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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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MONDO:0007269 and MONDO:0022651 [Merge] #2328

Closed kanems closed 3 years ago

kanems commented 3 years ago

Mondo term (ID and Label) MONDO:0022651 "cardiomyopathy dilated with conduction defect type 1"

Reason for deprecation Seems to be a bit of an orphan term; one cross-ref from GARD but the string is a near exact match (and concepts seem to be an exact match) for another term in MONDO. Also the "Monarch Initiative" link from GARD 1104 page (https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1) lands here: https://monarchinitiative.org/disease/MONDO:0007269

Term to be merged with MONDO:0007269 "dilated cardiomyopathy 1A" (exact synonym: "dilated cardiomyopathy with conduction defect 1"

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nicolevasilevsky commented 3 years ago

@galyea-gard Are you okay with merging MONDO:0022651 "cardiomyopathy dilated with conduction defect type 1" with MONDO:0007269 "dilated cardiomyopathy 1A"?

Also, I noticed MONDO_0022652 'cardiomyopathy dilated with conduction defect type 2' points to MONDO:0011003 'dilated cardiomyopathy 1E' from the GARD page (via the Monarch link), so perhaps these two classes should be merged as well?

Thanks!

galyea-gard commented 3 years ago

Hi! Yes, I do agree with the merging. Also, you are right that cardiomyopathy dilated with conduction defect type 2 is the same as OMIM (dilated cardiomyopathy 1E). I made the changes in GARD but I believe we won't have these subtypes when our review process is finished. Thank you! Gioconda