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Mondo Disease Ontology
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[Revise subclass]transposition of the great arteries #7841

Open maglott opened 5 months ago

maglott commented 5 months ago

Mondo term (ID and Label) MONDO_0000153: transposition of great arteries has a child MONDO:0019443: dextro-looped transposition of the great arteries which has a child MONDO:0012128: transposition of the great arteries, dextro-looped

Suggested revision and reasons I see that is defined as being specific to the causation of " a mutation in the MED13L", but could that restriction be added to the label to make it clearer why "transposition of the great arteries, dextro-looped" and "dextro-looped transposition of the great arteries" are not the same concept. I see this has come up before but I still find it confusing. I am not a fan of SYMBOL-related labels, but in this case MED13L-related transposition of the great arteries, dextro-looped might be more informative. Thanks.
Sorry if I put this in the wrong category. Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here

sagehrke commented 5 months ago

Dear @maglott, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely, The Mondo Team

twhetzel commented 2 weeks ago

Hi @maglott - thank you for this term re-label suggestion. Based on the xref on MONDO:0012128 for OMIM:608808 and that this OMIM entry no longer shows a gene association we are considering obsoleting MONDO:0012128.

I do see that UMLS does have an entry, Transposition of the Great Arteries, Dextro-Looped 1, however based on this older Mondo ticket the name is an older version since it still uses the "1" subtype. @kanems do you know if there will be any updates to this or have comments on Mondo obsoleting MONDO:0012128?

twhetzel commented 2 weeks ago

@sabrinatoro the follow-up items are to add MONDO:0012128 to the list of obsoletion candidates as it being historical and no longer having evidence in OMIM.

kanems commented 2 weeks ago

If MONDO:0012128 is to be obsoleted, I would move the OMIM term 608808 up to MONDO:0019443. The OMIMPS https://omim.org/MIM:PS608808 is no longer valid so that should be removed from 0019443.

I checked CUI mappings and see there are both C3531771 Dextrotransposition of the great arteries C5671327 Dextrotransposition of Great Vessels But based on the synonyms and definitions from the source I think these mean the same thing, so I will recommend UMLS merge into the C353... record. I do not know what they will do with the C1837341 CUI record, but I can suggest they merge that to the broader concept as well.