenotypic series (OMIMPS) to the POET tool?

For example, OMIMPS:209900 'Bardet-Biedl syndrome'

Member

iimpulse commented Jul 12, 2022 •

edited

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Talking points

Using these terms for HPO does not make sense "TOP level mondo diseases"
Look at monarch-api to see if these terms are annotated or not
Internally to poet we should not create annotations for the subtypes, but we will need an extra query and knowledge of the parent to show these annotations
On the hpo site we will need to infer these annotations downward
Use Inferred from hierarchy when outputting annotations to file for "subtypes"

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