monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[Revise subclass] MONDO:0001071 intellectual disability #926

Closed paolaroncaglia closed 5 years ago

paolaroncaglia commented 5 years ago

Stemming from https://github.com/EBISPOT/efo/issues/605

The branch under MONDO:0001071 intellectual disability may benefit from some revisions.

Thanks!

nicolevasilevsky commented 5 years ago

@paolaroncaglia what do you think is the best parent of MONDO_0010252 'intellectual disability, X-linked, with panhypopituitarism'?

I left it under 'intellectual disability' for now.

I moved all the other classes to children of 'syndromic intellectual disability'

paolaroncaglia commented 5 years ago

@nicolevasilevsky Thanks for fixing all of the above! As for MONDO_0010252 'intellectual disability, X-linked, with panhypopituitarism', I agree that it's a tricky one. Based on the detailed clinical features in the OMIM entry (https://mirror.omim.org/entry/300123), I suggest to make MONDO_0010252 a subclass of 'syndromic disease' and 'panhypopituitarism, X-linked', but not 'intellectual disability' because that is not reported in all cases and looks more like a symptom/phenotype to me. (Note for self, we don't have 'intellectual disability, X-linked, with panhypopituitarism' in EFO.)