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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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congenital factor VII deficiency MONDO:0009211 vs factor VII deficiency MONDO:0002244 #1511

Closed maglott closed 4 years ago

maglott commented 4 years ago

Mondo term (ID and Label): congenital factor VII deficiency MONDO:0009211 vs factor VII deficiency MONDO:0002244

Xref that should be fixed (ID and label):

The CUI for the congenital subset is C1394919 not C0015503, which seems more appropriate for factor VII deficiency MONDO:0002244 Other comments: If Mondo is going to retain the distinction between F7 deficiency and the congenital subset, then these should not be synonyms for congenital factor VII deficiency factor VII deficiency F7 deficiency factor 7 deficiency

nicolevasilevsky commented 4 years ago

If Mondo is going to retain the distinction between F7 deficiency and the congenital subset, then these should not be synonyms for congenital factor VII deficiency factor VII deficiency F7 deficiency factor 7 deficiency

These are related synonyms, I think it is okay to keep these. Let me know if you disagree.

I added these as exact synonyms to MONDO:0002244 factor VII deficiency

maglott commented 4 years ago

The display from Monarch https://monarchinitiative.org/disease/MONDO:0009211 does not make any distinction between related synonyms and synonyms. This is thus confusing to anyone using the Monarch display (where MedGen is going to point our users) It is likely just me, but I have never understood the use of 'related synonym' . If it strictly means something like 'Did you know we also have a related term xxx, so consider using xxx instead?', then I think it should not be reported with the word synonym.