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[Revise subclass] Noonan syndrome is not always a cardiogenetic syndrome #7959

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pnrobinson opened this issue Jul 13, 2024 · 0 comments
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@pnrobinson
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Mondo term (ID and Label)
https://www.ebi.ac.uk/ols4/ontologies/mondo/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0018997

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@cmungall @mellybelly
There are lots of things like this in Mondo -- sometimes patients with Noonan have cardio manifestations, but not always. Therefore, it seems incorrect to call Noonan a cardiogenetic syndrome. Could we please write the rules for this sort of thing in the Mondo documentation? We have something about "relations" here https://obofoundry.org/principles/fp-007-relations.html but this does not really help to decide whether we think this is correct or incorrect -- we need to do so to be consistent!

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