sagehrke
commented
3 days ago Dear @maglott, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!
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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