Closed paolaroncaglia closed 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'
@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.)
Stemming from https://github.com/EBISPOT/efo/issues/605
The branch under MONDO:0001071 intellectual disability may benefit from some revisions.
Thanks!