A proposed nosology of inborn errors of metabolism

[pnrobinson]

I think this article will be useful in building the hierarchy for inborn errors of metabolism
https://www.nature.com/articles/s41436-018-0022-8

[cmungall]

OK, we should start going through table S1. Perhaps we can request a more computable non-pdf version of this - would you be able to ask the authors if they have this? And if they want to follow progress?

I started looking at some of their groupings, it seems we are not 100% aligned

[nicolevasilevsky]

I converted that table to an Excel spreadsheet using Adobe Acrobat (I love the 'export to' feature!)
TableS1_InbornErrorsOfMetabolism.xlsx

As a next step, would it be helpful if I mapped the terms in their list to MONDO terms, so we know what we have and what is missing?

[cmungall]

Why don't you start by mapping the grouping classes (and note any differences, since there these will not be exact). There is no need to manually map the specific diseases as this can be done by the OMIM gene IDs.

[cmungall]

Can you also investigate the diseases that have ?s in the OMIM column. We may already have some of these.

[nicolevasilevsky]

related to #1589

[nicolevasilevsky]

I created a google spreadsheet here

[pnrobinson]

This would be a good place to get a lit of relevant diseases:

http://www.vademetab.org/

[nicolevasilevsky]

Nice, thanks, this is helpful!