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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR/gene] obsolete genetic skin disease #5682

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

Preferred gene-related syndrome label

It seems to be that genodermatosis (lay synonym genetic skin disease) is a good term @ahamosh -- thoughts?

The term was made obsolete, but I think we want to keep it!

obsolete genetic skin disease

obsolete genetic skin disease

ahamosh commented 1 year ago

Why would you obsolete genodermatosis?

nicolevasilevsky commented 1 year ago

at one point we decided we didn't want to include genetic grouping classes because it was too difficult to keep the classifications current and up to date. But it sounds like we do want to have these terms (we discussed on the curation call and we all agreed to add these terms back, as needed).

@pnrobinson plans to work on this ticket. Note, we should not reinstate an obsoleted term, rather we should create a new term with a new ID: https://mondo.readthedocs.io/en/latest/editors-guide/merging-and-obsoleting/#restoring-an-obsolete-ontology-term

pnrobinson commented 1 year ago

@nicolevasilevsky @sabrinatoro can we add this term? If we could do a session together maybe you could show me how to make a PR then I could do things like this myself!

nicolevasilevsky commented 1 year ago

Hi Peter, yes, we can add it. I can go ahead and take care of it and we'd be happy to have an editing session with you to show you how to make PRs. We're meant to have a medical experts curation call on Thursday, we can plan to do it then.

ahamosh commented 1 year ago

I agree with un-obsoleting (is that a word) genodermatosis. I was supposed to be in Cape Town this week, but my dad got sick, so I am in town. I might be able to make the curation call on Thursday.

nicolevasilevsky commented 1 year ago

@pnrobinson and @ahamosh - I reinstated this term and cleaned up the subclasses a bit. Let's review this branch on our medical experts call on Thursday.

@ahamosh so sorry to hear about your dad and sorry you had to miss a trip to Cape Town, it is a beautiful place!