monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Refresh OMIM ingest #1629

Closed Antonialock closed 4 years ago

Antonialock commented 4 years ago

Hello,

We need terms for the following disorders for UniProt mappings:

618800 618803 618804 618805 618806 618808 618810 618811 618820 618821 618822 618823 242700 618849 618850 618841 618853 301041 301043 301044 273250 301045 618828 618829 618832 618835 618838 618839 618851 618840 618845 618846 618847 618848 618852 618863 602093

Let me know if you need anything specifically from me.

Many thanks Antonia.

nicolevasilevsky commented 4 years ago

@Antonialock Yes, you asked in the right place! :)

Our OMIM import was recently refreshed, and I did a quick spot check of some of these terms and I do see them in Mondo, where are you looking?

OMIM ID Mondo ID
618800 MONDO_0032923
618803 MONDO_0032925
618804 MONDO_0032926
Antonialock commented 4 years ago

I'm searching the website for diseases https://monarchinitiative.org

so if I use the top right search box with the filter set to 'disease'

609465 finds Al-Gazali syndrome

I get "no results for 618804" or "Sandestig-Stefanova syndrome"

where can I look these up?

nicolevasilevsky commented 4 years ago

Unfortunately Monarch is not up to date with the current version of Mondo. We recommend using OLS: https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0032923

(I believe OLS is usually updated approx 2 weeks after each Mondo release)

cc @kshefchek

Antonialock commented 4 years ago

aha ok thank you Nicole!

I'll close this for now and request any straggler term if needed

paolaroncaglia commented 4 years ago

Hi @Antonialock and @nicolevasilevsky ,

Unfortunately Monarch is not up to date with the current version of Mondo. We recommend using OLS: https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0032923

(I believe OLS is usually updated approx 2 weeks after each Mondo release)

I can confirm that the latest Mondo release (June 1st) is already in OLS. Thanks and have a good day.