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monarch-initiative / HpoCaseAnnotator

Next-generation Biocuration App for annotating cases and PhenoPackets
https://hpocaseannotator.readthedocs.io/en/latest/index.html
BSD 3-Clause "New" or "Revised" License
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Cannot add disease for newer OMIM id's #115

Open pnrobinson opened 1 year ago

pnrobinson commented 1 year ago

I would like to add 620155, Rabin-Pappas syndrome but it is not recognized by HCA and it does not let me add the disease. Either we need to pull the ids from Monarch API or we need to allow "unknown" ids.

ielis commented 1 year ago

Yeah, we're using the OMIM file in the backend that is kind of arcane.

For the short-term, I recommend to hand edit the resulting JSON file. It works with the rest of the app.

In the long-term, we have to find a way how to address this in future, either Monarch API, or HPOA, or allow free text.